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 ZNF423 23090 broad.mit.edu 37 16 49671862 49671862 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:49671862C>T ENST00000561648.1 - 4 1254 c.1201G>A c.(1201-1203)Ggg>Agg p.G401R ZNF423_ENST00000562520.1_Missense_Mutation_p.G341R|ZNF423_ENST00000262383.2_Missense_Mutation_p.G401R|ZNF423_ENST00000563137.2_Missense_Mutation_p.G341R|ZNF423_ENST00000567169.1_Missense_Mutation_p.G284R|ZNF423_ENST00000535559.1_Missense_Mutation_p.G284R|ZNF423_ENST00000562871.1_Missense_Mutation_p.G341R NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 401 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CAGCCCTGCCCGTCATCCCGC 0.637000 16 22 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248403001 248403001 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:248403001C>T ENST00000306687.1 + 1 771 c.771C>T c.(769-771)ttC>ttT p.F257F NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTGCTATGTTCATGTACATGA 0.522000 29 48 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1522302 1522302 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:1522302G>A ENST00000389470.4 - 28 4068 c.4069C>T c.(4069-4071)Ccg>Tcg p.P1357S INTS1_ENST00000404767.3_Missense_Mutation_p.P1195S Q8N201 INT1_HUMAN integrator complex subunit 1 1195 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TTCTCCTCCGGAAACCAGATG 0.637000 23 62 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81058188 81058188 + Missense_Mutation SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:81058188A>C ENST00000334512.5 + 15 2089 c.1517A>C c.(1516-1518)aAt>aCt p.N506T NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 506 Pro-rich. 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) CCTGTGGCAAATTACCCCCAC 0.592000 45 115 0 0 1 0 0 UBAP2L 9898 broad.mit.edu 37 1 154229858 154229858 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:154229858C>T ENST00000428931.1 + 20 2557 c.2390C>T c.(2389-2391)cCg>cTg p.P797L UBAP2L_ENST00000343815.6_Missense_Mutation_p.P797L|UBAP2L_ENST00000361546.2_Missense_Mutation_p.P797L|UBAP2L_ENST00000271877.7_Missense_Mutation_p.P808L NM_014847.3 NP_055662.3 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like 797 binding of sperm to zona pellucida protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2) 50 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GGGGTCCCGCCGTTGTTGCCT 0.473000 25 49 0 0 1 0 0 MPP6 51678 broad.mit.edu 37 7 24663366 24663366 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:24663366G>A ENST00000396475.2 + 3 379 c.80G>A c.(79-81)gGa>gAa p.G27E MPP6_ENST00000222644.4_Missense_Mutation_p.G27E|MPP6_ENST00000409761.1_Intron NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 27 L27 1. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TTCCTCAAGGGAATTATGGAG 0.348000 8 36 0 0 1 0 0 KRTAP5-3 387266 broad.mit.edu 37 11 1629276 1629276 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:1629276G>A ENST00000399685.1 - 1 417 c.340C>T c.(340-342)Cgt>Tgt p.R114C NM_001012708.2 NP_001012726.1 Q6L8H2 KRA53_HUMAN keratin associated protein 5-3 114 11 X 4 AA repeats of C-C-X-P. keratin filament endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 8 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) GAGCCCCCACGAAATCCACAG 0.652000 34 56 0 0 1 0 0 AHSA1 10598 broad.mit.edu 37 14 77931932 77931932 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:77931932C>T ENST00000216479.3 + 6 772 c.612C>T c.(610-612)atC>atT p.I204I AHSA1_ENST00000535854.2_Silent_p.I204I|AHSA1_ENST00000555457.1_Intron NM_012111.2 NP_036243.1 O95433 AHSA1_HUMAN AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) 204 protein folding|response to stress cytosol|endoplasmic reticulum ATPase activator activity|chaperone binding endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1) 8 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) GAGTCAAAATCCCCACTTGTA 0.458000 14 41 0 0 1 0 0 L1TD1 54596 broad.mit.edu 37 1 62675968 62675968 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:62675968G>A ENST00000498273.1 + 4 1817 c.1522G>A c.(1522-1524)Gaa>Aaa p.E508K NM_001164835.1|NM_019079.4 NP_001158307.1|NP_061952.3 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 508 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 TAGACAAAAAGAAATTCCCTT 0.453000 9 25 0 0 1 0 0 TRGC2 6967 broad.mit.edu 37 7 38289078 38289078 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:38289078G>A ENST00000436911.2 - 0 95 TTCTCAAGAAGACAAAGGTAT 0.403000 54 150 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9058301 9058301 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9058301C>T ENST00000397910.4 - 3 29348 c.29145G>A c.(29143-29145)tgG>tgA p.W9715* NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9717 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAGGGCTCGTCCATGACAGAC 0.468000 14 30 0 0 1 0 0 DENND2C 163259 broad.mit.edu 37 1 115142865 115142865 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:115142865G>A ENST00000393274.1 - 15 2690 c.2065C>T c.(2065-2067)Ctt>Ttt p.L689F DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393277.1_Intron|DENND2C_ENST00000393276.3_Missense_Mutation_p.L632F NM_001256404.1 NP_001243333.1 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 689 DENN. NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3) 37 all_epithelial(7;9.54e-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) CGCTCCAAAAGGAGAGAGGCA 0.403000 7 30 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32410715 32410715 + Silent SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:32410715G>T ENST00000332351.3 - 10 1727 c.1443C>A c.(1441-1443)ccC>ccA p.P481P WT1_ENST00000530998.1_Silent_p.P252P|WT1_ENST00000448076.3_Silent_p.P478P|WT1_ENST00000379079.2_Silent_p.P266P NM_024424.3|NM_024426.4 NP_077742.2|NP_077744.3 P19544 WT1_HUMAN Wilms tumor 1 413 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GACAGCTGAAGGGCTTTTCAC 0.483000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 15 59 1.2644e-06 1.27759e-06 1 1 0 OR1L8 138881 broad.mit.edu 37 9 125330650 125330650 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:125330650T>C ENST00000304865.2 - 1 188 c.107A>G c.(106-108)tAc>tGc p.Y36C NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 36 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 GGTGACCAGGTACACGATGAG 0.502000 23 60 0 0 1 0 0 FGFR1OP 11116 broad.mit.edu 37 6 167424307 167424307 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:167424307C>T ENST00000366847.3 + 6 676 c.445C>T c.(445-447)Ctt>Ttt p.L149F FGFR1OP_ENST00000349556.4_Missense_Mutation_p.L149F NM_007045.2 NP_008976.1 O95684 FR1OP_HUMAN FGFR1 oncogene partner 149 G2/M transition of mitotic cell cycle|microtubule anchoring|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation centrosome|cytosol|nucleus|perinuclear region of cytoplasm protein homodimerization activity|protein kinase binding|protein tyrosine kinase inhibitor activity large_intestine(2)|ovary(1)|stomach(1) 4 Breast(66;1.48e-05)|Ovarian(120;0.0607) OV - Ovarian serous cystadenocarcinoma(33;1.73e-19)|BRCA - Breast invasive adenocarcinoma(81;5.1e-06)|GBM - Glioblastoma multiforme(31;0.00231) ttaGGGTGCACTTGATCTATC 0.323000 T FGFR1 """MPD, NHL""" 3 11 0 0 1 0 0 SHISA2 387914 broad.mit.edu 37 13 26621093 26621093 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:26621093G>A ENST00000319420.3 - 2 501 c.446C>T c.(445-447)cCc>cTc p.P149L NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 149 multicellular organismal development endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 GCTCTGCTGGGGATCCTGCTT 0.627000 9 41 0 0 1 0 0 OR56A4 120793 broad.mit.edu 37 11 6023577 6023577 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:6023577G>A ENST00000330728.4 - 1 847 c.802C>T c.(802-804)Ctt>Ttt p.L268F NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATAACAATAAGGATAAGATCA 0.463000 5 22 0 0 1 0 0 OR10J1 26476 broad.mit.edu 37 1 159409623 159409623 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:159409623C>T ENST00000423932.3 + 1 112 c.75C>T c.(73-75)ttC>ttT p.F25F RP11-550P17.5_ENST00000431862.1_RNA NM_012351.2 NP_036483.2 P30954 O10J1_HUMAN olfactory receptor, family 10, subfamily J, member 1 25 sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1) 25 all_hematologic(112;0.0429) ACTTTGTTTTCCAAGGTTTCT 0.398000 23 83 0 0 1 0 0 STT3B 201595 broad.mit.edu 37 3 31674562 31674562 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:31674562C>T ENST00000295770.2 + 15 2532 c.2323C>T c.(2323-2325)Cct>Tct p.P775S NM_178862.1 NP_849193.1 Q8TCJ2 STT3B_HUMAN STT3B, subunit of the oligosaccharyltransferase complex (catalytic) 775 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 19 AGTAAAAGCACCTGATAACAG 0.378000 8 34 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26173736 26173736 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:26173736G>A ENST00000335473.7 + 8 2306 c.2056G>A c.(2056-2058)Ggc>Agc p.G686S MYO18B_ENST00000536101.1_Missense_Mutation_p.G686S|MYO18B_ENST00000407587.2_Missense_Mutation_p.G686S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 686 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CAGTGTGGATGGCAGGGTCTC 0.582000 26 55 0 0 1 0 0 AKR1D1 6718 broad.mit.edu 37 7 137798460 137798460 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:137798460G>A ENST00000242375.3 + 8 922 c.880G>A c.(880-882)Gaa>Aaa p.E294K AKR1D1_ENST00000411726.2_Missense_Mutation_p.E253K|AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Intron NM_005989.3 NP_005980.1 P51857 AK1D1_HUMAN aldo-keto reductase family 1, member D1 294 androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TCTCACTGAAGAAGAAATGAA 0.408000 12 32 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6424635 6424635 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:6424635C>T ENST00000389906.2 - 5 1054 c.e5-1 APBB1_ENST00000533407.1_Splice_Site|APBB1_ENST00000530885.1_Splice_Site|APBB1_ENST00000311051.3_Splice_Site|APBB1_ENST00000299402.6_Splice_Site NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) TGGGTTCATCCTTGGGAAGGG 0.547000 17 36 0 0 1 0 0 SLC18A1 6570 broad.mit.edu 37 8 20022610 20022610 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:20022610C>T ENST00000440926.1 - 10 1337 c.867G>A c.(865-867)aaG>aaA p.K289K SLC18A1_ENST00000437980.1_Silent_p.K289K|SLC18A1_ENST00000519026.1_Silent_p.K289K|SLC18A1_ENST00000381608.4_Silent_p.K289K|SLC18A1_ENST00000265808.7_Silent_p.K289K|SLC18A1_ENST00000276373.5_Silent_p.K289K NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 289 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) GGGGAGTCCCCTTGGCACTCT 0.468000 28 55 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48603324 48603324 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:48603324C>T ENST00000323776.5 + 14 2156 c.1994C>T c.(1993-1995)gCc>gTc p.A665V MYCBPAP_ENST00000436259.2_Missense_Mutation_p.A628V NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein 628 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) GCTGAGGAGGCCAGGCCAGGG 0.592000 27 103 0 0 1 0 0 BDKRB2 624 broad.mit.edu 37 14 96707028 96707028 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:96707028C>T ENST00000542454.2 + 3 3370 c.282C>T c.(280-282)ttC>ttT p.F94F BDKRB2_ENST00000554311.1_Silent_p.F121F|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Silent_p.F121F|BDKRB2_ENST00000539359.1_Silent_p.F94F P30411 BKRB2_HUMAN bradykinin receptor B2 121 arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway endosome|integral to plasma membrane bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding p.F121F(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1) 24 all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.226) CCAACAACTTCGACTGGCTCT 0.592000 50 126 0 0 1 0 0 OR5M8 219484 broad.mit.edu 37 11 56258728 56258728 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:56258728C>T ENST00000327216.2 - 1 143 c.119G>A c.(118-120)gGg>gAg p.G40E NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) GCCAAGGTTCCCTGCCACCGT 0.517000 28 106 0 0 1 0 0 SP140L 93349 broad.mit.edu 37 2 231254715 231254715 + Nonsense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:231254715T>A ENST00000243810.6 + 11 941 c.941T>A c.(940-942)tTa>tAa p.L314* SP140L_ENST00000396563.4_Intron|SP140L_ENST00000444636.1_Nonsense_Mutation_p.L314*|SP140L_ENST00000415673.2_Nonsense_Mutation_p.L314* Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 314 SAND. nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 AAGGGAATTTTACATAAGGAG 0.398000 23 11 0 0 1 0 0 MARCH10 162333 broad.mit.edu 37 17 60814205 60814205 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:60814205G>A ENST00000544856.2 - 7 1399 c.1021C>T c.(1021-1023)Cat>Tat p.H341Y RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.H342Y|MARCH10_ENST00000311269.5_Missense_Mutation_p.H342Y|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.H380Y Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 342 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 CTTGAAGAATGACCTCTGCAA 0.458000 127 82 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11608463 11608463 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:11608463G>A ENST00000262442.3 + 26 5581 c.5513G>A c.(5512-5514)gGa>gAa p.G1838E DNAH9_ENST00000454412.2_Missense_Mutation_p.G1838E NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1838 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GAGTACCTGGGAAACACACCT 0.527000 17 39 0 0 1 0 0 GALNTL6 442117 broad.mit.edu 37 4 173873375 173873375 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:173873375C>T ENST00000506823.1 + 10 1994 c.1337C>T c.(1336-1338)cCt>cTt p.P446L GALNTL6_ENST00000508122.1_Missense_Mutation_p.P429L NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 446 Golgi membrane|integral to membrane metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 45 AAATACTACCCTCCAGTGGAG 0.602000 10 12 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2923857 2923857 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:2923857C>T ENST00000254695.8 + 19 1809 c.1719C>T c.(1717-1719)ggC>ggT p.G573G RAP1GAP2_ENST00000540393.2_Silent_p.G554G|RAP1GAP2_ENST00000366401.4_Silent_p.G558G|RAP1GAP2_ENST00000542807.1_Silent_p.G573G NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 573 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 TGCACACGGGCTCAGAAGGCC 0.632000 4 14 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21205109 21205109 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:21205109G>A ENST00000381541.3 + 10 1476 c.1411G>A c.(1411-1413)Gaa>Aaa p.E471K SLCO1B3_ENST00000553473.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E471K|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E424K AAGTCAATGGGAACCCGTCTG 0.373000 27 50 0 0 1 0 0 OR13J1 392309 broad.mit.edu 37 9 35870329 35870329 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:35870329C>T ENST00000377981.2 - 1 132 c.70G>A c.(70-72)Gag>Aag p.E24K NM_001004487.1 NP_001004487.1 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, member 1 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) AGCAGATGCTCCAGGGCTGGG 0.557000 9 32 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1652992 1652992 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:1652992C>T ENST00000252804.4 - 17 2610 c.2560G>A c.(2560-2562)Gac>Aac p.D854N NM_012293.1 NP_036425.1 Q92626 PXDN_HUMAN peroxidasin homolog (Drosophila) 854 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CAGGGGGGGTCGTTGCTGCAC 0.672000 4 19 0 0 1 0 0 TUBBP5 643224 broad.mit.edu 37 9 141070196 141070196 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:141070196C>T ENST00000503395.1 + 0 1276 GGTGCGGCTCCTTAGCCAGGG 0.642000 4 10 0 0 1 0 0 IYD 389434 broad.mit.edu 37 6 150710649 150710649 + Missense_Mutation SNP G G C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:150710649G>C ENST00000344419.3 + 2 480 c.340G>C c.(340-342)Gaa>Caa p.E114Q IYD_ENST00000392256.2_Missense_Mutation_p.E114Q|IYD_ENST00000392255.3_Missense_Mutation_p.E114Q|IYD_ENST00000229447.5_Missense_Mutation_p.E114Q|IYD_ENST00000425615.3_Missense_Mutation_p.E59Q|IYD_ENST00000500320.3_Missense_Mutation_p.E114Q NM_203395.2 NP_981932.1 Q6PHW0 IYD1_HUMAN iodotyrosine deiodinase 114 cellular nitrogen compound metabolic process|hormone biosynthetic process integral to membrane|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 Ovarian(120;0.028) BRCA - Breast invasive adenocarcinoma(37;0.215) OV - Ovarian serous cystadenocarcinoma(155;4.16e-12) AGTCCCAATGGAAGTCATTGA 0.403000 19 54 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179526234 179526234 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:179526234C>T ENST00000367615.4 - 5 734 c.666G>A c.(664-666)atG>atA p.M222I NPHS2_ENST00000367616.4_Intron NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 222 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 GGAGACGCTTCATAGTGGTTT 0.428000 8 22 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140201924 140201924 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140201924G>A ENST00000529859.1 + 1 564 c.564G>A c.(562-564)acG>acA p.T188T PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.T188T|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.T188T NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGAAGAAACGAACTTTTTAG 0.363000 12 35 0 0 1 0 0 LRCH2 57631 broad.mit.edu 37 X 114357656 114357656 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:114357656C>T ENST00000317135.8 - 18 1979 c.1949G>A c.(1948-1950)cGa>cAa p.R650Q LRCH2_ENST00000538422.1_Missense_Mutation_p.R633Q NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 650 CH. breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 GCGAAGTTGTCGTATTTGCTC 0.413000 8 5 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161495658 161495658 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:161495658G>A ENST00000309758.4 + 1 1623 c.1210G>A c.(1210-1212)Ggg>Agg p.G404R NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 404 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CCTGTCTCTGGGGCTGGAGAC 0.597000 5 32 0 0 1 0 0 ORAI1 84876 broad.mit.edu 37 12 122079521 122079521 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:122079521C>T ENST00000330079.7 + 2 1077 c.884C>T c.(883-885)cCc>cTc p.P295L NM_032790.3 NP_116179.2 Q96D31 CRCM1_HUMAN ORAI calcium release-activated calcium modulator 1 293 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) GGGGACCACCCCCTGACGCCC 0.622000 17 46 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10400425 10400425 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:10400425C>T ENST00000397077.1 - 13 2526 c.1951G>A c.(1951-1953)Gaa>Aaa p.E651K ATP2B2_ENST00000383800.4_Missense_Mutation_p.E651K|ATP2B2_ENST00000360273.2_Missense_Mutation_p.E696K|ATP2B2_ENST00000352432.4_Missense_Mutation_p.E696K|ATP2B2_ENST00000343816.4_Missense_Mutation_p.E682K Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 696 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CAGGTGAGTTCGTTGAGGATG 0.657000 14 39 0 0 1 0 0 MFAP1 4236 broad.mit.edu 37 15 44109529 44109529 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:44109529G>A ENST00000267812.3 - 2 429 c.197C>T c.(196-198)gCc>gTc p.A66V NM_005926.2 NP_005917.2 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 66 microfibril breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) TTGTTCTTTGGCTTTCTTAAT 0.473000 30 82 0 0 1 0 0 ATP1B2 482 broad.mit.edu 37 17 7558930 7558930 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:7558930G>A ENST00000250111.4 + 6 1102 c.695G>A c.(694-696)gGc>gAc p.G232D NM_001678.3 NP_001669.3 P14415 AT1B2_HUMAN ATPase, Na+/K+ transporting, beta 2 polypeptide 232 ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1) 10 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) CCCTACTATGGCAAAAAGTTC 0.607000 13 41 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28224093 28224093 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:28224093C>T ENST00000305242.5 - 16 2433 c.2341G>A c.(2341-2343)Gga>Aga p.G781R ARMC4_ENST00000537576.1_Missense_Mutation_p.G473R|ARMC4_ENST00000545014.1_Missense_Mutation_p.G306R NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 781 binding p.G781R(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CAGCATTCTCCCAAGGCCCCA 0.458000 27 56 0 0 1 0 0 TNNI1 7135 broad.mit.edu 37 1 201383661 201383661 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:201383661G>A ENST00000361379.4 - 5 266 c.174C>T c.(172-174)tcC>tcT p.S58S TNNI1_ENST00000336092.4_Silent_p.S58S|TNNI1_ENST00000367312.1_Silent_p.S58S|TNNI1_ENST00000555948.1_Silent_p.S58S NM_003281.3 NP_003272.3 P19237 TNNI1_HUMAN troponin I type 1 (skeletal, slow) 58 muscle filament sliding|regulation of striated muscle contraction cytosol|troponin complex actin binding|tropomyosin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 8 GGGCACTGAGGGACAGGCCAC 0.687000 3 20 0 0 1 0 0 MFAP1 4236 broad.mit.edu 37 15 44109528 44109528 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:44109528G>A ENST00000267812.3 - 2 430 c.198C>T c.(196-198)gcC>gcT p.A66A NM_005926.2 NP_005917.2 P55081 MFAP1_HUMAN microfibrillar-associated protein 1 66 microfibril breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3) 15 all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.33e-07) CTTGTTCTTTGGCTTTCTTAA 0.473000 31 84 0 0 1 0 0 ZNF354C 30832 broad.mit.edu 37 5 178504079 178504079 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:178504079A>G ENST00000315475.6 + 4 468 c.162A>G c.(160-162)ccA>ccG p.P54P NM_014594.1 NP_055409.1 Q86Y25 Z354C_HUMAN zinc finger protein 354C 54 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3) 30 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) CAGGGATTCCATTTTCAATGC 0.443000 12 24 0 0 1 0 0 RASSF6 166824 broad.mit.edu 37 4 74453564 74453564 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:74453564G>A ENST00000307439.5 - 5 669 c.375C>T c.(373-375)tcC>tcT p.S125S RASSF6_ENST00000342081.3_Silent_p.S157S|RASSF6_ENST00000395777.2_Silent_p.S125S|RASSF6_ENST00000335049.5_Silent_p.S113S NM_001270391.1|NM_177532.4 NP_001257320.1|NP_803876.1 Q6ZTQ3 RASF6_HUMAN Ras association (RalGDS/AF-6) domain family member 6 157 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) GACCTTCCTGGGAATTCCTTT 0.368000 15 49 0 0 1 0 0 CAGE1 285782 broad.mit.edu 37 6 7373653 7373653 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:7373653C>T ENST00000502583.1 - 5 1963 c.1399G>A c.(1399-1401)Gct>Act p.A467T CAGE1_ENST00000379918.4_Missense_Mutation_p.A467T|CAGE1_ENST00000338150.4_Missense_Mutation_p.A467T|CAGE1_ENST00000296742.7_Missense_Mutation_p.A331T|CAGE1_ENST00000512086.1_Missense_Mutation_p.A467T NM_001170692.1 NP_001164163.1 Q8TC20 CAGE1_HUMAN cancer antigen 1 467 breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1) 19 Ovarian(93;0.0418) AAAGCAGAAGCTGTGGCCTTT 0.398000 18 57 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117706953 117706953 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:117706953C>T ENST00000368508.3 - 15 2395 c.2197G>A c.(2197-2199)Ggg>Agg p.G733R GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G728R NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 733 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATATCCGTCCCATTCAGCAGC 0.458000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 17 41 0 0 1 0 0 DTX1 1840 broad.mit.edu 37 12 113532887 113532887 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:113532887G>A ENST00000257600.3 + 7 1930 c.1427G>A c.(1426-1428)gGg>gAg p.G476E DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 476 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 GCCATCTACGGGGAGAAGACG 0.647000 15 25 0 0 1 0 0 HSPA4L 22824 broad.mit.edu 37 4 128725193 128725193 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:128725193C>T ENST00000296464.3 + 8 1347 c.936C>T c.(934-936)tcC>tcT p.S312S HSPA4L_ENST00000508776.1_Silent_p.S312S|HSPA4L_ENST00000505726.1_Silent_p.S286S|HSPA4L_ENST00000439123.2_Silent_p.S343S NM_014278.2 NP_055093.2 O95757 HS74L_HUMAN heat shock 70kDa protein 4-like 312 protein folding|response to unfolded protein cytoplasm|nucleus ATP binding|protein binding central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 TGTGTGCTTCCCTTTTGGCCA 0.358000 11 43 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10362651 10362651 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:10362651C>T ENST00000255381.2 - 15 1614 c.1504G>A c.(1504-1506)Gaa>Aaa p.E502K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 502 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TTGTACTCTTCCTGCTCCAGC 0.488000 23 67 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179552860 179552860 + Silent SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:179552860T>C ENST00000589042.1 - 127 32513 c.32289A>G c.(32287-32289)gaA>gaG p.E10763E TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.E9519E|TTN_ENST00000591111.1_Silent_p.E10446E|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10446 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) TAACCTCTGCTTCTTCCTCCT 0.393000 64 45 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189585721 189585721 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:189585721G>A ENST00000264731.3 + 7 1071 c.982G>A c.(982-984)Gaa>Aaa p.E328K TP63_ENST00000440651.2_Missense_Mutation_p.E328K|TP63_ENST00000437221.1_Missense_Mutation_p.E234K|TP63_ENST00000392463.2_Missense_Mutation_p.E234K|TP63_ENST00000449992.1_Missense_Mutation_p.E149K|TP63_ENST00000392461.3_Missense_Mutation_p.E234K|TP63_ENST00000418709.2_Missense_Mutation_p.E328K|TP63_ENST00000392460.3_Missense_Mutation_p.E328K|TP63_ENST00000354600.5_Missense_Mutation_p.E234K|TP63_ENST00000456148.1_Missense_Mutation_p.E234K|TP63_ENST00000320472.5_Missense_Mutation_p.E328K|TP63_ENST00000382063.4_Missense_Mutation_p.E243K NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 328 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 p.E328*(1) 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) TGTTACTCTGGAAACCAGAGA 0.408000 HNSCC(45;0.13) 8 17 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29451835 29451835 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:29451835C>T ENST00000389048.3 - 16 3636 c.2730G>A c.(2728-2730)atG>atA p.M910I ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 910 Gly-rich. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CCCACTTCTTCATGGCCTGGG 0.587000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 6 28 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140257122 140257122 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140257122C>T ENST00000398631.2 + 1 2065 c.2065C>T c.(2065-2067)Ccc>Tcc p.P689S PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGCTGTGGATCCCGAAGCGGC 0.652000 13 39 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62132152 62132152 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:62132152G>A ENST00000433197.2 - 14 1804 c.1709C>T c.(1708-1710)tCc>tTc p.S570F NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 570 activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 GGGACAGAAGGAAATTTTCCC 0.488000 3 23 0 0 1 0 0 CCR1 1230 broad.mit.edu 37 3 46245091 46245091 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:46245091G>A ENST00000296140.3 - 2 839 c.714C>T c.(712-714)gtC>gtT p.V238V CCR3_ENST00000357422.2_Intron NM_001295.2 NP_001286.1 P32246 CCR1_HUMAN chemokine (C-C motif) receptor 1 238 cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response integral to plasma membrane C-C chemokine receptor activity autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3) 17 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) AAATCAAACGGACAGCTTTGG 0.388000 22 19 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64427964 64427964 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:64427964G>A ENST00000265459.6 - 11 2690 c.2229C>T c.(2227-2229)atC>atT p.I743I NRXN2_ENST00000377551.1_Silent_p.I743I|NRXN2_ENST00000377559.3_Silent_p.I712I|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000409571.1_Silent_p.I736I NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 743 Laminin G-like 4. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 TAGGCAGCATGATCTTCATGT 0.602000 15 32 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73062652 73062652 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:73062652G>A ENST00000429829.1 - 0 9936 NR_001564.2 AGGGCAGAGGGAAGGGAAGAG 0.483000 22 15 0 0 1 0 0 SSX5 6758 broad.mit.edu 37 X 48049680 48049680 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:48049680C>T ENST00000311798.1 - 7 530 c.478G>A c.(478-480)Gaa>Aaa p.E160K SSX5_ENST00000376923.1_Missense_Mutation_p.E119K|SSX5_ENST00000347757.1_Missense_Mutation_p.E119K NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 119 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 TCATTTCCTTCCTCTGCTGGC 0.443000 50 40 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32021274 32021274 + Silent SNP C C T rs56407830 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:32021274C>T ENST00000375244.3 - 25 8883 c.8682G>A c.(8680-8682)gaG>gaA p.E2894E TNXB_ENST00000375247.2_Silent_p.E2892E P22105 TENX_HUMAN tenascin XB 2941 Fibronectin type-III 21. 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 TGACCCCGTCCTCGTGCCCCG 0.637000 149 633 0 0 1 0 0 D2HGDH 728294 broad.mit.edu 37 2 242683189 242683189 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:242683189C>T ENST00000321264.4 + 5 852 c.643C>T c.(643-645)Cga>Tga p.R215* D2HGDH_ENST00000537090.1_Nonsense_Mutation_p.R215*|D2HGDH_ENST00000403782.1_Nonsense_Mutation_p.R81*|D2HGDH_ENST00000342518.6_Nonsense_Mutation_p.R215* NM_152783.3 NP_689996.4 Q8N465 D2HDH_HUMAN D-2-hydroxyglutarate dehydrogenase 215 FAD-binding PCMH-type. 2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion mitochondrial matrix (R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1) 16 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;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-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;0.0833) GCGGTTTCTTCGATATGGCTC 0.627000 4 18 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156631770 156631770 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:156631770C>T ENST00000296518.7 + 6 662 c.453C>T c.(451-453)atC>atT p.I151I GUCY1A3_ENST00000511507.1_Silent_p.I151I|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Silent_p.I151I|GUCY1A3_ENST00000511108.1_Silent_p.I151I|GUCY1A3_ENST00000513574.1_Silent_p.I151I|GUCY1A3_ENST00000455639.2_Silent_p.I151I Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 151 VIKESLGEEVFKICYEEDENILGVVGGTLKDFLNSFSTLLK QSSHCQEAGKRGR -> LSKNLLVKRFLKYVTRKMKTSLGW LEAPLKIFKQLQYPSETEQPLPRSRKKGQ (in Ref. 1). blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity p.I151I(1) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) ATGAAAACATCCTTGGGGTGG 0.418000 17 33 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5436040 5436040 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:5436040C>T ENST00000380419.3 - 4 818 c.781G>A c.(781-783)Gaa>Aaa p.E261K TUBAL3_ENST00000479328.1_Missense_Mutation_p.E221K NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 261 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 GTCTGGAATTCAATTAGGTCT 0.507000 40 105 0 0 1 0 0 PIK3AP1 118788 broad.mit.edu 37 10 98416637 98416637 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:98416637G>A ENST00000339364.5 - 3 604 c.485C>T c.(484-486)tCc>tTc p.S162F PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_5'UTR NM_152309.2 NP_689522.2 Q6ZUJ8 BCAP_HUMAN phosphoinositide-3-kinase adaptor protein 1 162 cytoplasm|plasma membrane NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 52 Colorectal(252;0.0442) Epithelial(162;6.29e-08)|all cancers(201;3.18e-06) CTTCGAGTAGGAAACAACCTT 0.572000 18 33 0 0 1 0 0 DNMT3L 29947 broad.mit.edu 37 21 45668927 45668927 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:45668927T>C ENST00000270172.3 - 11 1460 c.977A>G c.(976-978)aAc>aGc p.N326S DNMT3L_ENST00000418993.1_Missense_Mutation_p.N326S NM_013369.3 NP_037501.2 Q9UJW3 DNM3L_HUMAN DNA (cytosine-5-)-methyltransferase 3-like 326 DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis cytosol enzyme activator activity|enzyme binding|metal ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3) 11 Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781) GGCTGGGATGTTGCTCCACAC 0.612000 10 9 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147465992 147465992 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:147465992G>A ENST00000359874.3 + 5 380 c.307G>A c.(307-309)Gga>Aga p.G103R SPINK5_ENST00000256084.7_Missense_Mutation_p.G103R|SPINK5_ENST00000398454.1_Missense_Mutation_p.G103R NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 103 Kazal-like 2. 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) TTTTAAAAAAGGAGAAAGAGA 0.343000 24 34 0 0 1 0 0 KHK 3795 broad.mit.edu 37 2 27320460 27320460 + Silent SNP C C T rs148222785 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:27320460C>T ENST00000260599.6 + 5 1020 c.507C>T c.(505-507)tcC>tcT p.S169S KHK_ENST00000490823.1_3'UTR|KHK_ENST00000260598.5_Silent_p.S169S NM_000221.2 NP_000212.1 P50053 KHK_HUMAN ketohexokinase (fructokinase) 169 fructose catabolic process cytosol ATP binding|ketohexokinase activity|protein binding p.S169S(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCGGGTGTCCGTGGAGGTGG 0.592000 15 62 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157959761 157959761 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:157959761G>A ENST00000389413.3 - 6 875 c.772C>T c.(772-774)Ccc>Tcc p.P258S PTPRN2_ENST00000404321.2_Missense_Mutation_p.P281S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.P241S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.P258S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P220S NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 258 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) CCCTCCCCGGGGGGAGCTGGG 0.657000 5 15 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55185828 55185828 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:55185828G>A ENST00000396834.1 + 8 1076 c.580G>A c.(580-582)Gat>Aat p.D194N IL31RA_ENST00000447346.2_Missense_Mutation_p.D213N|IL31RA_ENST00000359040.5_Missense_Mutation_p.D213N|IL31RA_ENST00000354961.4_Missense_Mutation_p.D194N|IL31RA_ENST00000396836.2_Missense_Mutation_p.D213N|IL31RA_ENST00000297015.3_Missense_Mutation_p.D71N|IL31RA_ENST00000490985.1_Missense_Mutation_p.D71N NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 181 Fibronectin type-III 2. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) GAACCGTAAGGATAAAAACCA 0.453000 15 31 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13534629 13534629 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:13534629C>T ENST00000341083.3 - 5 959 c.663G>A c.(661-663)ctG>ctA p.L221L BEND7_ENST00000396898.2_Silent_p.L286L|BEND7_ENST00000396900.2_Silent_p.L273L|BEND7_ENST00000378605.3_Silent_p.L234L NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 273 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 AAGGTGATTCCAGAACAATGC 0.473000 33 79 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21550134 21550134 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:21550134G>A ENST00000425654.2 + 11 1732 c.1252G>A c.(1252-1254)Gaa>Aaa p.E418K CNKSR2_ENST00000279451.4_Missense_Mutation_p.E418K|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000379510.3_Missense_Mutation_p.E418K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E369K NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 418 DUF1170. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 CTATGAATATGAAAAAGGAAG 0.338000 34 25 0 0 1 0 0 SHH 6469 broad.mit.edu 37 7 155604733 155604733 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:155604733C>T ENST00000297261.2 - 1 234 c.84G>A c.(82-84)agG>agA p.R28R NM_000193.2 NP_000184.1 Q15465 SHH_HUMAN sonic hedgehog 28 androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development cell surface|extracellular space|membrane raft|plasma membrane calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_neural(206;0.101) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.00882) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCCGAACCCCCTGCCCGGTC 0.612000 25 82 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76540072 76540072 + Missense_Mutation SNP G G A rs141150806 by1000genomes TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:76540072G>A ENST00000389840.5 - 17 2523 c.2399C>T c.(2398-2400)tCg>tTg p.S800L DNAH17_ENST00000585328.1_Missense_Mutation_p.S800L dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CGGGTTGGCCGACCAGTCCTG 0.493000 27 97 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57724951 57724951 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:57724951T>A ENST00000269122.3 + 3 717 c.443T>A c.(442-444)cTt>cAt p.L148H CLTC_ENST00000393043.1_Missense_Mutation_p.L148H|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 148 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CATTCTAGCCTTGCAGGGTGC 0.388000 T """ALK, TFE3""" """ALCL, renal """ 21 87 0 0 1 0 0 ZNF483 158399 broad.mit.edu 37 9 114304474 114304474 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:114304474C>T ENST00000309235.5 + 6 1417 c.1259C>T c.(1258-1260)tCa>tTa p.S420L ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 420 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 CGGAAAGATTCATGTCAAGAA 0.383000 28 60 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215568 140215568 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140215568C>T ENST00000525929.1 + 1 1600 c.1600C>T c.(1600-1602)Cag>Tag p.Q534* PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Nonsense_Mutation_p.Q534*|PCDHA6_ENST00000527624.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGCAGTTCCAGGTGAGCGC 0.682000 33 130 0 0 1 0 0 PEX3 8504 broad.mit.edu 37 6 143795941 143795941 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:143795941C>T ENST00000367591.4 + 9 829 c.766C>T c.(766-768)Cga>Tga p.R256* NM_003630.2 NP_003621.1 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 256 protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) ACTTTCTCCTCGAGACATTAC 0.333000 17 36 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143081249 143081249 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:143081249G>A ENST00000367603.2 - 9 6918 c.6176C>T c.(6175-6177)tCa>tTa p.S2059L HIVEP2_ENST00000012134.2_Missense_Mutation_p.S2059L|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S2059L NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 2059 10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK]. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CCTCTTTGGTGAATTATCTCG 0.473000 30 51 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277348 186277348 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:186277348G>A ENST00000445192.2 + 7 2542 c.2497G>A c.(2497-2499)Gag>Aag p.E833K PRG4_ENST00000367484.3_Splice_Site_p.E362_splice|PRG4_ENST00000367486.3_Missense_Mutation_p.E790K|PRG4_ENST00000367485.4_Missense_Mutation_p.E740K|PRG4_ENST00000367483.4_Missense_Mutation_p.E792K NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 833 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TACCCCCAAGGAGCCTGCACC 0.582000 55 140 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126242341 126242341 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:126242341C>T ENST00000394329.3 + 1 4788 c.4775C>T c.(4774-4776)cCt>cTt p.P1592L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1592 Cadherin 15. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GCGTTGGTGCCTTCACAGTTG 0.453000 37 88 0 0 1 0 0 PRPSAP2 5636 broad.mit.edu 37 17 18770639 18770639 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:18770639C>T ENST00000268835.2 + 4 447 c.164C>T c.(163-165)cCt>cTt p.P55L PRPSAP2_ENST00000536323.1_Intron|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.P55L|PRPSAP2_ENST00000419071.2_Intron NM_002767.3 NP_002758.1 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate synthetase-associated protein 2 55 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 TACCAGGAACCTAACAGAGGT 0.443000 18 40 0 0 1 0 0 PTPRN2 5799 broad.mit.edu 37 7 157341706 157341706 + Silent SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:157341706T>C ENST00000389413.3 - 21 2926 c.2823A>G c.(2821-2823)aaA>aaG p.K941K PTPRN2_ENST00000404321.2_Silent_p.K993K|PTPRN2_ENST00000389416.4_Silent_p.K953K|PTPRN2_ENST00000389418.4_Silent_p.K970K|PTPRN2_ENST00000409483.1_Silent_p.K932K NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 970 Tyrosine-protein phosphatase. 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) TATCAATCTCTTTAGCACCTG 0.547000 20 62 0 0 1 0 0 TLX1 3195 broad.mit.edu 37 10 102896658 102896658 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:102896658G>A ENST00000370196.6 + 3 3023 c.981G>A c.(979-981)tcG>tcA p.S327S RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_3'UTR P31314 TLX1_HUMAN T-cell leukemia homeobox 1 327 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|upper_aerodigestive_tract(1) 2 Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CGGTGGCGTCGGCCTGCGAGT 0.647000 T """TRB@, TRD@""" T-ALL 12 21 0 0 1 0 0 DLL1 28514 broad.mit.edu 37 6 170593060 170593060 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:170593060G>A ENST00000366756.3 - 9 1640 c.1307C>T c.(1306-1308)tCg>tTg p.S436L NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 436 EGF-like 6. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) GTGCCTCCCCGAGAAGCCGGC 0.642000 4 6 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23319537 23319537 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:23319537A>G ENST00000298032.5 + 17 2142 c.2058A>G c.(2056-2058)ggA>ggG p.G686G ARMC3_ENST00000376528.4_Silent_p.G423G|ARMC3_ENST00000409983.3_Silent_p.G679G NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 686 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 aaagcaaaggaaaaaaagaag 0.388000 7 8 0 0 1 0 0 LRRC37A3 374819 broad.mit.edu 37 17 62856581 62856581 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:62856581C>T ENST00000584306.1 - 11 4213 c.3683G>A c.(3682-3684)gGa>gAa p.G1228E LRRC37A3_ENST00000400877.3_Missense_Mutation_p.G266E|LRRC37A3_ENST00000334962.5_Missense_Mutation_p.G205E|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.G346E|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.G1228E NM_199340.2 NP_955372.2 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1228 integral to membrane NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 GACGGCGTTTCCCGCTAACTT 0.572000 44 95 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962043 73962043 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:73962043C>T ENST00000373468.1 - 3 3000 c.2349G>A c.(2347-2349)aaG>aaA p.K783K KIAA2022_ENST00000055682.5_Silent_p.K783K Q5QGS0 K2022_HUMAN KIAA2022 783 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AAGTGGAACTCTTAGCAGCCT 0.408000 33 26 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71862934 71862934 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:71862934G>A ENST00000377245.4 + 19 2882 c.2674G>A c.(2674-2676)Ggg>Agg p.G892R TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000453658.2_Missense_Mutation_p.G869R|TJP2_ENST00000265384.7_Missense_Mutation_p.G892R|TJP2_ENST00000535702.1_Missense_Mutation_p.G896R|TJP2_ENST00000539225.1_Missense_Mutation_p.G923R|TJP2_ENST00000348208.4_Missense_Mutation_p.G892R NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 892 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 CTAGATGGAAGGGATGGATGA 0.547000 20 62 0 0 1 0 0 SLC35F3 148641 broad.mit.edu 37 1 234041378 234041378 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:234041378G>A ENST00000366618.3 + 2 302 c.157G>A c.(157-159)Gat>Aat p.D53N NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 0 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GATTAAGGAGGATCTGAAATG 0.627000 12 49 0 0 1 0 0 YDJC 150223 broad.mit.edu 37 22 21982815 21982815 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:21982815C>T ENST00000292778.6 - 5 913 c.864G>A c.(862-864)caG>caA p.Q288Q YDJC_ENST00000398873.3_3'UTR NM_001017964.1 NP_001017964.1 A8MPS7 YDJC_HUMAN YdjC homolog (bacterial) 288 carbohydrate metabolic process hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds Colorectal(54;0.105) GCACGCCATCCTGGGCAAGCT 0.687000 9 36 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692623 20692623 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:20692623G>A ENST00000315519.2 + 1 833 c.755G>A c.(754-756)cGa>cAa p.R252Q NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) GGTGCTGGTCGAACTAAAGCT 0.483000 7 25 0 0 1 0 0 DNPEP 23549 broad.mit.edu 37 2 220247898 220247898 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:220247898G>A ENST00000273075.4 - 10 1111 c.891C>T c.(889-891)gcC>gcT p.A297A DNPEP_ENST00000523282.1_Silent_p.A305A|DNPEP_ENST00000373972.1_Silent_p.A222A NM_012100.2 NP_036232.2 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 287 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) GAGGCTCTGTGGCCAGGGAGC 0.572000 32 24 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30706118 30706118 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:30706118G>A ENST00000256246.2 - 1 490 c.416C>T c.(415-417)cCt>cTt p.P139L NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 139 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) TTTATTGGGAGGTATACAGTC 0.408000 21 56 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162325116 162325116 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:162325116G>A ENST00000361897.5 + 7 1137 c.735G>A c.(733-735)aaG>aaA p.K245K NOS1AP_ENST00000530878.1_Silent_p.K240K NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 245 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) CTGTAGGGAAGGAAGGAGGCT 0.557000 19 69 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40661034 40661034 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:40661034C>T ENST00000267889.3 + 8 2808 c.2721C>T c.(2719-2721)ttC>ttT p.F907F NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 907 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) TCCTACAATTCCAGACCAACT 0.612000 7 40 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7229506 7229506 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:7229506C>T ENST00000379938.2 + 10 1711 c.1174C>T c.(1174-1176)Cag>Tag p.Q392* RREB1_ENST00000334984.6_Nonsense_Mutation_p.Q392*|RREB1_ENST00000379933.3_Nonsense_Mutation_p.Q392*|RREB1_ENST00000349384.6_Nonsense_Mutation_p.Q392* NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 392 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCAGGCAATTCAGCTCCAGAC 0.622000 19 27 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228548271 228548271 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:228548271C>T ENST00000284548.11 + 81 19752 c.19678C>T c.(19678-19680)Cgg>Tgg p.R6560W OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3679W Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7581 Protein kinase 1. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGCCCCGGCTCGGCCTGTGGG 0.672000 6 15 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542042 133542042 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:133542042G>A ENST00000409261.1 - 14 2715 c.2342C>T c.(2341-2343)tCa>tTa p.S781L NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.S781L NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 781 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 ACTCTGGCATGATATATTGTG 0.453000 58 57 0 0 1 0 0 TDRD10 126668 broad.mit.edu 37 1 154519928 154519928 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:154519928G>A ENST00000368482.4 + 12 1834 c.996G>A c.(994-996)ggG>ggA p.G332G TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Silent_p.G332G NM_001098475.1|NM_182499.3 NP_001091945.1|NP_872305.3 Q5VZ19 TDR10_HUMAN tudor domain containing 10 332 nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TCCTCAAAGGGAAAATCACTG 0.527000 28 58 0 0 1 0 0 GALNT11 63917 broad.mit.edu 37 7 151791433 151791433 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:151791433C>T ENST00000434507.1 + 4 558 c.121C>T c.(121-123)Ccc>Tcc p.P41S GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000430044.2_Missense_Mutation_p.P41S|GALNT11_ENST00000415421.1_Missense_Mutation_p.P41S|GALNT11_ENST00000320311.2_Missense_Mutation_p.P41S|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000422997.2_Missense_Mutation_p.P41S Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 41 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) TAAGAATGTGCCCGTCAAGGG 0.473000 4 131 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30950108 30950108 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:30950108C>T ENST00000383096.3 - 6 436 c.254G>A c.(253-255)aGc>aAc p.S85N CCDC178_ENST00000579916.1_Missense_Mutation_p.S85N|CCDC178_ENST00000406524.2_Missense_Mutation_p.S85N|CCDC178_ENST00000579947.1_Missense_Mutation_p.S85N|CCDC178_ENST00000583930.1_Missense_Mutation_p.S85N|CCDC178_ENST00000300227.8_Missense_Mutation_p.S85N|CCDC178_ENST00000403303.1_Missense_Mutation_p.S85N|CCDC178_ENST00000402325.1_Missense_Mutation_p.S85N coiled-coil domain containing 178 TACGGCACAGCTGTGACGTCG 0.373000 7 31 0 0 1 0 0 PARP16 54956 broad.mit.edu 37 15 65558956 65558956 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:65558956G>A ENST00000261888.6 - 3 908 c.463C>T c.(463-465)Cgc>Tgc p.R155C PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron NM_017851.4 NP_060321.3 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 155 PARP catalytic. integral to membrane NAD+ ADP-ribosyltransferase activity kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 TTTTCTAGGCGGCTACCATGA 0.488000 19 50 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9084542 9084542 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9084542C>T ENST00000397910.4 - 1 7476 c.7273G>A c.(7273-7275)Gcc>Acc p.A2425T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2425 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A2425T(2) 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 GGAGAGGTGGCTGTATTTGTC 0.502000 11 25 0 0 1 0 0 GPR84 53831 broad.mit.edu 37 12 54757240 54757240 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:54757240G>A ENST00000551809.1 - 1 1031 c.396C>T c.(394-396)ttC>ttT p.F132F RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Silent_p.F132F Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 132 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 CCTTGGCACTGAAAACTTGGG 0.547000 8 29 0 0 1 0 0 TSPAN16 26526 broad.mit.edu 37 19 11409563 11409563 + Missense_Mutation SNP G G C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:11409563G>C ENST00000316737.1 + 3 433 c.283G>C c.(283-285)Gtt>Ctt p.V95L TSPAN16_ENST00000592955.1_Intron|TSPAN16_ENST00000590327.1_Missense_Mutation_p.V95L NM_012466.2 NP_036598.1 Q9UKR8 TSN16_HUMAN tetraspanin 16 95 integral to membrane breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 12 CCTGTCAATGGTTATTGTCCT 0.512000 19 71 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123845850 123845850 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:123845850G>A ENST00000369005.1 + 4 4175 c.3835G>A c.(3835-3837)Gaa>Aaa p.E1279K TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E1279K|TACC2_ENST00000453444.2_Missense_Mutation_p.E1279K|TACC2_ENST00000515273.1_Missense_Mutation_p.E1279K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.E1279K NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1279 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) ACTTGCCTTGGAAAATGCTGC 0.602000 13 35 0 0 1 0 0 CEP85 64793 broad.mit.edu 37 1 26570684 26570684 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:26570684C>T ENST00000252992.4 + 3 214 c.83C>T c.(82-84)tCc>tTc p.S28F CEP85_ENST00000451429.2_Intron NM_022778.2 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85kDa 28 centrosome|nucleolus|spindle pole breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2) 25 AAGGGCAGTTCCCTGGGGACT 0.507000 5 12 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155222393 155222393 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:155222393C>T ENST00000460012.1 - 13 1922 c.1565G>A c.(1564-1566)gGa>gAa p.G522E PLCH1_ENST00000447496.2_Missense_Mutation_p.G540E|PLCH1_ENST00000414191.1_Missense_Mutation_p.G522E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G540E|PLCH1_ENST00000494598.1_Missense_Mutation_p.G540E|PLCH1_ENST00000334686.6_Missense_Mutation_p.G522E Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 540 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TGATTTCTTTCCACTTTCCTT 0.318000 17 57 0 0 1 0 0 GSTA2 2939 broad.mit.edu 37 6 52615459 52615459 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:52615459C>T ENST00000493422.1 - 7 740 c.585G>A c.(583-585)aaG>aaA p.K195K NM_000846.4 NP_000837.3 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 195 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) GTAGAAACTTCTTCACTGTGG 0.453000 25 86 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657228 143657228 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:143657228C>T ENST00000392899.1 + 1 202 c.165C>T c.(163-165)ctC>ctT p.L55L NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 55 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) ACAGCCGACTCCACACTCCCA 0.512000 62 150 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17088300 17088300 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:17088300G>A ENST00000443236.1 - 15 1808 c.1777C>T c.(1777-1779)Cat>Tat p.H593Y CPAMD8_ENST00000388925.4_Intron NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 546 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 ACGGCCAGATGAAGAGAGGTC 0.587000 9 38 0 0 1 0 0 IGHG1 3500 broad.mit.edu 37 14 106208489 106208489 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:106208489G>A ENST00000390548.2 - 0 410 CAGGGGTCCGGGAGATCATGA 0.592000 34 78 0 0 1 0 0 CNDP1 84735 broad.mit.edu 37 18 72228148 72228148 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:72228148G>A ENST00000582365.1 + 3 298 c.232G>A c.(232-234)Gat>Aat p.D78N CNDP1_ENST00000585136.1_Intron|CNDP1_ENST00000358821.3_Missense_Mutation_p.D121N Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 121 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) ACTGGGGAGCGATCCCACGAA 0.572000 41 88 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34258094 34258094 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:34258094C>T ENST00000373381.4 - 11 1656 c.1480G>A c.(1480-1482)Gag>Aag p.E494K CSMD2_ENST00000338325.1_Missense_Mutation_p.E102K NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 454 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) TAGCCCCTCTCCAAATCAAAC 0.552000 24 38 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21213342 21213342 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:21213342G>A ENST00000574002.1 - 13 1772 c.1290C>T c.(1288-1290)ttC>ttT p.F430F AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.F430F|ZP2_ENST00000574091.1_Silent_p.F430F Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 430 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) TATCATCTTCGAACTTAAATG 0.403000 24 47 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75673967 75673967 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:75673967G>A ENST00000394947.3 - 18 3589 c.3275C>T c.(3274-3276)cCt>cTt p.P1092L SIN3A_ENST00000360439.4_Missense_Mutation_p.P1092L|SIN3A_ENST00000394949.4_Missense_Mutation_p.P1092L NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 1092 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 TGCTTCCACAGGGTCATCCGA 0.512000 54 112 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194062658 194062658 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:194062658G>A ENST00000323830.3 - 2 863 c.774C>T c.(772-774)ctC>ctT p.L258L CPN2_ENST00000429275.1_Silent_p.L258L NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 258 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) CAAAGATGGAGAGCGGCAGGT 0.607000 15 50 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131521388 131521388 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:131521388G>A ENST00000423981.1 + 2 1853 c.1743G>A c.(1741-1743)gaG>gaA p.E581E AMER3_ENST00000321420.4_Silent_p.E581E NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 TCGCCGGAGAGAGCAAGGCCC 0.652000 11 43 0 0 1 0 0 FAM212B 55924 broad.mit.edu 37 1 112270049 112270049 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:112270049C>T ENST00000357260.5 - 2 616 c.435G>A c.(433-435)ttG>ttA p.L145L FAM212B_ENST00000444059.2_Silent_p.L130L|FAM212B_ENST00000534365.1_Intron NM_019099.4 NP_061972.1 Q9NTI7 CA183_HUMAN family with sequence similarity 212, member B 145 cervix(1)|endometrium(1) 2 CCCGGGACATCAACGTGGAGG 0.587000 17 35 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 648636 648636 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:648636C>T ENST00000255622.6 + 6 994 c.951C>T c.(949-951)atC>atT p.I317I RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000429163.2_Silent_p.I38I|PDE6B_ENST00000496514.1_Silent_p.I317I|RP11-1191J2.2_ENST00000468356.1_RNA NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 317 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 ACAAAGTGATCGACTACGTCC 0.577000 15 67 0 0 1 0 0 OR52E4 390081 broad.mit.edu 37 11 5905976 5905976 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:5905976G>A ENST00000316987.2 + 1 476 c.454G>A c.(454-456)Gga>Aga p.G152R NM_001005165.1 NP_001005165.1 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, member 4 152 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGTGGTTGTTGGAAGAAATTT 0.463000 27 69 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129906504 129906504 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:129906504C>T ENST00000368654.3 - 13 3975 c.3600G>A c.(3598-3600)ctG>ctA p.L1200L MKI67_ENST00000368653.3_Silent_p.L840L NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1200 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AAGTTCCTGCCAGGTCCAGTT 0.502000 53 108 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151110527 151110527 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:151110527A>G ENST00000341697.3 - 9 2293 c.602T>C c.(601-603)gTt>gCt p.V201A Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 201 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 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) GCTTCTGTAAACTACAGCATC 0.622000 25 39 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32740546 32740546 + Silent SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:32740546T>C ENST00000421745.2 + 55 11192 c.11058T>C c.(11056-11058)atT>atC p.I3686I NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3686 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding p.A3656fs*3(1) NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TTGCTCCTATTCTTAGGTTTT 0.418000 10 22 0 0 1 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47189579 47189579 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:47189579G>A ENST00000524782.1 - 12 1314 c.1086C>T c.(1084-1086)ccC>ccT p.P362P ARFGAP2_ENST00000319543.6_Silent_p.P93P|ARFGAP2_ENST00000426335.2_Silent_p.P226P|ARFGAP2_ENST00000419701.2_Silent_p.P255P|ARFGAP2_ENST00000395449.3_5'UTR NM_001242832.1|NM_032389.4 NP_001229761.1|NP_115765.2 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating protein 2 362 Required for interaction with coatomer. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 CTAAGGAAAAGGGATTGTCCT 0.517000 15 33 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6128127 6128127 + Missense_Mutation SNP G G A rs149424724 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:6128127G>A ENST00000261405.5 - 28 4711 c.4457C>T c.(4456-4458)tCg>tTg p.S1486L NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1486 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding p.S1486L(1) NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCCCAGGGTCGAAACCCCCAA 0.592000 5 27 0 0 1 0 0 CAPN7 23473 broad.mit.edu 37 3 15265016 15265016 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:15265016C>T ENST00000253693.2 + 6 926 c.673C>T c.(673-675)Cct>Tct p.P225S NM_014296.2 NP_055111.1 Q9Y6W3 CAN7_HUMAN calpain 7 225 proteolysis nucleus calcium-dependent cysteine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2) 22 AGAATATGTTCCTTTCATGAA 0.318000 16 57 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10399321 10399321 + Silent SNP G G A rs145122906 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:10399321G>A ENST00000226207.5 - 35 5209 c.5115C>T c.(5113-5115)atC>atT p.I1705I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1705 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.I1705I(1) 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 CCTGTTCTGCGATTTTCCTGC 0.532000 13 35 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5751693 5751693 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:5751693C>T ENST00000381624.3 + 12 1084 c.1023C>T c.(1021-1023)gcC>gcT p.A341A CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 341 integral to membrane AAGACGTGGCCCTGATGTTCA 0.433000 13 23 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20033087 20033087 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:20033087G>A ENST00000377340.2 - 2 414 c.383C>T c.(382-384)tCc>tTc p.S128F CRNKL1_ENST00000536226.1_5'UTR|CRNKL1_ENST00000377327.4_Missense_Mutation_p.S116F NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 128 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 AAACAAACAGGATCTCGGAAC 0.587000 29 57 0 0 1 0 0 NRN1 51299 broad.mit.edu 37 6 6002686 6002686 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:6002686C>T ENST00000244766.2 - 2 317 c.100G>A c.(100-102)Gtc>Atc p.V34I NRN1_ENST00000495850.1_5'UTR NM_016588.2 NP_057672.1 Q9NPD7 NRN1_HUMAN neuritin 1 34 anchored to membrane|plasma membrane endometrium(2)|large_intestine(2)|lung(4) 8 Ovarian(93;0.0816) all_hematologic(90;0.151) OV - Ovarian serous cystadenocarcinoma(45;0.00415) CCCTTGAAGACCGCATCGCAC 0.647000 16 55 0 0 1 0 0 MICA 100507436 broad.mit.edu 37 6 31378334 31378334 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:31378334C>T ENST00000449934.2 + 2 139 c.85C>T c.(85-87)Cgt>Tgt p.R29C HCP5_ENST00000414046.2_RNA NM_001177519.1 NP_001170990.1 Q29983 MICA_HUMAN MHC class I polypeptide-related sequence A 29 R -> P (in allele MICA*010, allele MICA*025 and allele MICA*054; abolishes cell surface expression, probably by interfering with protein folding; dbSNP:rs9380254). antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding breast(1)|endometrium(3)|kidney(1) 5 Ovarian(999;0.0253) CCACAGTCTTCGTTATAACCT 0.507000 11 37 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48428932 48428932 + Missense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:48428932G>T ENST00000224605.2 - 2 1219 c.954C>A c.(952-954)ttC>ttA p.F318L NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 318 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GGTGCTTGTGGAAGTGCTGTG 0.721000 6 20 0.0215528 0.0216309 1 1 0 MCTP1 79772 broad.mit.edu 37 5 94224666 94224666 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:94224666C>T ENST00000515393.1 - 12 1850 c.1851G>A c.(1849-1851)agG>agA p.R617R MCTP1_ENST00000505078.1_Silent_p.R133R|MCTP1_ENST00000429576.2_Silent_p.R350R|MCTP1_ENST00000312216.8_Silent_p.R396R|MCTP1_ENST00000505208.1_Silent_p.R396R NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 617 C2 3. calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding p.R617S(2) breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) TGTGAAATATCCTCAATGGGC 0.423000 23 50 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159654399 159654399 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:159654399T>C ENST00000297267.9 + 11 3055 c.2855T>C c.(2854-2856)gTt>gCt p.V952A FNDC1_ENST00000340366.6_Missense_Mutation_p.V889A NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 952 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GCTCAGGATGTTCAACAGAGC 0.622000 5 15 0 0 1 0 0 ENAM 10117 broad.mit.edu 37 4 71498390 71498390 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:71498390A>T ENST00000396073.3 + 5 472 c.191A>T c.(190-192)aAc>aTc p.N64I NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 64 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) AATCAATTCAACTTTATGAAC 0.303000 86 214 0 0 1 0 0 CCDC114 93233 broad.mit.edu 37 19 48806926 48806926 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:48806926C>T ENST00000315396.7 - 8 1540 c.858G>A c.(856-858)ttG>ttA p.L286L NM_144577.3 NP_653178.3 Q96M63 CC114_HUMAN coiled-coil domain containing 114 286 cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1) 24 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) ACTTCTGCACCAACAGGTCAG 0.642000 13 51 0 0 1 0 0 B4GALNT3 283358 broad.mit.edu 37 12 670564 670564 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:670564C>T ENST00000266383.5 + 20 2957 c.2944C>T c.(2944-2946)Cat>Tat p.H982Y NM_173593.3 NP_775864.3 Q6L9W6 B4GN3_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 3 982 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TTTCTTCCATCATTTCCATTC 0.597000 13 25 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142561410 142561410 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142561410G>A ENST00000392957.2 + 6 909 c.122G>A c.(121-123)gGa>gAa p.G41E EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G41E NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 41 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GACACCACCGGAGAGACATCT 0.597000 10 65 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5685080 5685080 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:5685080G>A ENST00000546188.1 - 24 2615 c.2544C>T c.(2542-2544)ctC>ctT p.L848L ANO2_ENST00000356134.5_Silent_p.L848L|ANO2_ENST00000327087.8_Silent_p.L847L Q9NQ90 ANO2_HUMAN anoctamin 2 852 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 TGAAAAAGGAGAGGGTGTGGT 0.512000 7 22 0 0 1 0 0 HTR1F 3355 broad.mit.edu 37 3 88040382 88040382 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:88040382G>A ENST00000319595.4 + 1 537 c.483G>A c.(481-483)tgG>tgA p.W161* NM_000866.3 NP_000857.1 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled 161 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 25 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CTCTATTCTGGAGGCACCAAG 0.418000 16 21 0 0 1 0 0 TEX33 339669 broad.mit.edu 37 22 37397962 37397962 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:37397962C>T ENST00000405091.2 - 4 656 c.405G>A c.(403-405)acG>acA p.T135T TEX33_ENST00000402860.3_Silent_p.T50T|TEX33_ENST00000381821.1_Silent_p.T135T O43247 EAN57_HUMAN testis expressed 33 135 CCTTCTGGTTCGTGGGCGTGC 0.622000 5 19 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 68981315 68981315 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:68981315C>T ENST00000288368.4 + 12 1664 c.1387C>T c.(1387-1389)Cgc>Tgc p.R463C PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 463 DEP 1. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity p.R463C(2) 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 ATATAGATTTCGCTATGATGA 0.348000 8 17 0 0 1 0 0 CRYGC 1420 broad.mit.edu 37 2 208994303 208994303 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:208994303C>T ENST00000282141.3 - 2 151 c.114G>A c.(112-114)gtG>gtA p.V38V NM_020989.3 NP_066269.1 P07315 CRGC_HUMAN crystallin, gamma C 38 Beta/gamma crystallin 'Greek key' 1. visual perception cytoplasm|nucleus protein binding|structural constituent of eye lens NS(1)|endometrium(1)|large_intestine(2)|lung(5) 9 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) AGCCGCTCTCCACCCGGATGG 0.602000 83 52 0 0 1 0 0 ZMYM4 9202 broad.mit.edu 37 1 35853076 35853076 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:35853076G>A ENST00000314607.6 + 13 2214 c.2134G>A c.(2134-2136)Ggc>Agc p.G712S ZMYM4_ENST00000373297.2_Missense_Mutation_p.G623S NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger, MYM-type 4 712 multicellular organismal development DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2) 54 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) TCAGTTCTGTGGCAAGAATTG 0.303000 10 33 0 0 1 0 0 MUC1 4582 broad.mit.edu 37 1 155159802 155159802 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:155159802G>A ENST00000368395.1 - 7 1323 c.1252C>T c.(1252-1254)Cca>Tca p.P418S MUC1_ENST00000368392.3_Missense_Mutation_p.P207S|MUC1_ENST00000368398.3_Missense_Mutation_p.P173S|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000342482.4_Missense_Mutation_p.P109S|MUC1_ENST00000438413.1_Missense_Mutation_p.P172S|MUC1_ENST00000343256.5_Missense_Mutation_p.P146S|MUC1_ENST00000457295.2_Missense_Mutation_p.P207S|MUC1_ENST00000368389.2_Missense_Mutation_p.P111S|MUC1_ENST00000338684.5_Missense_Mutation_p.P167S|MUC1_ENST00000368390.3_Missense_Mutation_p.P198S|MUC1_ENST00000368393.3_Missense_Mutation_p.S175F|MUC1_ENST00000368396.4_Missense_Mutation_p.P102S|MUC1_ENST00000337604.5_Missense_Mutation_p.P216S NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 1198 42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCCCGGGCTGGAAAGATGTCC 0.597000 T IGH@ B-NHL 24 73 0 0 1 0 0 HLA-DRB5 3127 broad.mit.edu 37 6 32487202 32487202 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:32487202A>G ENST00000374975.3 - 3 659 c.597T>C c.(595-597)gtT>gtC p.V199V NM_002125.3 NP_002116.2 Q30154 DRB5_HUMAN major histocompatibility complex, class II, DR beta 5 199 Beta-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2) 10 GGCAGGTGTAAACCTCTCCAC 0.527000 85 100 0 0 1 0 0 STX1A 6804 broad.mit.edu 37 7 73117299 73117299 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:73117299G>A ENST00000222812.3 - 8 580 c.554C>T c.(553-555)tCc>tTc p.S185F STX1A_ENST00000395156.3_Missense_Mutation_p.S185F|STX1A_ENST00000395155.3_Missense_Mutation_p.S185F|STX1A_ENST00000395154.3_Missense_Mutation_p.S185F|WBSCR22_ENST00000423166.2_Intron NM_004603.3 NP_004594.1 Q16623 STX1A_HUMAN syntaxin 1A (brain) 185 energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome SNAP receptor activity large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 5 Lung NSC(55;0.0908)|all_lung(88;0.198) CGAGATGCTGGAGTCCATGAT 0.622000 11 19 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23928945 23928945 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:23928945G>A ENST00000382298.3 - 8 2394 c.1806C>T c.(1804-1806)gcC>gcT p.A602A SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Silent_p.A602A|SACS_ENST00000476776.1_5'UTR NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 602 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTGGTACCTTGGCAATCTGCT 0.537000 23 46 0 0 1 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993649 45993649 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:45993649C>T ENST00000400374.3 + 1 44 c.14C>T c.(13-15)tCc>tTc p.S5F TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 5 keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 TCCGTCTGCTCCAGCGACCTG 0.642000 25 43 0 0 1 0 0 SLC25A40 55972 broad.mit.edu 37 7 87483547 87483547 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:87483547T>C ENST00000341119.5 - 5 582 c.236A>G c.(235-237)aAg>aGg p.K79R NM_018843.3 NP_061331.2 Q8TBP6 S2540_HUMAN solute carrier family 25, member 40 79 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 17 Esophageal squamous(14;0.00202) TCCTGGCTTCTTATACCATAG 0.313000 15 49 0 0 1 0 0 BSPRY 54836 broad.mit.edu 37 9 116122940 116122940 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:116122940G>A ENST00000374183.4 + 3 493 c.454G>A c.(454-456)Gag>Aag p.E152K BSPRY_ENST00000462085.1_3'UTR NM_017688.2 NP_060158.2 Q5W0U4 BSPRY_HUMAN B-box and SPRY domain containing 152 calcium ion transport cytoplasm|membrane zinc ion binding breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 GCACTGGGCCGAGGCGCTGCA 0.612000 4 11 0 0 1 0 0 ITIH1 3697 broad.mit.edu 37 3 52817134 52817134 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:52817134G>A ENST00000273283.2 + 9 1116 c.1092G>A c.(1090-1092)ctG>ctA p.L364L ITIH1_ENST00000542827.1_Silent_p.L364L|ITIH1_ENST00000537050.1_Silent_p.L76L|ITIH1_ENST00000540715.1_Silent_p.L222L NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 364 VWFA. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GCTTTTCCCTGGATGAGGGTA 0.542000 6 13 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40438507 40438507 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:40438507C>T ENST00000381793.2 - 4 1677 c.1281G>A c.(1279-1281)ccG>ccA p.P427P RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.P389P|RBM47_ENST00000319592.4_Intron|RBM47_ENST00000381795.6_Intron|RBM47_ENST00000295971.7_Silent_p.P427P A0AV96 RBM47_HUMAN RNA binding motif protein 47 427 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 TTTCCAAATTCGGCACCAGTT 0.478000 35 93 0 0 1 0 0 F7 2155 broad.mit.edu 37 13 113773127 113773127 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:113773127G>A ENST00000375581.3 + 9 1241 c.1206G>A c.(1204-1206)ggG>ggA p.G402G F7_ENST00000346342.3_Silent_p.G380G|F7_ENST00000541084.1_Silent_p.G333G NM_000131.4 NP_000122.1 P08709 FA7_HUMAN coagulation factor VII (serum prothrombin conversion accelerator) 402 Peptidase S1. G -> E (in FA7D).|G -> R (in FA7D). anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|Golgi lumen|plasma membrane calcium ion binding|glycoprotein binding|serine-type endopeptidase activity large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218) Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170) CCTGCAAGGGGGACAGTGGAG 0.637000 10 18 0 0 1 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142422 5142422 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:5142422C>T ENST00000498233.1 - 0 976 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GATAACAGATCGCTACACAGC 0.463000 9 24 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728643 20728643 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:20728643C>T ENST00000427401.4 - 4 460 c.366G>A c.(364-366)gaG>gaA p.E122E NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 122 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GCACCTTACACTCATCTACAC 0.318000 6 24 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141618826 141618826 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:141618826G>A ENST00000548136.1 + 1 210 c.151G>A c.(151-153)Gat>Aat p.D51N MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) TGTCTGTGTGGATAAACGTCT 0.448000 49 96 0 0 1 0 0 KCNH6 81033 broad.mit.edu 37 17 61601685 61601685 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:61601685G>A ENST00000583023.1 + 2 273 c.262G>A c.(262-264)Ggg>Agg p.G88R KCNH6_ENST00000314672.5_Missense_Mutation_p.G88R|KCNH6_ENST00000581784.1_Missense_Mutation_p.G88R|KCNH6_ENST00000580652.1_Missense_Mutation_p.G88R|KCNH6_ENST00000456941.2_Missense_Mutation_p.G88R NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 88 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) GGCCCTGCTGGGGGCTGAGGA 0.632000 18 100 0 0 1 0 0 KRT16P6 353194 broad.mit.edu 37 17 16725556 16725556 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:16725556C>T ENST00000417510.1 - 0 337 atatcctcctccaaagccact 0.627000 9 27 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51173027 51173027 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:51173027G>A ENST00000440970.1 - 2 3246 c.2815C>T c.(2815-2817)Cgt>Tgt p.R939C SALL1_ENST00000251020.4_Missense_Mutation_p.R1036C|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 1036 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) GAAAAGCCACGATTGCAAACT 0.448000 13 15 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63246607 63246607 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:63246607C>T ENST00000322893.7 - 10 2126 c.1858G>A c.(1858-1860)Gaa>Aaa p.E620K KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Missense_Mutation_p.E562K NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 620 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) AGGGTGGTTTCCTTCCAGAAG 0.433000 7 36 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43819858 43819858 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:43819858C>T ENST00000382031.1 + 5 6932 c.6901C>T c.(6901-6903)Ccc>Tcc p.P2301S MAP1A_ENST00000399453.1_Missense_Mutation_p.P2063S|MAP1A_ENST00000300231.5_Missense_Mutation_p.P2063S P78559 MAP1A_HUMAN microtubule-associated protein 1A 2063 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) ACCTGCAGTTCCCCCCCGTGC 0.617000 5 26 0 0 1 0 0 GRM6 2916 broad.mit.edu 37 5 178413566 178413566 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:178413566C>T ENST00000231188.5 - 8 1867 c.1689G>A c.(1687-1689)agG>agA p.R563R GRM6_ENST00000517717.1_Silent_p.R563R|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 563 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) TGGGCGTGGGCCTCATGTCCC 0.701000 8 26 0 0 1 0 0 TTC39B 158219 broad.mit.edu 37 9 15190619 15190619 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:15190619C>T ENST00000355694.2 - 11 1074 c.840G>A c.(838-840)agG>agA p.R280R TTC39B_ENST00000507993.1_Silent_p.R181R|TTC39B_ENST00000297615.5_Silent_p.R277R|TTC39B_ENST00000380850.4_Silent_p.R346R|TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000507285.1_Silent_p.R181R|TTC39B_ENST00000512701.1_Silent_p.R346R NM_001168339.1|NM_152574.2 NP_001161811.1|NP_689787.2 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 280 binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 ACCTCATGCTCCTTCCTGAAG 0.393000 11 37 0 0 1 0 0 SLC4A8 9498 broad.mit.edu 37 12 51888893 51888893 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:51888893C>T ENST00000453097.2 + 21 3151 c.2934C>T c.(2932-2934)ttC>ttT p.F978F SLC4A8_ENST00000358657.3_Silent_p.F1005F NM_001039960.2|NM_001258401.2 NP_001035049.1|NP_001245330.1 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 8 978 bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5) 55 BRCA - Breast invasive adenocarcinoma(357;0.15) CCATTGTTTTCCCAATGATGG 0.388000 15 31 0 0 1 0 0 MRPS27 23107 broad.mit.edu 37 5 71533925 71533925 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:71533925C>T ENST00000261413.5 - 5 351 c.312G>A c.(310-312)ctG>ctA p.L104L MRPS27_ENST00000457646.4_Silent_p.L48L|MRPS27_ENST00000515404.1_Silent_p.L48L|MRPS27_ENST00000513900.1_Silent_p.L118L|MRPS27_ENST00000522562.1_5'UTR NM_015084.2 NP_055899.2 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 104 mitochondrion|ribosome breast(1)|endometrium(1)|large_intestine(2)|lung(2) 6 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) TCCAGTTTCTCAGGTACCAGC 0.413000 8 35 0 0 1 0 0 IL12B 3593 broad.mit.edu 37 5 158750299 158750299 + Missense_Mutation SNP C C T rs144020395 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:158750299C>T ENST00000231228.2 - 3 582 c.127G>A c.(127-129)Gga>Aga p.G43R NM_002187.2 NP_002178.2 P29460 IL12B_HUMAN interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 43 Ig-like C2-type. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCATTTCTCCAGGGGCATCC 0.507000 10 28 0 0 1 0 0 PCCB 5096 broad.mit.edu 37 3 136019952 136019952 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:136019952C>T ENST00000471595.1 + 9 983 c.966_splice c.e9+1 p.S322_splice PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000469217.1_Splice_Site_p.S342_splice|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000466072.1_Splice_Site_p.S322_splice|PCCB_ENST00000483687.1_Splice_Site_p.S303_splice|PCCB_ENST00000462637.1_Splice_Site_p.S299_splice|PCCB_ENST00000468777.1_Splice_Site_p.S353_splice|PCCB_ENST00000482086.1_Splice_Site_p.S206_splice|PCCB_ENST00000490504.1_Splice_Site_p.S265_splice|PCCB_ENST00000251654.4_Splice_Site_p.S322_splice P05166 PCCB_HUMAN propionyl CoA carboxylase, beta polypeptide 322 Carboxyltransferase. fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) ATCATACACTCTGTAAGTGCC 0.488000 8 29 0 0 1 0 0 WNT2 7472 broad.mit.edu 37 7 116937775 116937775 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:116937775C>T ENST00000265441.3 - 4 1043 c.744G>A c.(742-744)caG>caA p.Q248Q NM_003391.2 NP_003382.1 P09544 WNT2_HUMAN wingless-type MMTV integration site family member 2 248 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2) 31 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CTGTGCCATCCTGGTTCATGA 0.502000 20 59 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55566502 55566502 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:55566502G>A ENST00000373965.2 - 36 5286 c.4892C>T c.(4891-4893)cCa>cTa p.P1631L PCDH15_ENST00000414778.1_Missense_Mutation_p.P1628L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GTTCCTTAGTGGCTTCACCGC 0.448000 HNSCC(58;0.16) 64 158 0 0 1 0 0 PTBP3 9991 broad.mit.edu 37 9 115024768 115024768 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:115024768G>A ENST00000334318.6 - 6 742 c.556C>T c.(556-558)Cga>Tga p.R186* PTBP3_ENST00000374255.2_Nonsense_Mutation_p.R183*|PTBP3_ENST00000343327.2_Nonsense_Mutation_p.R88*|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000374257.1_Nonsense_Mutation_p.R155*|PTBP3_ENST00000458258.1_Nonsense_Mutation_p.R189* NM_001163790.2|NM_005156.6 NP_001157262.1|NP_005147.3 O95758 ROD1_HUMAN polypyrimidine tract binding protein 3 183 RRM 2. anatomical structure morphogenesis|mRNA processing nucleus nucleotide binding|RNA binding ATAATTATTCGAAGCACAGGG 0.468000 14 43 0 0 1 0 0 FOLH1 2346 broad.mit.edu 37 11 49208219 49208219 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:49208219C>T ENST00000340334.7 - 6 939 c.571G>A c.(571-573)Ggg>Agg p.G191R FOLH1_ENST00000256999.2_Missense_Mutation_p.G206R|FOLH1_ENST00000533034.1_Missense_Mutation_p.G191R|FOLH1_ENST00000356696.3_Missense_Mutation_p.G206R|FOLH1_ENST00000343844.4_5'UTR NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 206 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) AAAACTTTCCCATATCTGGCA 0.338000 17 39 0 0 1 0 0 NR6A1 2649 broad.mit.edu 37 9 127302395 127302395 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:127302395G>A ENST00000487099.2 - 5 670 c.513C>T c.(511-513)aaC>aaT p.N171N NR6A1_ENST00000373584.3_Silent_p.N167N|NR6A1_ENST00000416460.2_Silent_p.N167N|NR6A1_ENST00000344523.4_Silent_p.N171N NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 171 cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 TATCACCATGGTTGCTCCAGT 0.498000 40 94 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618367 77618367 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:77618367C>T ENST00000521891.2 + 2 2492 c.2044C>T c.(2044-2046)Cct>Tct p.P682S ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P682S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P682S|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P682S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 682 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GACTGGACAGCCTCACCCCAG 0.512000 HNSCC(33;0.089) 9 24 0 0 1 0 0 NME6 10201 broad.mit.edu 37 3 48338250 48338250 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:48338250C>T ENST00000421967.1 - 3 229 c.184G>A c.(184-186)Gaa>Aaa p.E62K ZNF589_ENST00000412564.1_Intron|NME6_ENST00000435684.1_Missense_Mutation_p.E54K|NME6_ENST00000452211.1_Missense_Mutation_p.E54K|NME6_ENST00000442597.1_Missense_Mutation_p.E54K|NME6_ENST00000447314.1_Missense_Mutation_p.E9K|NME6_ENST00000450160.1_Missense_Mutation_p.E54K|NME6_ENST00000444069.1_Intron|NME6_ENST00000426689.2_Missense_Mutation_p.E54K|NME6_ENST00000426723.1_Missense_Mutation_p.E54K|NME6_ENST00000415644.1_Missense_Mutation_p.E54K|NME6_ENST00000451657.1_Missense_Mutation_p.E54K|NME6_ENST00000415053.1_Missense_Mutation_p.E54K NM_005793.3 NP_005784.1 O75414 NDK6_HUMAN NME/NM23 nucleoside diphosphate kinase 6 54 anti-apoptosis|apoptosis|CTP biosynthetic process|GTP biosynthetic process|negative regulation of cell growth|negative regulation of mitosis|UTP biosynthetic process mitochondrion ATP binding|metal ion binding|nucleoside diphosphate kinase activity breast(1)|large_intestine(5) 6 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) TGGCAATCTTCCTTTCTCCAC 0.428000 14 38 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74519768 74519768 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:74519768C>T ENST00000437994.2 + 27 3848 c.3417C>T c.(3415-3417)tcC>tcT p.S1139S CD109_ENST00000287097.5_Silent_p.S1139S|CD109_ENST00000422508.2_Silent_p.S1062S NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 1139 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AGCCACGCTCCCTGGATATTG 0.448000 10 12 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109731695 109731695 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:109731695C>T ENST00000369939.3 + 10 1410 c.1227C>T c.(1225-1227)acC>acT p.T409T KIAA1324_ENST00000529753.1_Silent_p.T322T|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 409 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CAGACTGTACCCGCTGCCCTG 0.527000 20 76 0 0 1 0 0 TMEM110 375346 broad.mit.edu 37 3 52876848 52876848 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:52876848G>A ENST00000355083.5 - 7 892 c.747C>T c.(745-747)tcC>tcT p.S249S TMEM110-MUSTN1_ENST00000504329.1_Silent_p.S249S|TMEM110_ENST00000464769.1_5'UTR NM_198563.2 NP_940965.1 transmembrane protein 110 kidney(1)|large_intestine(1)|lung(2) 4 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) ACTCCTCGTGGGATGCGGCCC 0.592000 19 30 0 0 1 0 0 NHS 4810 broad.mit.edu 37 X 17750517 17750517 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:17750517C>T ENST00000380060.3 + 8 5164 c.4826C>T c.(4825-4827)tCc>tTc p.S1609F NHS_ENST00000398097.3_Missense_Mutation_p.S1453F NM_198270.2 NP_938011.1 Q6T4R5 NHS_HUMAN Nance-Horan syndrome (congenital cataracts and dental anomalies) 1609 nucleus breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 71 Hepatocellular(33;0.183) CAGGCAATCTCCGAGGGAGAG 0.602000 26 24 0 0 1 0 0 STRN 6801 broad.mit.edu 37 2 37152304 37152304 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:37152304C>T ENST00000263918.4 - 2 290 c.282G>A c.(280-282)ttG>ttA p.L94L STRN_ENST00000379213.2_Silent_p.L82L NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 94 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) GATCCTTCTTCAAATTTTCTT 0.368000 4 90 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004508 74004508 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:74004508C>T ENST00000301607.3 - 22 5031 c.4778G>A c.(4777-4779)gGg>gAg p.G1593E EVPL_ENST00000586740.1_Missense_Mutation_p.G1615E NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1593 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 CTGCAGCCGCCCACACTCCTG 0.687000 7 11 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19765491 19765491 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:19765491G>A ENST00000357324.6 - 13 1700 c.1674C>T c.(1672-1674)acC>acT p.T558T ATP13A1_ENST00000291503.5_Silent_p.T440T|ATP13A1_ENST00000496082.1_5'UTR NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 558 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TGGACACTGGGGTCACCTCCT 0.637000 19 37 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887625 3887625 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:3887625C>T ENST00000319331.3 + 2 2061 c.1300C>T c.(1300-1302)Cgt>Tgt p.R434C SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 434 Ig-like C2-type. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) CTTCCCAAATCGTTTAAACGT 0.478000 22 61 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152470621 152470621 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:152470621G>A ENST00000367255.5 - 136 25234 c.24633C>T c.(24631-24633)atC>atT p.I8211I SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Silent_p.I7823I|SYNE1_ENST00000539504.1_Silent_p.I366I|SYNE1_ENST00000448038.1_Silent_p.I8140I|SYNE1_ENST00000356820.4_Silent_p.I2735I|SYNE1_ENST00000265368.4_Silent_p.I8211I|SYNE1_ENST00000354674.4_Silent_p.I366I|SYNE1_ENST00000423061.1_Silent_p.I8140I NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8211 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAGGCAGGCGGATCAGTTTCT 0.468000 HNSCC(10;0.0054) 25 43 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77257398 77257398 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:77257398C>T ENST00000376896.2 + 4 916 c.304C>T c.(304-306)Cag>Tag p.Q102* RORB_ENST00000396204.2_Nonsense_Mutation_p.Q113* NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 113 Hinge (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 gaagcaccagcagcggctgca 0.562000 19 45 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24417382 24417382 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:24417382C>T ENST00000330966.7 - 12 1502 c.1340G>A c.(1339-1341)cGg>cAg p.R447Q MYOM3_ENST00000374434.3_Missense_Mutation_p.R446Q|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.R446Q Q5VTT5 MYOM3_HUMAN myomesin 3 446 Fibronectin type-III 1. NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGCTCTCACCCGGAACCGATA 0.632000 22 65 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93104339 93104339 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:93104339G>A ENST00000298050.3 + 7 782 c.682G>A c.(682-684)Gaa>Aaa p.E228K NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 228 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) GTTCATTATTGAAAAACTGAA 0.348000 4 16 0 0 1 0 0 ENG 2022 broad.mit.edu 37 9 130587172 130587172 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:130587172G>A ENST00000344849.3 - 7 1178 c.898C>T c.(898-900)Ctg>Ttg p.L300L ENG_ENST00000480266.1_5'UTR|ENG_ENST00000373203.4_Silent_p.L300L P17813 EGLN_HUMAN endoglin 300 artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 GCCTCCCCCAGGAGGCCTTGA 0.557000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 18 46 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 48040154 48040154 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:48040154G>A ENST00000426837.2 - 2 284 c.197C>T c.(196-198)cCg>cTg p.P66L MAP4_ENST00000439356.1_Missense_Mutation_p.P66L|MAP4_ENST00000383737.4_Missense_Mutation_p.P66L|MAP4_ENST00000434267.1_Missense_Mutation_p.P66L|MAP4_ENST00000360240.6_Missense_Mutation_p.P66L|MAP4_ENST00000395734.3_Missense_Mutation_p.P66L P27816 MAP4_HUMAN microtubule-associated protein 4 66 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TTCTGAGCACGGTTTCTTCTT 0.403000 33 93 0 0 1 0 0 NOXRED1 122945 broad.mit.edu 37 14 77880383 77880383 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:77880383G>A ENST00000380835.2 - 2 409 c.243C>T c.(241-243)atC>atT p.I81I NOXRED1_ENST00000298358.3_Silent_p.I81I NM_001113475.2 NP_001106946.1 Q6NXP6 CN148_HUMAN NADP-dependent oxidoreductase domain containing 1 81 proline biosynthetic process binding|pyrroline-5-carboxylate reductase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 9 CACCTCCAATGATGCCCACCT 0.522000 12 14 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6188931 6188931 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:6188931C>T ENST00000262450.3 - 23 3685 c.3586G>A c.(3586-3588)Ggc>Agc p.G1196S CHD5_ENST00000378021.1_Missense_Mutation_p.G53S NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1196 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) TCCTCCGTGCCGAACTTGAGG 0.657000 10 32 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21235039 21235039 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:21235039C>T ENST00000233242.1 - 26 4828 c.4701G>A c.(4699-4701)gaG>gaA p.E1567E NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1567 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTAAAGTCAGCTCGTAGTTCT 0.423000 125 359 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36498978 36498978 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:36498978G>A ENST00000342292.4 - 1 715 c.695C>T c.(694-696)cCt>cTt p.P232L NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 232 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TTCCAGGAAAGGAGGAGACAG 0.602000 26 63 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117351222 117351222 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:117351222C>T ENST00000321322.6 - 14 2902 c.2901G>A c.(2899-2901)tgG>tgA p.W967* DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.W697* NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 907 Fibronectin type-III 1. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ATCGCTGGGTCCAGCGCAGGT 0.632000 8 10 0 0 1 0 0 OR13H1 347468 broad.mit.edu 37 X 130678378 130678378 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:130678378G>A ENST00000338616.3 + 1 429 c.331G>A c.(331-333)Gag>Aag p.E111K NM_001004486.1 NP_001004486.1 Q8NG92 O13H1_HUMAN olfactory receptor, family 13, subfamily H, member 1 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 Acute lymphoblastic leukemia(192;0.000636) GGCCACAGCAGAGTGCCTCCT 0.527000 34 20 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101839972 101839972 + Silent SNP G G C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:101839972G>C ENST00000360264.3 + 15 1334 c.1314G>C c.(1312-1314)ccG>ccC p.P438P CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000550008.2_Silent_p.P427P|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000546411.2_Intron|CUX1_ENST00000549414.2_Silent_p.P427P|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000292535.7_Silent_p.P427P NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 427 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 GATCTTTGCCGGCCCCCCCTC 0.562000 23 45 0 0 1 0 0 PHF2 5253 broad.mit.edu 37 9 96408008 96408008 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:96408008G>A ENST00000359246.4 + 4 764 c.397G>A c.(397-399)Gac>Aac p.D133N PHF2_ENST00000375376.4_Intron NM_005392.3 NP_005383.3 O75151 PHF2_HUMAN PHD finger protein 2 133 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) CCCTAAGAAAGACGGGCTGGG 0.622000 14 52 0 0 1 0 0 FKBP5 2289 broad.mit.edu 37 6 35610568 35610568 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:35610568C>T ENST00000542713.1 - 2 191 c.34G>A c.(34-36)Gaa>Aaa p.E12K FKBP5_ENST00000357266.4_Missense_Mutation_p.E12K|FKBP5_ENST00000536438.1_Missense_Mutation_p.E12K|FKBP5_ENST00000540787.1_Intron|FKBP5_ENST00000539068.1_Missense_Mutation_p.E12K NM_001145777.1 NP_001139249.1 Q13451 FKBP5_HUMAN FK506 binding protein 5 12 protein folding cytoplasm|membrane|nucleus FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2) 17 GTGGGGCTTTCTTCATTGTTC 0.403000 46 167 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57646636 57646636 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:57646636G>A ENST00000269834.1 - 5 1454 c.1069C>T c.(1069-1071)Cac>Tac p.H357Y NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTCCCAGTGTGAATTTTCTCA 0.393000 23 96 0 0 1 0 0 PTDSS2 81490 broad.mit.edu 37 11 489449 489449 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:489449C>T ENST00000308020.5 + 9 1080 c.904C>T c.(904-906)Cgc>Tgc p.R302C NM_030783.1 NP_110410.1 Q9BVG9 PTSS2_HUMAN phosphatidylserine synthase 2 302 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) CAGCTGGGTTCGCTTCGAGTG 0.687000 10 24 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25446337 25446337 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:25446337C>T ENST00000424208.1 + 0 1912 SNHG14_ENST00000424333.1_RNA NR_003305.1 GGCCAGTATCCGTCAGCCTGG 0.572000 10 19 0 0 1 0 0 C14orf159 80017 broad.mit.edu 37 14 91642297 91642297 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:91642297G>A ENST00000518868.1 + 10 1317 c.627G>A c.(625-627)gaG>gaA p.E209E C14orf159_ENST00000522322.1_Silent_p.E204E|C14orf159_ENST00000412671.2_Silent_p.E209E|C14orf159_ENST00000520328.1_Silent_p.E192E|C14orf159_ENST00000256324.10_Silent_p.E209E|C14orf159_ENST00000521077.2_Silent_p.E209E|C14orf159_ENST00000523771.1_Silent_p.E204E|C14orf159_ENST00000523816.1_Silent_p.E204E|C14orf159_ENST00000525393.2_Silent_p.E80E|C14orf159_ENST00000428926.2_Silent_p.E204E Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 204 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) GAATCAAAGAGCTTTCCAAAC 0.502000 15 59 0 0 1 0 0 OR10K1 391109 broad.mit.edu 37 1 158435818 158435818 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:158435818C>T ENST00000289451.2 + 1 547 c.467C>T c.(466-468)tCc>tTc p.S156F NM_001004473.1 NP_001004473.1 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, member 1 156 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 27 all_hematologic(112;0.0378) TTCACTGTCTCCCTGGTCACC 0.532000 46 134 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18534758 18534758 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:18534758G>A ENST00000433979.1 + 13 1932 c.1816G>A c.(1816-1818)Gaa>Aaa p.E606K PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E647K|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E606K NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 606 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) GCCTCCCGTAGAAATGATAAC 0.473000 37 84 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922597 24922597 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:24922597C>T ENST00000329468.2 + 1 2057 c.1583C>T c.(1582-1584)tCc>tTc p.S528F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTCCTCTTTCCTTCCTGACT 0.532000 45 123 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535652 69535652 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:69535652C>T ENST00000338206.5 - 1 694 c.685G>A c.(685-687)Gat>Aat p.D229N NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 229 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity TTCTTCAGATCATAAATTTGA 0.323000 45 99 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886004 88886004 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:88886004G>A ENST00000319675.3 - 1 292 c.196C>T c.(196-198)Ccc>Tcc p.P66S NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 66 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AAAGAGGAGGGATCCCAGCTA 0.517000 30 52 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543161 28543161 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:28543161C>T ENST00000452236.2 - 3 1938 c.1321G>A c.(1321-1323)Gaa>Aaa p.E441K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 441 Integrase catalytic. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity p.E441K(1) NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 CTTGAAAATTCCCTCCCATTG 0.418000 19 47 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32954009 32954009 + Nonsense_Mutation SNP C C T rs80359159 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:32954009C>T ENST00000544455.1 + 23 9303 c.9076C>T c.(9076-9078)Cag>Tag p.Q3026* BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Q3026* NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 3026 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) AGCTAACATACAGTTAGCAGC 0.308000 """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) 8 30 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70884520 70884520 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:70884520C>T ENST00000393567.2 - 74 12632 c.12482G>A c.(12481-12483)gGa>gAa p.G4161E NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4161 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GTTCACATCTCCTTCCTGCTT 0.408000 9 10 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52619357 52619357 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:52619357T>C ENST00000600228.1 - 4 1321 c.1060A>G c.(1060-1062)Aaa>Gaa p.K354E ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 354 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) ACATCACATTTATATGGTTTC 0.408000 37 96 0 0 1 0 0 ZNF681 148213 broad.mit.edu 37 19 23927413 23927413 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:23927413C>T ENST00000402377.3 - 4 1080 c.939G>A c.(937-939)aaG>aaA p.K313K ZNF681_ENST00000395385.3_Silent_p.K244K NM_138286.2 NP_612143.2 Q96N22 ZN681_HUMAN zinc finger protein 681 313 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3) 21 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TGCCACATTCCTTATATTCAT 0.383000 9 37 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101971544 101971544 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:101971544G>A ENST00000348070.1 - 5 634 c.635C>T c.(634-636)cCt>cTt p.P212L PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.P212L|PCSK6_ENST00000344273.2_Missense_Mutation_p.P212L|PCSK6_ENST00000358417.3_Missense_Mutation_p.P212L|PCSK6_ENST00000331826.7_Missense_Mutation_p.P47L NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 213 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GGCCAGGTCAGGGTGATTTCT 0.448000 7 17 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169392998 169392998 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:169392998G>A ENST00000511577.1 - 4 411 c.164C>T c.(163-165)tCa>tTa p.S55L DDX60L_ENST00000505890.1_Missense_Mutation_p.S55L|DDX60L_ENST00000260184.7_Missense_Mutation_p.S55L|DDX60L_ENST00000515088.1_5'UTR Q5H9U9 DDX6L_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like 55 ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CCACTTGAATGATTTTACACC 0.353000 17 33 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130922999 130922999 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:130922999C>T ENST00000261655.4 - 9 1679 c.1516G>A c.(1516-1518)Gtc>Atc p.V506I RIMBP2_ENST00000536002.1_Missense_Mutation_p.V414I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.V414I NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 506 Fibronectin type-III 3. 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) CTCCAGGAGACCCGGATGGTG 0.647000 7 20 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173490 126173490 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:126173490G>A ENST00000339582.2 - 9 2754 c.1946C>T c.(1945-1947)tCc>tTc p.S649F GRM8_ENST00000444921.2_Missense_Mutation_p.S649F|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.S649F O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 649 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane p.S649F(1) 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) CCGTCGGAAGGAGCATATGAT 0.453000 HNSCC(24;0.065) 21 31 0 0 1 0 0 GIMAP6 474344 broad.mit.edu 37 7 150327167 150327167 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:150327167G>A ENST00000328902.5 - 2 280 c.64C>T c.(64-66)Cct>Tct p.P22S GIMAP6_ENST00000493969.1_Missense_Mutation_p.P22S NM_001244072.1|NM_024711.5 NP_001231001.1|NP_078987.3 Q6P9H5 GIMA6_HUMAN GTPase, IMAP family member 6 22 GTP binding endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCCAGCACAGGATCCTGGGAC 0.453000 59 151 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732336 152732336 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:152732336C>T ENST00000368773.1 + 2 330 c.272C>T c.(271-273)aCc>aTc p.T91I KPRP_ENST00000606109.1_Missense_Mutation_p.T91I NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 91 Gln-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) CAGTCTAAGACCACCCAGGTG 0.562000 41 145 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95172263 95172263 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:95172263C>T ENST00000027335.3 - 12 1611 c.1487G>A c.(1486-1488)aGt>aAt p.S496N CDH17_ENST00000441892.2_Missense_Mutation_p.S282N|CDH17_ENST00000450165.2_Missense_Mutation_p.S496N NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 496 Cadherin 5. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GCGTCCCTCACTGTCTCCCTT 0.413000 33 61 0 0 1 0 0 OR51E1 143503 broad.mit.edu 37 11 4673854 4673854 + Missense_Mutation SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:4673854C>A ENST00000396952.5 + 2 748 c.98C>A c.(97-99)cCa>cAa p.P33Q OR51E1_ENST00000530215.1_Missense_Mutation_p.P33Q NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2) 30 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGGCCTTCCCATTGTGCTCC 0.463000 34 70 1.58521e-26 1.61691e-26 1 1 0 CAMK4 814 broad.mit.edu 37 5 110560272 110560272 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:110560272G>A ENST00000282356.4 + 1 489 c.91G>A c.(91-93)Gat>Aat p.D31N CAMK4_ENST00000512453.1_Missense_Mutation_p.D31N NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 31 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) CCTCGTCCCGGATTACTGGAT 0.677000 5 23 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49741385 49741385 + Missense_Mutation SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:49741385A>C ENST00000492622.2 + 9 1288 c.983A>C c.(982-984)gAa>gCa p.E328A FNDC3A_ENST00000398316.3_Missense_Mutation_p.E272A|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E328A NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 328 Fibronectin type-III 1. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) CCCAGAGGAGAAGAAACAAAT 0.328000 6 24 0 0 1 0 0 CLCN1 1180 broad.mit.edu 37 7 143018899 143018899 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:143018899C>T ENST00000343257.2 + 5 741 c.654C>T c.(652-654)gcC>gcT p.A218A CLCN1_ENST00000495612.1_3'UTR NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 218 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) AGGTTGTCGCCCTGACTGCGG 0.587000 10 30 0 0 1 0 0 MAP4 4134 broad.mit.edu 37 3 48040155 48040155 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:48040155G>A ENST00000426837.2 - 2 283 c.196C>T c.(196-198)Ccg>Tcg p.P66S MAP4_ENST00000439356.1_Missense_Mutation_p.P66S|MAP4_ENST00000383737.4_Missense_Mutation_p.P66S|MAP4_ENST00000434267.1_Missense_Mutation_p.P66S|MAP4_ENST00000360240.6_Missense_Mutation_p.P66S|MAP4_ENST00000395734.3_Missense_Mutation_p.P66S P27816 MAP4_HUMAN microtubule-associated protein 4 66 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) TCTGAGCACGGTTTCTTCTTT 0.403000 32 92 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20974815 20974815 + Missense_Mutation SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:20974815C>A ENST00000261383.3 - 53 10390 c.10391G>T c.(10390-10392)tGg>tTg p.W3464L DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3464 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGAGAACTTCCAAGACCCAGG 0.522000 13 47 0.000151284 0.000152465 1 1 0 FAT4 79633 broad.mit.edu 37 4 126373533 126373533 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:126373533G>A ENST00000394329.3 + 9 11375 c.11362G>A c.(11362-11364)Gag>Aag p.E3788K FAT4_ENST00000335110.5_Missense_Mutation_p.E2086K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3788 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAGCATCAAAGAGATCCTTCT 0.463000 18 35 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30315034 30315034 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:30315034G>A ENST00000375377.1 - 3 4144 c.4043C>T c.(4042-4044)cCa>cTa p.P1348L NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 1348 P -> R (in Ref. 6; AAH47548). breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TTCCTCACCTGGGCACCAGAA 0.483000 25 74 0 0 1 0 0 POU5F2 134187 broad.mit.edu 37 5 93076451 93076451 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:93076451G>A ENST00000510627.4 - 1 892 c.819C>T c.(817-819)tcC>tcT p.S273S FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000509739.1_Intron NM_153216.1 NP_694948.1 Q8N7G0 PO5F2_HUMAN POU domain class 5, transcription factor 2 273 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19) UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19) TCTCCCGTGGGGAAGCATCAT 0.582000 5 12 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846885 123846885 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:123846885C>T ENST00000369005.1 + 4 5210 c.4870C>T c.(4870-4872)Cca>Tca p.P1624S TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.P1624S|TACC2_ENST00000453444.2_Missense_Mutation_p.P1624S|TACC2_ENST00000515273.1_Missense_Mutation_p.P1624S|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P1624S NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1624 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) CACAGGGGTTCCAGGACATGT 0.572000 7 43 0 0 1 0 0 GCSAML 148823 broad.mit.edu 37 1 247726896 247726896 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:247726896G>A ENST00000366491.2 + 5 531 c.34G>A c.(34-36)Gaa>Aaa p.E12K GCSAML_ENST00000366489.1_Missense_Mutation_p.E12K|GCSAML_ENST00000527541.1_5'UTR|GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000366488.4_Missense_Mutation_p.E32K|GCSAML_ENST00000536561.1_Missense_Mutation_p.E12K germinal center-associated, signaling and motility-like TTGTAGGCAGGAAATGACTAC 0.358000 3 14 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8140033 8140033 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:8140033A>T ENST00000600128.1 - 61 8038 c.7624T>A c.(7624-7626)Tgt>Agt p.C2542S FBN3_ENST00000270509.2_Missense_Mutation_p.C2542S|FBN3_ENST00000601739.1_Missense_Mutation_p.C2542S Q75N90 FBN3_HUMAN fibrillin 3 2542 EGF-like 42; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGGTTCTGACAGCCATGCTGG 0.607000 28 87 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 601608 601608 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:601608C>T ENST00000264555.5 + 10 1187 c.1059C>T c.(1057-1059)acC>acT p.T353T PHRF1_ENST00000533464.1_Silent_p.T349T|PHRF1_ENST00000416188.2_Silent_p.T353T|PHRF1_ENST00000413872.2_Silent_p.T352T NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 353 Arg-rich. 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 GAAAGAAAACCCCGTCCGGAC 0.507000 14 45 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6986186 6986186 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:6986186C>T ENST00000389658.3 - 37 5422 c.5329G>A c.(5329-5331)Gaa>Aaa p.E1777K NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1777 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGGTTGCTTTCCTGCATCTTT 0.473000 29 89 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124696789 124696789 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:124696789G>A ENST00000311127.4 - 15 3802 c.3733_splice c.e15-1 p.P1245_splice NM_020733.1 NP_065784.1 Q9ULI3 HEG1_HUMAN heart development protein with EGF-like domains 1 1245 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 TAAGCTGATAGGCTAAACGTA 0.488000 5 7 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900748 51900748 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:51900748G>A ENST00000268919.4 + 1 510 c.354G>A c.(352-354)atG>atA p.M118I NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 118 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GGGTTGCGATGATCCCCCAGA 0.607000 28 153 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42482888 42482888 + Silent SNP G G A rs146606627 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:42482888G>A ENST00000545399.1 - 12 1692 c.1539C>T c.(1537-1539)gcC>gcT p.A513A ATP1A3_ENST00000543770.1_Silent_p.A511A|ATP1A3_ENST00000302102.5_Silent_p.A500A|ATP1A3_ENST00000602133.1_Silent_p.A470A NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 500 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 TGCGCTCGGGGGCACCCTTCA 0.622000 29 75 0 0 1 0 0 CCDC60 160777 broad.mit.edu 37 12 119909868 119909868 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:119909868A>T ENST00000327554.2 + 3 705 c.240A>T c.(238-240)aaA>aaT p.K80N RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR NM_178499.3 NP_848594.2 Q8IWA6 CCD60_HUMAN coiled-coil domain containing 60 80 endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.207) CTGCAAAGAAAAAGAAGCAAC 0.433000 37 82 0 0 1 0 0 UTY 7404 broad.mit.edu 37 Y 15410906 15410906 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrY:15410906C>T ENST00000331397.4 - 24 4515 c.3508G>A c.(3508-3510)Ggc>Agc p.G1170S UTY_ENST00000362096.4_Missense_Mutation_p.G1170S|UTY_ENST00000537580.1_Missense_Mutation_p.G1091S|UTY_ENST00000382896.4_Missense_Mutation_p.G1215S NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked 1170 JmjC. chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 TGCACAGTGCCTGCATTTATC 0.423000 8 3 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29294425 29294425 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:29294425G>A ENST00000331664.5 - 1 2702 c.2703C>T c.(2701-2703)acC>acT p.T901T NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 901 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TGTGAGGCTTGGTCAGGCTGG 0.677000 10 22 0 0 1 0 0 ZDHHC17 23390 broad.mit.edu 37 12 77191256 77191256 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:77191256C>T ENST00000426126.2 + 2 785 c.136C>T c.(136-138)Cct>Tct p.P46S ZDHHC17_ENST00000359019.4_Intron|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.P46S NM_015336.2 NP_056151.2 Q8IUH5 ZDH17_HUMAN zinc finger, DHHC-type containing 17 46 lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi-associated vesicle membrane|integral to membrane magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14) 23 ATATGGTGAACCTCTTGGACG 0.363000 13 23 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182339713 182339713 + Nonsense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:182339713A>T ENST00000397033.2 + 3 776 c.346A>T c.(346-348)Aag>Tag p.K116* ITGA4_ENST00000478440.1_3'UTR|ITGA4_ENST00000339307.4_Nonsense_Mutation_p.K116* NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 116 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ACCTTGTGGAAAGACTTGTTT 0.413000 24 20 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33635004 33635004 + Silent SNP C C T rs141133607 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:33635004C>T ENST00000380099.3 + 4 1796 c.1788C>T c.(1786-1788)tcC>tcT p.S596S KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 596 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTCGCTTCTCCCTGGACTGGG 0.532000 21 68 0 0 1 0 0 ZNF71 58491 broad.mit.edu 37 19 57132728 57132728 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:57132728C>T ENST00000328070.6 + 3 307 c.73C>T c.(73-75)Ccc>Tcc p.P25S NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 25 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CACGGGGGGACCCACGAGGAA 0.582000 13 39 0 0 1 0 0 SP110 3431 broad.mit.edu 37 2 231037598 231037598 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:231037598G>A ENST00000258381.6 - 15 1745 c.1668C>T c.(1666-1668)ttC>ttT p.F556F AC009950.2_ENST00000595586.1_RNA|AC009950.2_ENST00000600787.1_RNA|AC009950.2_ENST00000454058.1_RNA|AC009950.2_ENST00000594622.1_RNA|SP110_ENST00000358662.4_Silent_p.F556F NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 556 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) AGTCCTCATGGAAGACTCGTG 0.587000 22 23 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73163946 73163946 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:73163946C>T ENST00000545377.1 + 20 2495 c.2319C>T c.(2317-2319)tcC>tcT p.S773S ARHGEF28_ENST00000437974.1_Silent_p.S773S|ARHGEF28_ENST00000296794.6_Silent_p.S773S|ARHGEF28_ENST00000426542.2_Silent_p.S773S|ARHGEF28_ENST00000513042.2_Silent_p.S773S|ARHGEF28_ENST00000287898.5_Silent_p.S773S|ARHGEF28_ENST00000296799.4_Silent_p.S460S NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CAGCCACATCCTTGGAGTCTG 0.498000 7 12 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209785353 209785353 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:209785353G>A ENST00000009105.1 + 11 1377 c.1132G>A c.(1132-1134)Ggc>Agc p.G378S CAMK1G_ENST00000361322.2_Missense_Mutation_p.G378S Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 378 Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CTGCCAGCATGGCCGCCGGCC 0.637000 27 75 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63453901 63453901 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:63453901C>T ENST00000322893.7 - 5 706 c.438G>A c.(436-438)tgG>tgA p.W146* KCNH5_ENST00000420622.2_Nonsense_Mutation_p.W146*|KCNH5_ENST00000394964.2_Nonsense_Mutation_p.W88*|KCNH5_ENST00000394968.1_Nonsense_Mutation_p.W88* NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 146 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) CAAATTTCGTCCAACCTTAAA 0.378000 20 37 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25425564 25425564 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:25425564C>T ENST00000441592.2 + 0 552 TTCCTGGCATCCTGGTCTCCT 0.597000 23 15 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134079302 134079302 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:134079302G>A ENST00000534548.2 - 5 701 c.637C>T c.(637-639)Cga>Tga p.R213* NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 213 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) ATGGCATTTCGAATTTGAGAA 0.343000 10 34 0 0 1 0 0 DDX54 79039 broad.mit.edu 37 12 113616795 113616795 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:113616795G>A ENST00000314045.7 - 5 628 c.601C>T c.(601-603)Ctg>Ttg p.L201L DDX54_ENST00000306014.5_Silent_p.L201L NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 201 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TCTCCACCCAGGATCAGGGCA 0.547000 6 14 0 0 1 0 0 NCF1B 654816 broad.mit.edu 37 7 72639959 72639959 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:72639959C>T ENST00000423083.1 + 0 158 NR_003186.1 CGCCGAGAACCACCAGGGCAC 0.647000 6 32 0 0 1 0 0 KPRP 448834 broad.mit.edu 37 1 152732337 152732337 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:152732337C>T ENST00000368773.1 + 2 331 c.273C>T c.(271-273)acC>acT p.T91T KPRP_ENST00000606109.1_Silent_p.T91T NM_001025231.1 NP_001020402.1 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 91 Gln-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) AGTCTAAGACCACCCAGGTGA 0.557000 45 144 0 0 1 0 0 PKP2 5318 broad.mit.edu 37 12 32994008 32994008 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:32994008C>T ENST00000340811.4 - 6 1618 c.1510G>A c.(1510-1512)Ggt>Agt p.G504S PKP2_ENST00000070846.6_Missense_Mutation_p.G548S NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 548 cell-cell adhesion desmosome|integral to membrane|nucleus binding NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) TCGAGCAAACCATTTGCTTTT 0.428000 33 112 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19654982 19654982 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:19654982G>A ENST00000586018.1 + 8 1748 c.1646G>A c.(1645-1647)cGa>cAa p.R549Q CILP2_ENST00000291495.4_Missense_Mutation_p.R543Q Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 543 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity p.R543L(1) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 TTTGATCCTCGAGGTGCCGGC 0.607000 21 50 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55863673 55863673 + Missense_Mutation SNP G G C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:55863673G>C ENST00000388975.3 - 10 1348 c.1232C>G c.(1231-1233)gCt>gGt p.A411G NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 411 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTCGGAGGCAGCTTTCATTTT 0.383000 22 63 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2058350 2058350 + Silent SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:2058350G>T ENST00000382203.1 + 8 1616 c.1407G>T c.(1405-1407)gtG>gtT p.V469V SMARCA2_ENST00000357248.2_Silent_p.V469V|SMARCA2_ENST00000382194.1_Silent_p.V469V|SMARCA2_ENST00000349721.2_Silent_p.V469V P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 469 HSA. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) ATCGGTCTGTGGCCGGAAAGA 0.423000 33 110 3.90053e-15 3.97018e-15 1 1 0 INPP5A 3632 broad.mit.edu 37 10 134521849 134521849 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:134521849G>A ENST00000368594.3 + 7 784 c.507G>A c.(505-507)acG>acA p.T169T INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Silent_p.T169T NM_005539.3 NP_005530.3 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase, 40kDa 169 PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500). cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) TCATCCGGACGAGGTGGTGCA 0.468000 6 22 0 0 1 0 0 LY6G6D 58530 broad.mit.edu 37 6 31685450 31685450 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:31685450C>T ENST00000503322.1 + 6 1021 c.1018C>T c.(1018-1020)Cca>Tca p.P340S LY6G6D_ENST00000375825.3_Missense_Mutation_p.P91S|LY6G6F_ENST00000556581.1_Missense_Mutation_p.P340S CGTGACTTATCCAGCCCACAG 0.597000 123 503 0 0 1 0 0 LILRA1 11024 broad.mit.edu 37 19 55106316 55106316 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:55106316C>T ENST00000453777.1 + 4 427 c.257C>T c.(256-258)cCa>cTa p.P86L LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.P86L NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 86 Ig-like C2-type 1. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TTCCCCATCCCATCCATCACC 0.562000 15 64 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95720860 95720860 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:95720860C>T ENST00000480546.1 - 0 437 NR_002319.2 CAAATAGCTCCCAGAAGTAGC 0.502000 21 55 0 0 1 0 0 KHDRBS2 202559 broad.mit.edu 37 6 62604712 62604712 + Missense_Mutation SNP G G A rs139228211 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:62604712G>A ENST00000281156.4 - 6 916 c.638C>T c.(637-639)cCc>cTc p.P213L NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 213 Pro-rich. 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) AGGTGGTGGGGGAGGAGGAAT 0.547000 13 46 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325243 9325243 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9325243C>T ENST00000308682.2 - 1 299 c.271G>A c.(271-273)Gac>Aac p.D91N NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 TAGGAGATGTCTTTGCTCCGT 0.488000 23 48 0 0 1 0 0 LY6K 54742 broad.mit.edu 37 8 143784508 143784508 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:143784508G>A ENST00000292430.6 + 3 634 c.e3-1 LY6K_ENST00000519387.1_Intron|LY6K_ENST00000519390.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000561179.1_Splice_Site Q17RY6 LY6K_HUMAN lymphocyte antigen 6 complex, locus K anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4) 10 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TTTCCTATTAGAAATATTTCC 0.532000 11 18 0 0 1 0 0 ZNF711 7552 broad.mit.edu 37 X 84520135 84520135 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:84520135A>T ENST00000360700.4 + 6 1676 c.790A>T c.(790-792)Att>Ttt p.I264F ZNF711_ENST00000276123.3_Missense_Mutation_p.I264F|ZNF711_ENST00000373165.3_Missense_Mutation_p.I264F|ZNF711_ENST00000395402.1_Missense_Mutation_p.I242F|ZNF711_ENST00000542798.1_Missense_Mutation_p.I60F Q9Y462 ZN711_HUMAN zinc finger protein 711 264 IVT -> MSP (in Ref. 4; CAA39837). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4) 28 TGGAACAGAAATTGTCACAGA 0.368000 12 9 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51571217 51571217 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:51571217C>T ENST00000522124.1 + 15 1693 c.1032C>T c.(1030-1032)atC>atT p.I344I SNTG1_ENST00000276467.5_Silent_p.I344I|SNTG1_ENST00000518864.1_Silent_p.I344I|SNTG1_ENST00000517473.1_Silent_p.I344I NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 344 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TGTGCAAGATCCTCAAGGTAT 0.368000 7 32 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 21752109 21752109 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:21752109C>T ENST00000382254.1 - 15 3208 c.2122G>A c.(2122-2124)Gaa>Aaa p.E708K RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.E708K|CDH12_ENST00000522262.1_Missense_Mutation_p.E668K|CDH12_ENST00000521384.1_5'UTR NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 708 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 GTGTTATCTTCCATGGGTGGT 0.453000 HNSCC(59;0.17) 13 58 0 0 1 0 0 KBTBD12 166348 broad.mit.edu 37 3 127646650 127646650 + Translation_Start_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:127646650G>A ENST00000407609.3 + 0 156 KBTBD12_ENST00000492025.1_Intron|KBTBD12_ENST00000343941.4_Silent_p.Q13Q|KBTBD12_ENST00000405109.1_Missense_Mutation_p.A372T|KBTBD12_ENST00000405256.1_Missense_Mutation_p.A372T Q3ZCT8 KBTBC_HUMAN kelch repeat and BTB (POZ) domain containing 12 endometrium(1)|large_intestine(6)|lung(5)|ovary(1) 13 GTTATGCACAGCTGAATTTCG 0.368000 44 136 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29599253 29599253 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:29599253T>C ENST00000377034.4 - 3 544 c.209A>G c.(208-210)gAg>gGg p.E70G GABBR1_ENST00000376977.3_Missense_Mutation_p.E70G|GABBR1_ENST00000377016.4_Missense_Mutation_p.E70G NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 70 Sushi 1. gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) CACCTCGCGCTCCCCCCGGCA 0.632000 20 110 0 0 1 0 0 FAM198B 51313 broad.mit.edu 37 4 159048669 159048669 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:159048669C>T ENST00000296530.8 - 5 2071 c.1450G>A c.(1450-1452)Gga>Aga p.G484R FAM198B_ENST00000585682.1_Missense_Mutation_p.G484R|FAM198B_ENST00000393807.5_Missense_Mutation_p.G492R NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 484 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 TGTCTACCTCCTTGACTTTCC 0.398000 28 60 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76832252 76832252 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:76832252G>A ENST00000312010.6 - 3 518 c.194C>T c.(193-195)cCc>cTc p.P65L USP36_ENST00000589424.1_Missense_Mutation_p.P65L|USP36_ENST00000542802.2_Missense_Mutation_p.P65L|USP36_ENST00000590546.2_Missense_Mutation_p.P65L NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 65 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CTCTGTTTTGGGGTTGAGCAA 0.547000 34 46 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123539080 123539080 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:123539080C>T ENST00000422452.2 - 27 5255 c.5192G>A c.(5191-5193)gGt>gAt p.G1731D STAG2_ENST00000469481.1_Intron|TENM1_ENST00000371130.3_Missense_Mutation_p.G1724D NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 ACGCAGGGAACCATCTGGATT 0.542000 19 15 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126126092 126126092 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:126126092G>A ENST00000393425.1 + 3 226 c.127G>A c.(127-129)Gaa>Aaa p.E43K CCDC37_ENST00000352312.1_Missense_Mutation_p.E43K|CCDC37_ENST00000505024.1_Missense_Mutation_p.E43K|CCDC37_ENST00000510833.1_Missense_Mutation_p.E43K Q494V2 CCD37_HUMAN coiled-coil domain containing 37 43 NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) AAGAAAAAACGAAGGTAACCT 0.507000 4 22 0 0 1 0 0 TRIM54 57159 broad.mit.edu 37 2 27505722 27505722 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:27505722C>T ENST00000296098.4 + 1 393 c.123C>T c.(121-123)ccC>ccT p.P41P TRIM54_ENST00000380075.2_Silent_p.P41P NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 41 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATCCTGCCCTGCCAACACA 0.602000 68 134 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145541454 145541454 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:145541454C>T ENST00000369304.3 + 28 3417 c.3242C>T c.(3241-3243)tCc>tTc p.S1081F ITGA10_ENST00000539363.1_Missense_Mutation_p.S938F|ITGA10_ENST00000538811.1_Missense_Mutation_p.S950F NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 1081 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AAGTTCAAGTCCCTGACGGTG 0.507000 4 12 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56300662 56300662 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:56300662C>T ENST00000443188.1 - 10 3327 c.2617G>A c.(2617-2619)Gaa>Aaa p.E873K NLRP11_ENST00000592953.1_Missense_Mutation_p.E774K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E819K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E873K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E819K NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 873 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CCTGCATCTTCTATTTTGTTG 0.443000 33 83 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11058251 11058251 + RNA SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:11058251A>T ENST00000470054.1 - 0 396 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) GCACAAGGATAATGATACATC 0.433000 12 99 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 234072499 234072499 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:234072499G>A ENST00000359570.5 + 14 1351 c.1351G>A c.(1351-1353)Gag>Aag p.E451K INPP5D_ENST00000538935.1_Missense_Mutation_p.E450K|INPP5D_ENST00000450745.1_Missense_Mutation_p.E215K|INPP5D_ENST00000455936.2_Missense_Mutation_p.E215K Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 463 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GGAGTGGCTGGAGATCCTCAA 0.557000 44 30 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56170920 56170920 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:56170920C>T ENST00000399503.3 + 10 1748 c.1748C>T c.(1747-1749)gCc>gTc p.A583V NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 583 cellular response to mechanical stimulus|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 ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AGAGAGATGGCCCTCAGGCGT 0.498000 31 71 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31736926 31736926 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:31736926C>T ENST00000375686.3 - 10 1609 c.1372G>A c.(1372-1374)Gag>Aag p.E458K VWA7_ENST00000375688.4_Missense_Mutation_p.E458K|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.E458K NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 458 extracellular region GACAAGATCTCACGCCGAGCT 0.542000 73 323 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34962010 34962010 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:34962010G>A ENST00000329357.5 + 1 1098 c.1062G>A c.(1060-1062)gaG>gaA p.E354E NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 354 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TGGATTCTGAGAAGAAGCTGG 0.557000 21 13 0 0 1 0 0 KLF3 51274 broad.mit.edu 37 4 38682284 38682284 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:38682284C>T ENST00000261438.5 + 2 343 c.38C>T c.(37-39)gCc>gTc p.A13V KLF3_ENST00000514033.1_Missense_Mutation_p.A13V NM_016531.5 NP_057615.3 P57682 KLF3_HUMAN Kruppel-like factor 3 (basic) 13 Pro-rich.|Repressor domain. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 18 AAGCAAGAGGCCATGGACCCT 0.403000 30 81 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76831883 76831883 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:76831883C>T ENST00000278559.3 + 10 1604 c.1415C>T c.(1414-1416)cCc>cTc p.P472L CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.P472L|CAPN5_ENST00000456580.2_Missense_Mutation_p.P512L NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 472 Domain III. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 GTCATCATCCCCACAACCTTC 0.622000 34 127 0 0 1 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77322884 77322884 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:77322884C>T ENST00000558012.1 + 9 1093 c.604C>T c.(604-606)Cgg>Tgg p.R202W PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.R202W|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.R202W|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.R201W NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 202 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity p.R202W(2) breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GGAGAAGGTCCGGGCTGAGTG 0.642000 11 28 0 0 1 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136315052 136315052 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:136315052C>T ENST00000371929.3 + 23 3454 c.3010C>T c.(3010-3012)Cag>Tag p.Q1004* ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Nonsense_Mutation_p.Q1004*|ADAMTS13_ENST00000356589.2_Nonsense_Mutation_p.Q973*|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR NM_139025.3|NM_139027.3 NP_620594.1|NP_620596.2 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 13 1004 TSP type-1 6. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) CCCGGAACCCCAGGAGGCCTG 0.677000 10 14 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57088068 57088068 + Silent SNP G G A rs150087591 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:57088068G>A ENST00000532437.1 - 2 524 c.213C>T c.(211-213)ccC>ccT p.P71P TNKS1BP1_ENST00000358252.3_Silent_p.P71P Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 71 Arg/Glu/Lys/Pro-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) ACTCAGCCAGGGGACCCCGGG 0.682000 11 16 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77409626 77409626 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:77409626G>A ENST00000308488.6 - 7 2923 c.2621C>T c.(2620-2622)tCa>tTa p.S874L RSF1_ENST00000360355.2_Missense_Mutation_p.S843L|RSF1_ENST00000480887.1_Missense_Mutation_p.S622L Q96T23 RSF1_HUMAN remodeling and spacing factor 1 874 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CTCCTCTTCTGAAGCTGCAGA 0.453000 42 60 0 0 1 0 0 TRMT1 55621 broad.mit.edu 37 19 13220226 13220226 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:13220226G>A ENST00000592062.1 - 13 1936 c.1366C>T c.(1366-1368)Cac>Tac p.H456Y TRMT1_ENST00000437766.1_Missense_Mutation_p.H456Y|TRMT1_ENST00000221504.8_Missense_Mutation_p.H427Y|TRMT1_ENST00000357720.4_Missense_Mutation_p.H456Y Q9NXH9 TRM1_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae) 456 RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GBM - Glioblastoma multiforme(1328;0.0356) GTGTTGCAGTGGATGGTGCTG 0.637000 28 58 0 0 1 0 0 KCNV1 27012 broad.mit.edu 37 8 110984751 110984751 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:110984751C>T ENST00000524391.1 - 3 1759 c.727G>A c.(727-729)Gaa>Aaa p.E243K KCNV1_ENST00000297404.1_Missense_Mutation_p.E243K Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 243 voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) TCCAGGATTTCCAGCAGCTGC 0.527000 22 55 0 0 1 0 0 AP1G1 164 broad.mit.edu 37 16 71803557 71803557 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:71803557C>T ENST00000299980.4 - 6 1052 c.611G>A c.(610-612)cGa>cAa p.R204Q AP1G1_ENST00000393512.3_Missense_Mutation_p.R204Q|AP1G1_ENST00000433195.2_Missense_Mutation_p.R227Q|AP1G1_ENST00000569748.1_Missense_Mutation_p.R204Q|AP1G1_ENST00000423132.2_Missense_Mutation_p.R204Q NM_001128.5 NP_001119.3 O43747 AP1G1_HUMAN adaptor-related protein complex 1, gamma 1 subunit 204 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome kinesin binding|protein transporter activity breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1) 28 Ovarian(137;0.125) GTCTGGGCTTCGCTCACACAT 0.383000 26 34 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56559230 56559230 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:56559230G>A ENST00000394023.3 - 27 3209 c.3104C>T c.(3103-3105)cCa>cTa p.P1035L SMARCC2_ENST00000347471.4_Missense_Mutation_p.P1035L|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P1035L|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P1004L NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1004 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) CAAACTTCCTGGAGGGGCCCC 0.667000 14 32 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5860075 5860075 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:5860075G>A ENST00000546188.1 - 11 1179 c.1108C>T c.(1108-1110)Ctc>Ttc p.L370F ANO2_ENST00000356134.5_Missense_Mutation_p.L370F|ANO2_ENST00000327087.8_Missense_Mutation_p.L369F Q9NQ90 ANO2_HUMAN anoctamin 2 374 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GATGGGATGAGGAATGATGTA 0.333000 9 14 0 0 1 0 0 FRK 2444 broad.mit.edu 37 6 116264264 116264264 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:116264264T>C ENST00000606080.1 - 7 1671 c.1225A>G c.(1225-1227)Aaa>Gaa p.K409E FRK_ENST00000538210.1_Missense_Mutation_p.K267E NM_002031.2 NP_002022.1 P42685 FRK_HUMAN fyn-related kinase 409 Protein kinase. negative regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1) 27 all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465) all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625) ATGCTGAATTTATTACTACGA 0.373000 6 15 0 0 1 0 0 ARHGAP19 84986 broad.mit.edu 37 10 98985884 98985884 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:98985884G>A ENST00000358531.4 - 12 1508 c.1480C>T c.(1480-1482)Ctc>Ttc p.L494F ARHGAP19_ENST00000487035.1_5'UTR|ARHGAP19-SLIT1_ENST00000453547.2_Intron|ARHGAP19_ENST00000355366.5_Intron|ARHGAP19_ENST00000371027.1_Missense_Mutation_p.L485F|ARHGAP19-SLIT1_ENST00000316676.8_Intron NM_001204300.1|NM_032900.5 NP_001191229.1|NP_116289.4 Q14CB8 RHG19_HUMAN Rho GTPase activating protein 19 494 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|nucleus GTPase activator activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|urinary_tract(1) 13 Colorectal(252;0.0854) Epithelial(162;7.65e-09)|all cancers(201;4.49e-07) ATCCTTCAGAGAAATCCTAGG 0.413000 7 18 0 0 1 0 0 PITPNM3 83394 broad.mit.edu 37 17 6387564 6387564 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:6387564C>T ENST00000262483.8 - 5 410 c.323G>A c.(322-324)gGa>gAa p.G108E ACKR6_ENST00000421306.3_Missense_Mutation_p.G72E NM_031220.3 NP_112497.2 CTCGATGCTTCCCTGGGCTGG 0.572000 36 86 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154513650 154513650 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:154513650C>T ENST00000409959.3 + 18 1885 c.1836C>T c.(1834-1836)aaC>aaT p.N612N KIAA0922_ENST00000440693.1_Intron|KIAA0922_ENST00000409663.3_Silent_p.N611N NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 611 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) TGGTGCAGAACCCGTCCTCTT 0.507000 17 37 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201499624 201499624 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:201499624C>T ENST00000374700.2 + 21 2573 c.2332C>T c.(2332-2334)Ccc>Tcc p.P778S AOX1_ENST00000485106.1_3'UTR NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 778 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) CACACAGTTTCCCAAATATAT 0.408000 53 25 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3730690 3730690 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:3730690G>A ENST00000541714.2 + 5 1061 c.599G>A c.(598-600)aGg>aAg p.R200K TJP3_ENST00000262968.9_Missense_Mutation_p.R219K|TJP3_ENST00000539908.2_Missense_Mutation_p.R164K|TJP3_ENST00000382008.3_Missense_Mutation_p.R200K|TJP3_ENST00000587686.1_Missense_Mutation_p.R219K|TJP3_ENST00000589378.1_Missense_Mutation_p.R209K NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 200 PDZ 2. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) CTGGTGAAGAGGAGAGACAGC 0.612000 13 38 0 0 1 0 0 MEN1 4221 broad.mit.edu 37 11 64573727 64573727 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:64573727C>T ENST00000337652.1 - 7 1544 c.1041G>A c.(1039-1041)gcG>gcA p.A347A MEN1_ENST00000377321.1_Silent_p.A307A|MEN1_ENST00000377313.1_Silent_p.A347A|MEN1_ENST00000377316.2_Silent_p.A342A|MEN1_ENST00000377326.3_Silent_p.A342A|MEN1_ENST00000315422.4_Silent_p.A342A|MEN1_ENST00000312049.6_Silent_p.A342A|MEN1_ENST00000443283.1_Silent_p.A347A|MEN1_ENST00000394374.2_Silent_p.A347A|MEN1_ENST00000394376.1_Silent_p.A347A|MEN1_ENST00000478548.1_5'UTR NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 347 Interaction with FANCD2. A -> P (in MEN1). DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 TGGCCGTGTCCGCCCAGGCCT 0.597000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated OREG0004014 type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 22 49 0 0 1 0 0 RPGRIP1 57096 broad.mit.edu 37 14 21796666 21796666 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:21796666G>A ENST00000206660.6 + 18 2979 c.2979G>A c.(2977-2979)aaG>aaA p.K993K RPGRIP1_ENST00000557771.1_Silent_p.K955K|RPGRIP1_ENST00000556336.1_Silent_p.K650K|RPGRIP1_ENST00000307974.4_Silent_p.K352K|RPGRIP1_ENST00000400017.2_Silent_p.K993K|RPGRIP1_ENST00000382933.4_Silent_p.K319K Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator interacting protein 1 993 Interaction with RPGR. response to stimulus|visual perception cilium breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1) 39 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GAGAAAGAAAGGAGAAGGAGC 0.433000 11 44 0 0 1 0 0 KDM4C 23081 broad.mit.edu 37 9 6984370 6984370 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:6984370G>A ENST00000381309.3 + 10 1885 c.1320G>A c.(1318-1320)gtG>gtA p.V440V KDM4C_ENST00000428870.2_Silent_p.V127V|KDM4C_ENST00000535193.1_Silent_p.V462V|KDM4C_ENST00000442236.2_Silent_p.V259V|KDM4C_ENST00000543771.1_Silent_p.V440V|KDM4C_ENST00000536108.1_Silent_p.V259V|KDM4C_ENST00000381306.3_Silent_p.V440V NM_015061.3 NP_055876.2 Q9H3R0 KDM4C_HUMAN lysine (K)-specific demethylase 4C 440 positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent nuclear chromatin androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 43 GGATGCAGGTGGAGCAGAATT 0.418000 19 49 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538333 55538333 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:55538333G>A ENST00000220676.1 + 4 2039 c.1891G>A c.(1891-1893)Gct>Act p.A631T NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 631 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGAGGCTCCAGCTTCAGAAGC 0.358000 17 34 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285719 48285719 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:48285719C>T ENST00000320048.1 + 1 307 c.307C>T c.(307-309)Cat>Tat p.H103Y NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 GTTTTCCCTCCATTTCTTTGG 0.498000 17 30 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204216589 204216589 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:204216589C>T ENST00000272203.3 - 13 2141 c.e13-1 PLEKHA6_ENST00000414478.1_Splice_Site NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TTGTCAGGGCCTACGGGGGAA 0.567000 5 15 0 0 1 0 0 WWC1 23286 broad.mit.edu 37 5 167850706 167850706 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:167850706G>A ENST00000265293.4 + 11 1945 c.1443G>A c.(1441-1443)gtG>gtA p.V481V WWC1_ENST00000521089.1_Silent_p.V481V NM_001161661.1|NM_001161662.1|NM_015238.2 NP_001155133.1|NP_001155134.1|NP_056053.1 Q8IX03 KIBRA_HUMAN WW and C2 domain containing 1 481 cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perinuclear region of cytoplasm|ruffle membrane protein binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4) 43 Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0399)|all_neural(177;0.0577) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918) AGAGCAAGGTGGAGTTCCTGC 0.617000 14 70 0 0 1 0 0 BANK1 55024 broad.mit.edu 37 4 102994868 102994868 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:102994868G>A ENST00000504592.1 + 20 2699 c.2281G>A c.(2281-2283)Gaa>Aaa p.E761K BANK1_ENST00000444316.2_Missense_Mutation_p.E746K|BANK1_ENST00000322953.4_Missense_Mutation_p.E776K|BANK1_ENST00000428908.1_Missense_Mutation_p.E643K|BANK1_ENST00000508653.1_Missense_Mutation_p.E643K Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 776 B cell activation NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1) 44 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) AGTTGAAAAGGAATTTGGTTT 0.328000 13 55 0 0 1 0 0 OR52N2 390077 broad.mit.edu 37 11 5841772 5841772 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:5841772C>T ENST00000317037.2 + 1 229 c.207C>T c.(205-207)tcC>tcT p.S69S TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor, family 52, subfamily N, member 2 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1) 32 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCTGCTCTCCTTCACTGATG 0.537000 46 101 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13916510 13916510 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:13916510G>A ENST00000285018.4 - 2 536 c.232C>T c.(232-234)Cgc>Tgc p.R78C WNT7A_ENST00000497808.1_5'UTR NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 78 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 CGGCCATTGCGGAACTGAAAC 0.607000 9 38 0 0 1 0 0 EFCAB12 90288 broad.mit.edu 37 3 129137115 129137115 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:129137115G>A ENST00000505956.1 - 3 825 c.663C>T c.(661-663)ttC>ttT p.F221F EFCAB12_ENST00000326085.3_Silent_p.F221F NM_207307.1 NP_997190.1 EF-hand calcium binding domain 12 CAGCCGCGATGAACTCCTCCC 0.557000 8 19 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303687 151303687 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:151303687C>T ENST00000370323.4 - 4 722 c.406G>A c.(406-408)Gaa>Aaa p.E136K MAGEA10_ENST00000244096.3_Missense_Mutation_p.E136K|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 136 MAGE. endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GTCACCTTTTCATCTATCTCA 0.453000 52 28 0 0 1 0 0 HERC3 8916 broad.mit.edu 37 4 89574082 89574082 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:89574082C>T ENST00000402738.1 + 6 765 c.526C>T c.(526-528)Ccc>Tcc p.P176S HERC3_ENST00000407637.1_Missense_Mutation_p.P176S|HERC3_ENST00000264345.3_Missense_Mutation_p.P176S NM_001271602.1|NM_014606.1 NP_001258531.1|NP_055421.1 Q15034 HERC3_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 3 176 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2) 45 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GAAGGAGTTCCCCTCCCAAGC 0.562000 10 25 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712557 70712557 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:70712557C>T ENST00000530196.1 - 0 1961 NR_003951.1 TACCATCTTTCACTGCACCAA 0.448000 13 29 0 0 1 0 0 GIMAP5 55340 broad.mit.edu 37 7 150439756 150439756 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:150439756G>A ENST00000358647.3 + 3 896 c.529G>A c.(529-531)Gtg>Atg p.V177M GIMAP5_ENST00000479556.1_3'UTR NM_018384.4 NP_060854.2 GTPase, IMAP family member 5 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAAAGACCTGGTGCGGGAGTG 0.567000 45 82 0 0 1 0 0 ENO3 2027 broad.mit.edu 37 17 4856149 4856149 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:4856149C>T ENST00000323997.6 + 3 277 c.145C>T c.(145-147)Cta>Tta p.L49L ENO3_ENST00000518175.1_Silent_p.L49L|ENO3_ENST00000519584.1_Silent_p.L49L NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 49 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 GGCTCTGGAACTAAGAGACGG 0.597000 4 17 0 0 1 0 0 SNORD115-43 100033817 broad.mit.edu 37 15 25494378 25494378 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:25494378G>A ENST00000365503.1 + 0 34 NR_003303.1|NR_003344.1|NR_003351.1|NR_003358.1 TTGTCCTGAAGAGAGGTGATG 0.512000 57 205 0 0 1 0 0 VWA7 80737 broad.mit.edu 37 6 31733693 31733693 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:31733693G>A ENST00000375686.3 - 16 2703 c.2466C>T c.(2464-2466)ttC>ttT p.F822F VWA7_ENST00000375688.4_Silent_p.F822F NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 822 extracellular region GGAGCCGGAGGAAAGCATGAG 0.617000 73 322 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142641814 142641814 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142641814G>A ENST00000355265.2 - 12 1803 c.1329C>T c.(1327-1329)ttC>ttT p.F443F NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 443 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GGATCGCAGTGAATAATTTCA 0.592000 9 29 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64691225 64691225 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:64691225A>G ENST00000357395.3 + 114 20659 c.9515A>G c.(9514-9516)gAc>gGc p.D3172G SYNE2_ENST00000394768.2_Missense_Mutation_p.D3172G|SYNE2_ENST00000358025.3_Missense_Mutation_p.D6810G|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.D6787G|SYNE2_ENST00000554584.1_Missense_Mutation_p.D6703G|SYNE2_ENST00000555022.1_Missense_Mutation_p.D665G|SYNE2_ENST00000555002.1_Missense_Mutation_p.D3444G|SYNE2_ENST00000441438.2_Missense_Mutation_p.D332G|SYNE2_ENST00000458046.2_Missense_Mutation_p.D458G|SYNE2_ENST00000554805.1_Missense_Mutation_p.D570G Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6787 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) GACTCGGGGGACCAGCCTCCT 0.507000 27 62 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34797731 34797731 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:34797731G>A ENST00000338074.2 + 15 2151 c.1990G>A c.(1990-1992)Ggg>Agg p.G664R EPB41L1_ENST00000202028.5_Missense_Mutation_p.G590R|EPB41L1_ENST00000441639.1_Missense_Mutation_p.G590R|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000373941.1_Missense_Mutation_p.G664R|EPB41L1_ENST00000373950.2_Missense_Mutation_p.G555R|EPB41L1_ENST00000373946.3_Intron NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 664 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) TCTCAACAAGGGGGCCCCCAG 0.637000 18 45 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79166162 79166162 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:79166162C>T ENST00000269392.4 - 21 2834 c.2587G>A c.(2587-2589)Gag>Aag p.E863K AZI1_ENST00000575907.1_Missense_Mutation_p.E827K|AZI1_ENST00000374782.3_Missense_Mutation_p.E824K|AZI1_ENST00000450824.2_Missense_Mutation_p.E860K NM_014984.2 NP_055799.2 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 863 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CTCTCCAGCTCCAGCTGCTGC 0.716000 5 16 0 0 1 0 0 TMPRSS3 64699 broad.mit.edu 37 21 43809050 43809050 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:43809050C>T ENST00000291532.3 - 4 1265 c.310G>A c.(310-312)Gag>Aag p.E104K TMPRSS3_ENST00000398405.1_Missense_Mutation_p.E102K|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.E104K|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.E188K|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.E104K|TMPRSS3_ENST00000474596.1_5'UTR NM_032404.2 NP_115780.1 P57727 TMPS3_HUMAN transmembrane protease, serine 3 104 LDL-receptor class A. cellular sodium ion homeostasis|proteolysis endoplasmic reticulum membrane|integral to membrane scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1) 13 CAGCGGTACTCGTCCTCCCCG 0.532000 16 46 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54926178 54926178 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:54926178G>A ENST00000284061.3 + 6 1190 c.1010G>A c.(1009-1011)cGa>cAa p.R337Q NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 337 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding p.R337Q(1) breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) CAGGTTTTGCGAAATGTAATG 0.408000 56 35 0 0 1 0 0 NEK10 152110 broad.mit.edu 37 3 27216230 27216230 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:27216230C>T ENST00000429845.2 - 28 2962 c.2600G>A c.(2599-2601)gGc>gAc p.G867D NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000295720.6_Missense_Mutation_p.G179D|NEK10_ENST00000383771.4_Missense_Mutation_p.G179D|NEK10_ENST00000383770.3_Missense_Mutation_p.G179D|NEK10_ENST00000357467.2_Missense_Mutation_p.G264D Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 867 ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGCCTGGAAGCCTTCAGGGGG 0.502000 37 105 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95172282 95172282 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:95172282G>A ENST00000027335.3 - 12 1592 c.1468C>T c.(1468-1470)Cat>Tat p.H490Y CDH17_ENST00000441892.2_Missense_Mutation_p.H276Y|CDH17_ENST00000450165.2_Missense_Mutation_p.H490Y NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 490 Cadherin 5. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) TTTATGATATGATACAGAATT 0.443000 17 60 0 0 1 0 0 CYLC2 1539 broad.mit.edu 37 9 105767634 105767634 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:105767634G>A ENST00000374798.3 + 5 791 c.721G>A c.(721-723)Gaa>Aaa p.E241K CYLC2_ENST00000487798.1_Missense_Mutation_p.E241K NM_001340.3 NP_001331.1 Q14093 CYLC2_HUMAN cylicin, basic protein of sperm head cytoskeleton 2 241 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton p.E241Q(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) AAAAGCAGATGAAAAGAAGGA 0.358000 11 43 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49434949 49434949 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:49434949G>A ENST00000301067.7 - 31 6603 c.6604C>T c.(6604-6606)Cct>Tct p.P2202S NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCCCCCGTAGGACTAGGATAG 0.701000 3 15 0 0 1 0 0 BAIAP2L1 55971 broad.mit.edu 37 7 97941458 97941458 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:97941458G>A ENST00000005260.8 - 8 973 c.758C>T c.(757-759)cCc>cTc p.P253L BAIAP2L1_ENST00000462558.1_5'UTR NM_018842.4 NP_061330.2 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 253 filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1) 23 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) TCCAGACACGGGGGTAGAGGC 0.483000 49 114 0 0 1 0 0 MRPL46 26589 broad.mit.edu 37 15 89008048 89008048 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:89008048G>A ENST00000312475.4 - 3 516 c.475C>T c.(475-477)Ctg>Ttg p.L159L NM_022163.3 NP_071446.2 Q9H2W6 RM46_HUMAN mitochondrial ribosomal protein L46 159 mitochondrion|ribosome hydrolase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) CTGACTAACAGGACAAGGTTC 0.517000 40 67 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588023 247588023 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:247588023G>A ENST00000366497.2 + 4 2058 c.1278G>A c.(1276-1278)atG>atA p.M426I NLRP3_ENST00000391827.2_Missense_Mutation_p.M426I|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.M426I|NLRP3_ENST00000348069.2_Missense_Mutation_p.M426I|NLRP3_ENST00000391828.3_Missense_Mutation_p.M426I|NLRP3_ENST00000336119.3_Missense_Mutation_p.M426I NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 426 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) AACAGCAGATGGAGAGTGGCA 0.587000 15 54 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28965101 28965101 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:28965101G>A ENST00000359747.4 + 2 80 c.51G>A c.(49-51)gtG>gtA p.V17V DSG4_ENST00000308128.4_Silent_p.V17V|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 17 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAAAACAGGTGGTGATGGAAG 0.234000 10 38 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27436456 27436456 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:27436456G>A ENST00000326799.3 - 3 458 c.310C>T c.(310-312)Cgt>Tgt p.R104C YME1L1_ENST00000477432.1_Missense_Mutation_p.R104C|YME1L1_ENST00000375972.3_Intron|YME1L1_ENST00000376016.3_Intron NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 104 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 GGTTCTGGACGGAtgtgccag 0.448000 3 16 0 0 1 0 0 SPDL1 54908 broad.mit.edu 37 5 169021419 169021419 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:169021419G>A ENST00000265295.4 + 6 982 c.703G>A c.(703-705)Gat>Aat p.D235N SPDL1_ENST00000510751.1_3'UTR NM_017785.4 NP_060255.3 spindle apparatus coiled-coil protein 1 AGCAAATCAAGATCTTCAGGT 0.363000 23 41 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394789 233394789 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:233394789G>A ENST00000258229.8 - 5 1053 c.819C>T c.(817-819)ttC>ttT p.F273F PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 273 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) CCCACGGCTGGAAAGAAACGT 0.522000 22 43 0 0 1 0 0 IFNA5 3442 broad.mit.edu 37 9 21304743 21304743 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:21304743G>A ENST00000259555.4 - 1 569 c.513C>T c.(511-513)atC>atT p.I171I NM_002169.2 NP_002160.1 P01569 IFNA5_HUMAN interferon, alpha 5 171 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AGGATCTCATGATTTCTGCTC 0.398000 49 78 0 0 1 0 0 ERCC4 2072 broad.mit.edu 37 16 14041756 14041756 + Missense_Mutation SNP C C T rs12928650 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:14041756C>T ENST00000311895.7 + 11 2312 c.2303C>T c.(2302-2304)tCt>tTt p.S768F NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 768 Interaction with EME1 and ERCC1. S -> F (in dbSNP:rs12928650). double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 AAGCCTTTCTCTCTCACTTCC 0.493000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 28 73 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453842 84453842 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:84453842C>T ENST00000377084.2 - 1 2686 c.1801G>A c.(1801-1803)Gag>Aag p.E601K NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 601 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTCCCGGTCTCCGCCAACCCA 0.572000 6 12 0 0 1 0 0 ITPKC 80271 broad.mit.edu 37 19 41245309 41245309 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:41245309C>T ENST00000263370.2 + 7 1929 c.1896C>T c.(1894-1896)gcC>gcT p.A632A NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 632 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCGGCCTGGCCAAGGTCTGGA 0.657000 12 29 0 0 1 0 0 ZNF768 79724 broad.mit.edu 37 16 30535997 30535997 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:30535997G>A ENST00000380412.5 - 2 1639 c.1464C>T c.(1462-1464)gcC>gcT p.A488A ZNF768_ENST00000562803.1_Silent_p.A457A NM_024671.3 NP_078947.3 Q9H5H4 ZN768_HUMAN zinc finger protein 768 488 A -> S (in dbSNP:rs3751848). regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 TGCCGCACACGGCGCACCTGT 0.657000 5 15 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56466945 56466945 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:56466945C>T ENST00000291971.3 + 3 1592 c.1521C>T c.(1519-1521)ctC>ctT p.L507L NLRP8_ENST00000590542.1_Silent_p.L507L NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 507 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TCTTTACCCTCGTGACTTTTC 0.463000 35 112 0 0 1 0 0 TAS2R8 50836 broad.mit.edu 37 12 10958828 10958828 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:10958828G>A ENST00000240615.2 - 1 1064 c.752C>T c.(751-753)tCt>tTt p.S251F NM_023918.1 NP_076407.1 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 251 sensory perception of taste integral to membrane taste receptor activity endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CATCAAAATAGAAGAAATATA 0.373000 12 24 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9066247 9066247 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9066247G>A ENST00000397910.4 - 3 21402 c.21199C>T c.(21199-21201)Cca>Tca p.P7067S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7069 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 TCTGAGTGTGGAAATCTCTGA 0.502000 27 67 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7580725 7580725 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:7580725G>A ENST00000379802.3 + 23 4643 c.4302G>A c.(4300-4302)aaG>aaA p.K1434K DSP_ENST00000418664.2_Intron NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1434 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AACAGCAAAAGGCCACTGGCT 0.473000 16 62 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21063027 21063027 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:21063027C>T ENST00000261383.3 - 29 4201 c.4202G>A c.(4201-4203)cGg>cAg p.R1401Q DNAH3_ENST00000415178.1_Missense_Mutation_p.R1401Q NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1401 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) GATCACCAGCCGGGGGGAGTT 0.567000 23 107 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9065535 9065535 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9065535G>A ENST00000397910.4 - 3 22114 c.21911C>T c.(21910-21912)tCc>tTc p.S7304F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7306 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S7304Y(2)|p.S2937Y(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTTGTGGTGGATATTTCTGG 0.463000 20 37 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133899415 133899415 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:133899415G>A ENST00000220616.4 + 9 1838 c.1798G>A c.(1798-1800)Gaa>Aaa p.E600K TG_ENST00000377869.1_Missense_Mutation_p.E600K NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 600 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TGATGTGATGGAAACGGTACT 0.473000 21 70 0 0 1 0 0 SOGA1 140710 broad.mit.edu 37 20 35434313 35434313 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:35434313T>C ENST00000237536.4 - 9 3203 c.2862A>G c.(2860-2862)atA>atG p.I954M SOGA1_ENST00000456801.2_Missense_Mutation_p.I557M|SOGA1_ENST00000357779.3_Missense_Mutation_p.I716M|SOGA1_ENST00000279034.5_Missense_Mutation_p.I716M NM_080627.2 NP_542194.2 O94964 K0889_HUMAN suppressor of glucose, autophagy associated 1 716 endometrium(5)|kidney(1)|lung(21)|urinary_tract(1) 28 GCTGAGCGTTTATCTCCTCTT 0.483000 9 28 0 0 1 0 0 TRMT10B 158234 broad.mit.edu 37 9 37769949 37769949 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:37769949A>G ENST00000297994.3 + 6 650 c.585A>G c.(583-585)acA>acG p.T195T TRMT10B_ENST00000377754.2_Silent_p.T100T|RP11-613M10.9_ENST00000540557.1_Intron|TRMT10B_ENST00000377753.2_Silent_p.T117T|TRMT10B_ENST00000537911.1_Silent_p.T144T NM_144964.2 NP_659401.2 tRNA methyltransferase 10 homolog B (S. cerevisiae) TAGACATAACAGAAGAAGACT 0.458000 34 85 0 0 1 0 0 F8A1 8263 broad.mit.edu 37 X 154115738 154115738 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:154115738C>T ENST00000369446.2 + 1 1104 c.1089C>T c.(1087-1089)acC>acT p.T363T F8_ENST00000360256.4_Intron NM_012151.3 NP_036283.2 coagulation factor VIII-associated 1 endometrium(1)|lung(1) 2 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGCAAGAAACCATCTCCCCCT 0.527000 45 171 0 0 1 0 0 PMS1 5378 broad.mit.edu 37 2 190719194 190719194 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:190719194C>T ENST00000441310.2 + 9 1429 c.1196C>T c.(1195-1197)tCt>tTt p.S399F PMS1_ENST00000409823.3_Missense_Mutation_p.S360F|PMS1_ENST00000447232.2_Missense_Mutation_p.S399F|PMS1_ENST00000432292.3_Missense_Mutation_p.S223F|PMS1_ENST00000418224.3_Missense_Mutation_p.S223F|PMS1_ENST00000421722.1_3'UTR NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 399 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) AATGATGAATCTGGAAAAAAC 0.299000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 42 31 0 0 1 0 0 CCNJL 79616 broad.mit.edu 37 5 159680408 159680408 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:159680408G>A ENST00000393977.3 - 7 1570 c.1285C>T c.(1285-1287)Ccc>Tcc p.P429S CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.P381S NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 429 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGCCGGTGGGGAACATGTGG 0.582000 13 34 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20493404 20493404 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:20493404C>T ENST00000504154.1 + 9 1048 c.796C>T c.(796-798)Cct>Tct p.P266S SLIT2_ENST00000273739.5_Missense_Mutation_p.P270S|SLIT2_ENST00000503837.1_Missense_Mutation_p.P270S|SLIT2_ENST00000503823.1_Missense_Mutation_p.P266S NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 266 LRRNT 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ATTTATGGCTCCTTCTTGTAG 0.408000 20 69 0 0 1 0 0 PIGR 5284 broad.mit.edu 37 1 207105085 207105085 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:207105085C>T ENST00000356495.4 - 9 2254 c.2071G>A c.(2071-2073)Gaa>Aaa p.E691K PIGR_ENST00000487208.1_5'UTR NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 691 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 GCTCCAAATTCCCTGGAGTTC 0.517000 28 89 0 0 1 0 0 NDUFAF2 91942 broad.mit.edu 37 5 60369017 60369017 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:60369017G>A ENST00000296597.5 + 2 320 c.193G>A c.(193-195)Ggg>Agg p.G65R NDUFAF2_ENST00000511107.1_Intron|NDUFAF2_ENST00000512623.1_3'UTR NM_174889.4 NP_777549.1 Q8N183 MIMIT_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 2 65 membrane|mitochondrion electron carrier activity|NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1) 6 Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237) CTATGAAGCAGGGGATATTCC 0.308000 39 90 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31201606 31201606 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:31201606C>T ENST00000254108.7 + 12 1284 c.1179C>T c.(1177-1179)ggC>ggT p.G393G FUS_ENST00000568685.1_Silent_p.G394G|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000380244.3_Silent_p.G392G NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 393 Arg/Gly-rich. cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) GACCCATGGGCCgtggaggct 0.567000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 21 47 0 0 1 0 0 CDC42 998 broad.mit.edu 37 1 22412947 22412947 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:22412947A>T ENST00000344548.3 + 5 445 c.194A>T c.(193-195)gAc>gTc p.D65V CDC42_ENST00000421089.2_Missense_Mutation_p.D107V|CDC42_ENST00000498236.1_3'UTR|CDC42_ENST00000400259.1_Missense_Mutation_p.D65V|CDC42_ENST00000315554.8_Missense_Mutation_p.D65V NM_001039802.1 NP_001034891.1 P60953 CDC42_HUMAN cell division cycle 42 65 actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) GAGGATTATGACAGATTACGA 0.378000 15 58 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142190941 142190941 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:142190941C>T ENST00000519811.1 + 17 3002 c.2932C>T c.(2932-2934)Ctc>Ttc p.L978F DENND3_ENST00000518806.1_3'UTR|DENND3_ENST00000262585.2_Missense_Mutation_p.L898F|DENND3_ENST00000424248.1_Missense_Mutation_p.L846F A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 898 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) GGACGTGCTGCTCTACACTCC 0.582000 17 54 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54913077 54913077 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:54913077G>A ENST00000474759.1 + 19 1791 c.1743G>A c.(1741-1743)ggG>ggA p.G581G CACNA2D3_ENST00000288197.5_Silent_p.G581G|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Silent_p.G487G|CACNA2D3_ENST00000415676.2_Silent_p.G581G NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 581 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) GAAAGACGGGGAAGTTTTCCA 0.368000 5 20 0 0 1 0 0 TLR3 7098 broad.mit.edu 37 4 187005018 187005018 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:187005018G>A ENST00000296795.2 + 4 2282 c.2178G>A c.(2176-2178)gaG>gaA p.E726E TLR3_ENST00000504367.1_Silent_p.E449E NM_003265.2 NP_003256.1 O15455 TLR3_HUMAN toll-like receptor 3 726 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TCCACTTTGAGGGCTGGAGGA 0.363000 49 59 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350390 100350390 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:100350390C>T ENST00000542585.1 + 0 2810 ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ACCCACCATCCCCATTGAAGA 0.502000 20 32 0 0 1 0 0 SLC12A3 6559 broad.mit.edu 37 16 56913085 56913085 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:56913085C>T ENST00000438926.2 + 10 1310 c.1281C>T c.(1279-1281)ttC>ttT p.F427F SLC12A3_ENST00000262502.5_Silent_p.F426F|SLC12A3_ENST00000563236.1_Silent_p.F427F|SLC12A3_ENST00000566786.1_Silent_p.F426F NM_000339.2|NM_001126107.1|NM_001126108.1 NP_000330.2|NP_001119579.1|NP_001119580.1 P55017 S12A3_HUMAN solute carrier family 12 (sodium/chloride transporter), member 3 427 sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) GCTGGAACTTCACCGAGTGCA 0.632000 8 9 0 0 1 0 0 IGHV7-81 28378 broad.mit.edu 37 14 107282795 107282795 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:107282795C>T ENST00000390639.2 - 0 401 TGGTGTATCTCGCACAGTAAT 0.522000 15 54 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 118042153 118042153 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:118042153C>T ENST00000356554.3 + 11 2389 c.1654C>T c.(1654-1656)Cag>Tag p.Q552* NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 552 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) AAGATACAGGCAGTGGGGCTG 0.468000 14 46 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14533108 14533108 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:14533108A>G ENST00000358970.5 - 5 1006 c.1007T>C c.(1006-1008)cTa>cCa p.L336P POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 336 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 CTGTCCAGATAGATCTTGAGA 0.363000 34 119 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443763 5443763 + Silent SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:5443763T>C ENST00000300778.4 + 1 423 c.333T>C c.(331-333)ttT>ttC p.F111F HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATTCTCCTTTATGGAGTCTT 0.493000 38 69 0 0 1 0 0 SPEG 10290 broad.mit.edu 37 2 220333457 220333457 + Splice_Site SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:220333457T>C ENST00000312358.7 + 11 3432 c.3301_splice c.e11+1 p.F1100_splice SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1100 Ig-like 5. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GGACTCATTTTGGTACGGCCC 0.662000 16 43 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82581216 82581216 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:82581216C>T ENST00000423517.2 - 5 9390 c.9053G>A c.(9052-9054)gGa>gAa p.G3018E PCLO_ENST00000333891.8_Missense_Mutation_p.G3018E NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2949 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 TGTGTCAGTTCCTTCAGAATA 0.403000 24 70 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9453439 9453439 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:9453439G>A ENST00000378501.2 + 33 3332 c.3317G>A c.(3316-3318)cGa>cAa p.R1106Q PLCB4_ENST00000278655.4_Missense_Mutation_p.R1106Q|PLCB4_ENST00000378473.3_Missense_Mutation_p.R1118Q|PLCB4_ENST00000414679.2_Missense_Mutation_p.R1118Q|PLCB4_ENST00000378493.1_Missense_Mutation_p.R1106Q|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.R1106Q NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 1106 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 GCTTTTAGGCGAGTCAGGGAG 0.303000 23 32 0 0 1 0 0 PIWIL4 143689 broad.mit.edu 37 11 94341757 94341757 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:94341757C>T ENST00000299001.6 + 15 2059 c.1848C>T c.(1846-1848)tcC>tcT p.S616S RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA NM_152431.2 NP_689644.2 Q7Z3Z4 PIWL4_HUMAN piwi-like RNA-mediated gene silencing 4 616 Piwi. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2) 30 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) AGTTAAAGTCCCTGATGGTGG 0.403000 29 65 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76423412 76423412 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:76423412C>T ENST00000357063.3 + 28 5764 c.4504C>T c.(4504-4506)Cct>Tct p.P1502S LMO7_ENST00000377534.3_Missense_Mutation_p.P1502S|LMO7_ENST00000321797.8_Missense_Mutation_p.P1217S|LMO7_ENST00000526202.1_Missense_Mutation_p.P1094S|LMO7_ENST00000465261.2_Missense_Mutation_p.P1217S|LMO7_ENST00000341547.4_Missense_Mutation_p.P1168S Q8WWI1 LMO7_HUMAN LIM domain 7 1502 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TGTTAGTCTTCCTGGGATCAT 0.453000 12 35 0 0 1 0 0 CHPF 79586 broad.mit.edu 37 2 220406443 220406443 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:220406443G>A ENST00000243776.6 - 2 1031 c.783C>T c.(781-783)ccC>ccT p.P261P CHPF_ENST00000373891.2_Silent_p.P261P|CHPF_ENST00000535926.1_Silent_p.P99P NM_024536.5 NP_078812.2 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 261 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) CTTCCAGGTGGGGGCGCAGTT 0.687000 OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 11 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175332903 175332903 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:175332903G>A ENST00000367674.1 - 13 3356 c.2648C>T c.(2647-2649)tCc>tTc p.S883F TNR_ENST00000263525.2_Missense_Mutation_p.S883F NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 883 Fibronectin type-III 7. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGGGCTCCAGGAGACCATCAC 0.438000 22 42 0 0 1 0 0 ZNF280D 54816 broad.mit.edu 37 15 56996359 56996359 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:56996359G>A ENST00000559237.1 - 3 779 c.96C>T c.(94-96)atC>atT p.I32I ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Silent_p.I32I|ZNF280D_ENST00000267807.7_Silent_p.I45I|ZNF280D_ENST00000558320.1_Silent_p.I45I NM_001002843.1 NP_001002843.1 Q6N043 Z280D_HUMAN zinc finger protein 280D 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) CGCCAACAAAGATTGGCTCAT 0.358000 9 12 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255703 140255703 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140255703G>A ENST00000398631.2 + 1 646 c.646G>A c.(646-648)Gat>Aat p.D216N PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATGGTAATCGATGGCGGTAA 0.393000 11 52 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95081333 95081333 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:95081333G>A ENST00000553947.1 + 5 1518 c.630G>A c.(628-630)aaG>aaA p.K210K SERPINA3_ENST00000393078.3_Silent_p.K185K|SERPINA3_ENST00000556388.1_Intron|SERPINA3_ENST00000393080.4_Silent_p.K185K|SERPINA3_ENST00000467132.1_Silent_p.K185K P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 185 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) ACTACGTGAAGAATGGAACTA 0.493000 28 64 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2376264 2376264 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:2376264G>A ENST00000301732.5 - 5 766 c.66C>T c.(64-66)gtC>gtT p.V22V ABCA3_ENST00000382381.3_Silent_p.V22V|ABCA3_ENST00000567910.1_Silent_p.V22V NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 22 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) CCGTCACCAGGACCTTCCGCT 0.567000 21 45 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 3 25 6.4e-05 6.45328e-05 1 1 0 ARHGEF15 22899 broad.mit.edu 37 17 8215590 8215590 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:8215590C>T ENST00000361926.3 + 2 343 c.233C>T c.(232-234)cCc>cTc p.P78L ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P78L NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 78 Pro-rich. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CTTTTGCCCCCCTCAGCTTCT 0.622000 34 48 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47427753 47427753 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:47427753G>A ENST00000295454.3 + 9 1435 c.1143G>A c.(1141-1143)tcG>tcA p.S381S GABRB1_ENST00000538619.1_Silent_p.S311S NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 381 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 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CGAGTGGCTCGGAAGTGCTCA 0.597000 20 61 0 0 1 0 0 RGAG1 57529 broad.mit.edu 37 X 109697734 109697734 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:109697734C>T ENST00000465301.2 + 3 4135 c.3889C>T c.(3889-3891)Cta>Tta p.L1297L RGAG1_ENST00000540313.1_Silent_p.L1297L NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1297 NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 GGCTGGCAGCCTAAAGGAGCT 0.532000 38 26 0 0 1 0 0 HSPA6 3310 broad.mit.edu 37 1 161495659 161495659 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:161495659G>A ENST00000309758.4 + 1 1624 c.1211G>A c.(1210-1212)gGg>gAg p.G404E NM_002155.3 NP_002146.2 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 404 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CTGTCTCTGGGGCTGGAGACA 0.602000 5 32 0 0 1 0 0 DENND1A 57706 broad.mit.edu 37 9 126143867 126143867 + Silent SNP C C G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:126143867C>G ENST00000373624.2 - 22 3075 c.2874G>C c.(2872-2874)ctG>ctC p.L958L DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Silent_p.L743L|DENND1A_ENST00000394219.3_Silent_p.L969L NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 958 Pro-rich. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 GTGTTGGCTCCAGGCCTTGAG 0.652000 8 33 0 0 1 0 0 YBX2 51087 broad.mit.edu 37 17 7193751 7193751 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:7193751G>A ENST00000007699.5 - 5 626 c.563C>T c.(562-564)cCc>cTc p.P188L YBX2_ENST00000570627.1_5'UTR NM_015982.3 NP_057066.2 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 188 Pro-rich. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3) 12 GGCAACTGAGGGAGGCCGGGG 0.652000 27 66 0 0 1 0 0 AKR1B15 441282 broad.mit.edu 37 7 134261147 134261147 + Missense_Mutation SNP G G C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:134261147G>C ENST00000457545.2 + 9 1050 c.790G>C c.(790-792)Gag>Cag p.E264Q AKR1B15_ENST00000423958.1_Missense_Mutation_p.E236Q NM_001080538.2 NP_001074007.2 C9JRZ8 AK1BF_HUMAN aldo-keto reductase family 1, member B15 264 oxidoreductase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1) 18 CAAGATTAAGGAGATTGCTGC 0.448000 8 31 0 0 1 0 0 OCIAD1 54940 broad.mit.edu 37 4 48852045 48852045 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:48852045C>T ENST00000425583.2 + 6 598 c.323C>T c.(322-324)tCc>tTc p.S108F OCIAD1_ENST00000444354.2_Missense_Mutation_p.S108F|OCIAD1_ENST00000509122.1_Missense_Mutation_p.S81F|OCIAD1_ENST00000506801.1_Missense_Mutation_p.S54F|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Missense_Mutation_p.S108F|OCIAD1_ENST00000381473.3_Missense_Mutation_p.S108F|OCIAD1_ENST00000513391.2_Missense_Mutation_p.S108F|OCIAD1_ENST00000396448.2_Missense_Mutation_p.S108F|OCIAD1_ENST00000264312.7_Missense_Mutation_p.S108F NM_001079842.2 NP_001073311.2 Q9NX40 OCAD1_HUMAN OCIA domain containing 1 108 OCIA. endosome protein binding breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2) 9 CTTGAAAATTCCCCCCTTGGA 0.363000 14 45 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35547173 35547173 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:35547173G>A ENST00000455600.1 + 2 1224 c.655G>A c.(655-657)Gat>Aat p.D219N RUSC2_ENST00000468041.1_3'UTR NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 219 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) TGGAGCCAGCGATACCTCTGG 0.617000 13 62 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751458 140751458 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140751458G>A ENST00000576222.1 + 1 1628 c.1497G>A c.(1495-1497)cgG>cgA p.R499R PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGCCGCGGGAGCTGTCGT 0.652000 27 55 0 0 1 0 0 WDR31 114987 broad.mit.edu 37 9 116085403 116085403 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:116085403G>A ENST00000374193.4 - 6 603 c.357C>T c.(355-357)ttC>ttT p.F119F WDR31_ENST00000374195.3_5'UTR|WDR31_ENST00000341761.4_Silent_p.F118F|WDR31_ENST00000461942.1_5'UTR NM_001012361.2|NM_145241.3 NP_001012361.1|NP_660284.1 Q8NA23 WDR31_HUMAN WD repeat domain 31 119 NS(1)|large_intestine(1)|lung(2)|prostate(2) 6 GAGAGGCACTGAAGAACTGGC 0.498000 15 35 0 0 1 0 0 MPRIP 23164 broad.mit.edu 37 17 17062058 17062058 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:17062058C>T ENST00000395811.5 + 14 1877 c.1788C>T c.(1786-1788)ttC>ttT p.F596F MPRIP_ENST00000395804.3_Silent_p.F596F|MPRIP_ENST00000444976.1_Silent_p.F558F|MPRIP_ENST00000341712.4_Silent_p.F596F NM_015134.3|NM_201274.3 NP_055949.2|NP_958431.2 Q6WCQ1 MPRIP_HUMAN myosin phosphatase Rho interacting protein 596 Interaction with RHOA. cytoplasm|cytoskeleton actin binding p.R587_G597delRRREERRKRFG(1) biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 GCAAGCGCTTCGGGATGCTCG 0.711000 10 24 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48221123 48221123 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:48221123G>A ENST00000394747.1 - 20 3271 c.2922C>T c.(2920-2922)ttC>ttT p.F974F ABCC11_ENST00000537808.1_3'UTR|ABCC11_ENST00000353782.5_Silent_p.F974F|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.F974F|ABCC11_ENST00000356608.2_Silent_p.F974F NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 974 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TATAATAAATGAAGCAAATAA 0.483000 21 23 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39882213 39882213 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:39882213C>T ENST00000260356.5 + 13 2299 c.2134C>T c.(2134-2136)Cac>Tac p.H712Y NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 712 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) TGCGACTTACCACTGCAAAAA 0.512000 3 9 0 0 1 0 0 KIF23 9493 broad.mit.edu 37 15 69732812 69732812 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:69732812C>T ENST00000260363.4 + 17 2170 c.2053C>T c.(2053-2055)Cca>Tca p.P685S KIF23_ENST00000395392.2_Missense_Mutation_p.P685S|KIF23_ENST00000352331.4_Missense_Mutation_p.P685S|KIF23_ENST00000537891.1_Missense_Mutation_p.P502S|KIF23_ENST00000558585.1_Missense_Mutation_p.P502S|KIF23_ENST00000559279.1_Missense_Mutation_p.P685S NM_138555.2 NP_612565.1 Q02241 KIF23_HUMAN kinesin family member 23 685 blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1) 21 ATCTGTTTCTCCATCACCTGT 0.373000 8 22 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186304547 186304547 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:186304547G>A ENST00000367478.3 - 34 5130 c.4834C>T c.(4834-4836)Cgc>Tgc p.R1612C NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein 1612 carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CTTTCCAAGCGACTAATTCGA 0.428000 T NTRK1 papillary thyroid 33 69 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48577174 48577174 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:48577174G>A ENST00000358350.4 - 25 3410 c.2806C>T c.(2806-2808)Ctt>Ttt p.L936F FRYL_ENST00000503238.1_Missense_Mutation_p.L936F|FRYL_ENST00000507711.1_Missense_Mutation_p.L936F|FRYL_ENST00000537810.1_Missense_Mutation_p.L936F|FRYL_ENST00000264319.7_5'UTR NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 936 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 CCTAGAACAAGGGATTCTGTG 0.393000 16 44 0 0 1 0 0 LRRC15 131578 broad.mit.edu 37 3 194080534 194080534 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:194080534C>T ENST00000347624.3 - 2 1324 c.1239G>A c.(1237-1239)ggG>ggA p.G413G LRRC15_ENST00000439944.2_Silent_p.G419G|LRRC15_ENST00000428839.1_Silent_p.G419G NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 413 integral to membrane biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 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;4.94e-05) CACACAGTTTCCCCAGGTGAT 0.567000 4 26 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69262882 69262882 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:69262882C>T ENST00000408913.2 - 1 308 c.130G>A c.(130-132)Gac>Aac p.D44N Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 298 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) TGGAGCGCGTCCCTTCGTGGG 0.667000 14 36 0 0 1 0 0 CASK 8573 broad.mit.edu 37 X 41646435 41646435 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:41646435C>T ENST00000318588.9 - 3 319 c.274G>A c.(274-276)Gaa>Aaa p.E92K CASK_ENST00000378154.1_Missense_Mutation_p.E92K|CASK_ENST00000421587.2_Missense_Mutation_p.E92K|CASK_ENST00000442742.2_Missense_Mutation_p.E92K|CASK_ENST00000378166.4_Missense_Mutation_p.E92K|CASK_ENST00000378163.1_Missense_Mutation_p.E92K|CASK_ENST00000361962.4_Missense_Mutation_p.E92K|CASK_ENST00000378158.1_Missense_Mutation_p.E92K O14936 CSKP_HUMAN calcium/calmodulin-dependent serine protein kinase (MAGUK family) 92 Protein kinase. cell adhesion actin cytoskeleton|cytoplasm|nucleus|plasma membrane ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1) 32 ACTCACAATTCGAAAACCATG 0.358000 24 12 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155098652 155098652 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:155098652C>T ENST00000392825.3 + 5 988 c.421C>T c.(421-423)Cgt>Tgt p.R141C GALNT13_ENST00000409237.1_Missense_Mutation_p.R141C NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 141 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 TGTGATAAATCGTTCCCCACA 0.373000 25 18 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141115615 141115615 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:141115615A>G ENST00000389484.3 - 74 12299 c.11328T>C c.(11326-11328)ccT>ccC p.P3776P NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3776 LDL-receptor class A 32. 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) GGAGATCCATAGGGATGCATT 0.408000 TSP Lung(27;0.18) 25 65 0 0 1 0 0 LRRC46 90506 broad.mit.edu 37 17 45914465 45914465 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:45914465G>A ENST00000269025.4 + 8 1308 c.945G>A c.(943-945)acG>acA p.T315T NM_033413.3 NP_219481.1 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 315 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 9 CCAAAACTACGGCCAAGAGAA 0.582000 20 65 0 0 1 0 0 UBAP2 55833 broad.mit.edu 37 9 33989090 33989090 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:33989090T>A ENST00000379238.1 - 5 440 c.323A>T c.(322-324)aAt>aTt p.N108I UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.N108I|UBAP2_ENST00000360802.1_Missense_Mutation_p.N108I|UBAP2_ENST00000418786.2_Missense_Mutation_p.N108I|UBAP2_ENST00000539807.1_Intron Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 108 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TTTTGCAAAATTCTTTTTCTT 0.388000 14 40 0 0 1 0 0 CCDC130 81576 broad.mit.edu 37 19 13873722 13873722 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:13873722C>T ENST00000586600.1 + 11 1534 c.1031C>T c.(1030-1032)cCc>cTc p.P344L CCDC130_ENST00000587019.1_3'UTR|CCDC130_ENST00000221554.8_Missense_Mutation_p.P344L P13994 CC130_HUMAN coiled-coil domain containing 130 344 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) ACTGAGACCCCCAAGTGCAGC 0.697000 12 18 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31196793 31196793 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:31196793T>A ENST00000357033.4 - 70 10422 c.10216A>T c.(10216-10218)Atg>Ttg p.M3406L DMD_ENST00000378677.2_Missense_Mutation_p.M3402L|DMD_ENST00000378680.2_Missense_Mutation_p.M338L|DMD_ENST00000343523.2_Missense_Mutation_p.M946L|DMD_ENST00000361471.4_Missense_Mutation_p.M338L|DMD_ENST00000378707.3_Missense_Mutation_p.M946L|DMD_ENST00000474231.1_Missense_Mutation_p.M946L|DMD_ENST00000541735.1_Missense_Mutation_p.M946L|DMD_ENST00000378723.3_Missense_Mutation_p.M338L|DMD_ENST00000378702.4_Missense_Mutation_p.M338L|DMD_ENST00000359836.1_Missense_Mutation_p.M946L NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 3406 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CACGTTTCCATGTTGTCCCCC 0.448000 19 47 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77255279 77255279 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:77255279C>T ENST00000388914.3 - 18 2858 c.2706G>A c.(2704-2706)agG>agA p.R902R NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 902 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 GTTTCAGGTCCCTTGTTGGAT 0.413000 32 58 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221363 140221363 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140221363C>T ENST00000531613.1 + 1 457 c.457C>T c.(457-459)Ccg>Tcg p.P153S PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P153S|PCDHA6_ENST00000527624.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCTCGGTTTCCGCTAGAGGG 0.478000 22 66 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49569593 49569593 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:49569593C>T ENST00000545947.1 + 6 2371 c.1649C>T c.(1648-1650)tCc>tTc p.S550F DAG1_ENST00000538711.1_Missense_Mutation_p.S550F|DAG1_ENST00000515359.2_Missense_Mutation_p.S550F|DAG1_ENST00000539901.1_Missense_Mutation_p.S550F|DAG1_ENST00000308775.2_Missense_Mutation_p.S550F|DAG1_ENST00000541308.1_Missense_Mutation_p.S550F NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 550 Peptidase S72. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) GGCGAGAAGTCCTGGGTACAG 0.552000 5 23 0 0 1 0 0 SULT1A2 6799 broad.mit.edu 37 16 28603445 28603445 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:28603445C>T ENST00000533150.1 - 4 1809 c.693G>A c.(691-693)tgG>tgA p.W231* SULT1A2_ENST00000395630.1_Nonsense_Mutation_p.W264*|SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.W264* P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 264 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 AGGTGGTCTTCCAGTCCCCAG 0.632000 10 38 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137531214 137531214 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:137531214G>A ENST00000424189.2 - 1 624 c.395C>T c.(394-396)tCg>tTg p.S132L DGKI_ENST00000288490.5_Missense_Mutation_p.S132L|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.S132L O75912 DGKI_HUMAN diacylglycerol kinase, iota 132 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 CTACCTGTACGAGACCTGCTT 0.687000 5 17 0 0 1 0 0 EVA1C 59271 broad.mit.edu 37 21 33867346 33867346 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:33867346C>T ENST00000300255.2 + 5 1117 c.644C>T c.(643-645)tCt>tTt p.S215F EVA1C_ENST00000382699.3_Missense_Mutation_p.S215F|EVA1C_ENST00000401402.3_Intron NM_058187.3 NP_478067.2 eva-1 homolog C (C. elegans) GATTGCTTGTCTTACTCAGCT 0.473000 20 59 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620628 7620628 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:7620628C>T ENST00000486284.1 + 8 2309 c.2035C>T c.(2035-2037)Cgg>Tgg p.R679W GRM7_ENST00000403881.1_Missense_Mutation_p.R679W|GRM7_ENST00000357716.4_Missense_Mutation_p.R679W|GRM7_ENST00000402647.2_Missense_Mutation_p.R679W|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Missense_Mutation_p.R679W NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 679 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) GAAAACAAATCGGATTTATCG 0.448000 14 45 0 0 1 0 0 CRYM-AS1 400508 broad.mit.edu 37 16 21328340 21328340 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:21328340C>T ENST00000444326.1 + 0 456 ATCACAGCTTCCTTAATTTCT 0.418000 38 100 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002026 98002026 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:98002026C>T ENST00000355273.2 + 1 295 c.295C>T c.(295-297)Ctg>Ttg p.L99L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 GATGATATCTCTGTCTGAATG 0.373000 34 105 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36874420 36874420 + Silent SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:36874420G>T ENST00000301807.6 - 21 6769 c.4872C>A c.(4870-4872)gcC>gcA p.A1624A TRANK1_ENST00000429976.2_Silent_p.A2174A|TRANK1_ENST00000428977.2_Silent_p.A1624A NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2174 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CTAAACACTTGGCTTCACAAC 0.423000 6 13 0.00116845 0.00117512 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139153511 139153511 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:139153511G>A ENST00000395297.1 - 17 3890 c.3720C>T c.(3718-3720)ctC>ctT p.L1240L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1240 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) GGAACGTGTGGAGTTTGTTGA 0.522000 HNSCC(54;0.14) 31 58 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158632730 158632730 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:158632730C>T ENST00000368148.3 - 17 2406 c.2226G>A c.(2224-2226)caG>caA p.Q742Q SPTA1_ENST00000368147.3_Silent_p.Q742Q NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 742 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) GGATATCCACCTGATCCTAAG 0.423000 14 39 0 0 1 0 0 PSTPIP1 9051 broad.mit.edu 37 15 77328215 77328215 + Missense_Mutation SNP T T G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:77328215T>G ENST00000558012.1 + 14 1547 c.1058T>G c.(1057-1059)aTa>aGa p.I353R PSTPIP1_ENST00000557995.1_3'UTR|PSTPIP1_ENST00000379595.3_Missense_Mutation_p.I350R|PSTPIP1_ENST00000559295.1_Missense_Mutation_p.I334R|PSTPIP1_ENST00000267939.5_Missense_Mutation_p.I333R NM_003978.3 NP_003969.2 O43586 PPIP1_HUMAN proline-serine-threonine phosphatase interacting protein 1 353 cell adhesion|signal transduction cleavage furrow|lamellipodium|perinuclear region of cytoplasm catalytic activity breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GTGCAGGAGATACAGGGAAAC 0.612000 3 20 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158815707 158815707 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:158815707G>A ENST00000368141.4 + 5 1162 c.901G>A c.(901-903)Gaa>Aaa p.E301K NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 301 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) CAGAATTATCGAAATAGCAAA 0.338000 20 36 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25144839 25144839 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:25144839G>A ENST00000453498.1 + 0 380 GCAAATATGGGAACTCCAATG 0.438000 10 22 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457778 15457778 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:15457778T>C ENST00000360151.4 - 8 790 c.791A>G c.(790-792)aAg>aGg p.K264R NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 GGAAGGTGTCTTGAGGCTCAG 0.522000 11 99 0 0 1 0 0 GRIN2A 2903 broad.mit.edu 37 16 9943739 9943739 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:9943739G>A ENST00000396573.2 - 6 1511 c.1202C>T c.(1201-1203)cCg>cTg p.P401L GRIN2A_ENST00000535259.1_Missense_Mutation_p.P244L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.P401L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.P401L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.P401L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.P401L NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 401 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.P401Q(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GTTGTCATCCGGCTCACAGTC 0.587000 24 55 0 0 1 0 0 GOLGA8IP 283796 broad.mit.edu 37 15 23261828 23261828 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:23261828G>A ENST00000450802.3 + 12 1038 c.940G>A c.(940-942)Gaa>Aaa p.E314K CCTGAGGAAGGAACTAGAGAG 0.577000 17 52 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509951 106509951 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:106509951G>A ENST00000359195.3 + 2 2255 c.1945G>A c.(1945-1947)Gag>Aag p.E649K PIK3CG_ENST00000440650.2_Missense_Mutation_p.E649K|PIK3CG_ENST00000496166.1_Missense_Mutation_p.E649K NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 649 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TCAgaaactggagagcttgga 0.438000 10 15 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78601051 78601051 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:78601051G>A ENST00000545128.1 + 3 839 c.301G>A c.(301-303)Gaa>Aaa p.E101K PCSK5_ENST00000376752.4_Missense_Mutation_p.E101K|PCSK5_ENST00000376767.3_Missense_Mutation_p.E101K NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 101 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TTGACAGGTGGAATGGATCCA 0.438000 17 51 0 0 1 0 0 RBM46 166863 broad.mit.edu 37 4 155720062 155720062 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:155720062G>A ENST00000510397.1 + 4 927 c.748G>A c.(748-750)Gaa>Aaa p.E250K RBM46_ENST00000514866.1_Missense_Mutation_p.E250K|RBM46_ENST00000281722.3_Missense_Mutation_p.E250K NM_001277173.1 NP_001264102.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 250 RRM 3. nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) AACTACAGAGGAAACAATTAA 0.368000 8 11 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30733200 30733200 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:30733200C>T ENST00000217315.5 + 8 1146 c.806C>T c.(805-807)tCc>tTc p.S269F TM9SF4_ENST00000398022.2_Missense_Mutation_p.S286F Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 286 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ATCATTAACTCCGTTGTTGTG 0.517000 17 37 0 0 1 0 0 SLC34A1 6569 broad.mit.edu 37 5 176813289 176813289 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:176813289C>T ENST00000324417.5 + 4 418 c.327C>T c.(325-327)acC>acT p.T109T SLC34A1_ENST00000512593.1_Silent_p.T109T NM_003052.4 NP_003043.3 Q06495 NPT2A_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 1 109 phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) 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) TGATGCTCACCTTCCTCTACC 0.642000 26 68 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 36994276 36994276 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:36994276G>A ENST00000379242.3 + 7 829 c.527G>A c.(526-528)gGg>gAg p.G176E VIT_ENST00000389975.3_Missense_Mutation_p.G176E|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.G176E|VIT_ENST00000404084.1_Missense_Mutation_p.G154E|VIT_ENST00000379241.3_Missense_Mutation_p.G176E NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 176 proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) CCTATTCCAGGGACAACTGCA 0.507000 12 24 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94546218 94546218 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:94546218C>T ENST00000370225.3 - 8 1001 c.915G>A c.(913-915)caG>caA p.Q305Q ABCA4_ENST00000535735.1_Silent_p.Q305Q NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 305 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) GACCACCATTCTGCATGAGGG 0.547000 21 52 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39438412 39438412 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:39438412G>A ENST00000280481.7 + 16 7868 c.7651_splice c.e16-1 p.G2551_splice NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2551 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTTATCATAGGCATGCTCCCC 0.408000 10 35 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216251523 216251523 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:216251523C>T ENST00000366943.2 - 27 5866 c.5480G>A c.(5479-5481)gGa>gAa p.G1827E RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.G1827E|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1827 Laminin G-like 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TGGCTGGTCTCCGGACTCCGA 0.423000 HNSCC(13;0.011) 29 91 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129120720 129120720 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:129120720C>T ENST00000249344.2 + 19 2079 c.2039C>T c.(2038-2040)tCc>tTc p.S680F STRIP2_ENST00000435494.2_Missense_Mutation_p.S680F NM_020704.2 NP_065755.1 striatin interacting protein 2 TGGAAACATTCCCGGACCATG 0.433000 22 57 0 0 1 0 0 PENK 5179 broad.mit.edu 37 8 57358459 57358459 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:57358459G>A ENST00000314922.3 - 1 130 c.54C>T c.(52-54)ctC>ctT p.L18L PENK_ENST00000451791.2_Silent_p.L18L|PENK_ENST00000518770.1_Silent_p.L18L|PENK_ENST00000523051.1_Silent_p.L18L|RP11-17A4.2_ENST00000518662.1_RNA NM_006211.3 NP_006202.1 P01210 PENK_HUMAN proenkephalin 18 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) CGGTCGCCAGGAGCCCGGGGC 0.677000 11 18 0 0 1 0 0 OR13C9 286362 broad.mit.edu 37 9 107380372 107380372 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:107380372G>A ENST00000259362.1 - 1 113 c.114C>T c.(112-114)atC>atT p.I38I NM_001001956.1 NP_001001956.1 Q8NGT0 O13C9_HUMAN olfactory receptor, family 13, subfamily C, member 9 38 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4) 22 TCCCCAGAAGGATGACCACAT 0.428000 13 65 0 0 1 0 0 OR1B1 347169 broad.mit.edu 37 9 125391017 125391017 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:125391017G>A ENST00000304833.3 - 1 835 c.798C>T c.(796-798)ttC>ttT p.F266F RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA NM_001004450.1 NP_001004450.1 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, member 1 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 AGGGAGGCTGGAAGTAGACAC 0.522000 18 51 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100929 168100929 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:168100929C>T ENST00000409195.1 + 9 3116 c.3027C>T c.(3025-3027)atC>atT p.I1009I XIRP2_ENST00000295237.9_Silent_p.I1009I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Silent_p.I787I|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 834 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AAGAAGAAATCGTAAGAGGTG 0.363000 28 21 0 0 1 0 0 NPIPA5 100288332 broad.mit.edu 37 16 15457780 15457780 + Silent SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:15457780G>T ENST00000360151.4 - 8 788 c.789C>A c.(787-789)ctC>ctA p.L263L NM_001277325.1 NP_001264254.1 nuclear pore complex interacting protein family, member A5 AAGGTGTCTTGAGGCTCAGGG 0.522000 11 96 0.0135373 0.0136005 1 1 0 ADAM2 2515 broad.mit.edu 37 8 39645692 39645692 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:39645692C>T ENST00000265708.4 - 9 824 c.721G>A c.(721-723)Gga>Aga p.G241R ADAM2_ENST00000347580.4_Missense_Mutation_p.G222R|ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.G241R NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 241 Peptidase M12B. 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) TTAGCTTCTCCAGTGGTTGCA 0.284000 19 40 0 0 1 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204375261 204375261 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:204375261C>T ENST00000367188.4 - 2 2480 c.2101G>A c.(2101-2103)Gga>Aga p.G701R RP11-739N20.2_ENST00000443515.1_RNA NM_032833.3 NP_116222.3 Q5SWA1 PR15B_HUMAN protein phosphatase 1, regulatory subunit 15B 701 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) AAGCATGTTCCCTGGAGTCTA 0.408000 16 49 0 0 1 0 0 ZNF395 55893 broad.mit.edu 37 8 28210782 28210782 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:28210782C>T ENST00000344423.5 - 5 858 c.727G>A c.(727-729)Ggg>Agg p.G243R ZNF395_ENST00000523202.1_Missense_Mutation_p.G243R|ZNF395_ENST00000523095.1_Missense_Mutation_p.G243R NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 243 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) AAAGCATCCCCCAAATACTTG 0.597000 24 45 0 0 1 0 0 TRHDE 29953 broad.mit.edu 37 12 72680484 72680484 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:72680484C>T ENST00000261180.4 + 2 899 c.803C>T c.(802-804)tCg>tTg p.S268L NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 268 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 ACTCAGTTTTCGCCTACACAT 0.363000 34 56 0 0 1 0 0 C1R 715 broad.mit.edu 37 12 7242309 7242309 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:7242309G>A ENST00000542285.1 - 4 591 c.442C>T c.(442-444)Cgg>Tgg p.R148W P00736 C1R_HUMAN complement component 1, r subcomponent 149 EGF-like; calcium-binding (Potential). complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1) 16 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) GATTTGCTCCGGGAAGCACAT 0.557000 14 23 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234300 21234300 + Silent SNP G G A rs147543230 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:21234300G>A ENST00000233242.1 - 26 5567 c.5440C>T c.(5440-5442)Cta>Tta p.L1814L NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1814 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCTAGCCGTAGTTTCCCATTG 0.413000 162 455 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 90020308 90020308 + Missense_Mutation SNP T T G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:90020308T>G ENST00000428670.3 - 8 1508 c.1052A>C c.(1051-1053)aAa>aCa p.K351T ATP2B1_ENST00000393164.2_Missense_Mutation_p.K94T|ATP2B1_ENST00000348959.3_Missense_Mutation_p.K351T|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K351T|ATP2B1_ENST00000261173.2_Missense_Mutation_p.K351T P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 351 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 CAAATTTGCTTTCTTTTTATC 0.373000 12 30 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6690717 6690717 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:6690717C>T ENST00000245907.6 - 27 3504 c.3412G>A c.(3412-3414)Gag>Aag p.E1138K NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1138 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ATGTCTTTCTCGTTGTTGTTC 0.532000 9 27 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140558780 140558780 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140558780G>A ENST00000239444.2 + 1 1410 c.1165G>A c.(1165-1167)Gat>Aat p.D389N NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 389 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CATTCAGGAGGATCTACCCTT 0.453000 27 54 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223441931 223441931 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:223441931C>T ENST00000343846.3 - 3 1081 c.448G>A c.(448-450)Gga>Aga p.G150R SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.G150R|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Missense_Mutation_p.G150R Q5VX71 SUSD4_HUMAN sushi domain containing 4 150 Sushi 2. integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) ATCTTGAATCCTTCATGACAA 0.423000 25 42 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740899 140740899 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140740899G>A ENST00000522605.1 + 1 1197 c.1197G>A c.(1195-1197)aaG>aaA p.K399K PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCCTCAAAGAACTATTACA 0.483000 30 76 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10468395 10468395 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:10468395G>A ENST00000382483.3 - 4 3436 c.3213C>T c.(3211-3213)agC>agT p.S1071S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 1071 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GTGCCCGCAGGCTCACCCTGC 0.687000 6 23 0 0 1 0 0 RNF165 494470 broad.mit.edu 37 18 44030289 44030289 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:44030289C>T ENST00000269439.7 + 5 697 c.646C>T c.(646-648)Cct>Tct p.P216S RNF165_ENST00000543885.1_Missense_Mutation_p.P24S NM_152470.2 NP_689683.2 Q6ZSG1 RN165_HUMAN ring finger protein 165 216 zinc ion binding NS(1)|large_intestine(4)|lung(6) 11 READ - Rectum adenocarcinoma(1;0.0873) CTACCCTTACCCTCAGCTTCA 0.512000 22 49 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169519969 169519969 + Missense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:169519969G>T ENST00000367796.3 - 9 1506 c.1305C>A c.(1303-1305)ttC>ttA p.F435L F5_ENST00000367797.3_Missense_Mutation_p.F435L|F5_ENST00000546081.1_Missense_Mutation_p.F298L P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 435 F5/8 type A 2.|Plastocyanin-like 3. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) CCATATTTTTGAACACGATCT 0.373000 8 23 0.000157383 0.000158446 1 1 0 FLNC 2318 broad.mit.edu 37 7 128494210 128494210 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:128494210G>A ENST00000325888.8 + 40 6928 c.6667G>A c.(6667-6669)Ggg>Agg p.G2223R RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.G2190R NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2223 Intradomain insert. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 TGCTGTGTTTGGGGACTTCCT 0.716000 6 23 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21453303 21453303 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:21453303C>T ENST00000307378.6 - 9 1609 c.889G>A c.(889-891)Gaa>Aaa p.E297K SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E295K|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E297K|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E165K|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E165K NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 297 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 CCATATTTTTCCTTCTTGACC 0.294000 10 27 0 0 1 0 0 C7orf10 79783 broad.mit.edu 37 7 40900030 40900030 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:40900030C>T ENST00000309930.5 + 15 1392 c.1368C>T c.(1366-1368)atC>atT p.I456I C7orf10_ENST00000401647.2_Silent_p.I382I|C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000335693.4_Silent_p.I430I NM_001193311.1|NM_024728.2 NP_001180240.1|NP_079004.1 Q9HAC7 CG010_HUMAN chromosome 7 open reading frame 10 430 transferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2) 18 ACAGGGCCATCGGGGAGCTGC 0.562000 23 77 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067360 190067360 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:190067360C>T ENST00000367462.3 - 8 2320 c.2089G>A c.(2089-2091)Gat>Aat p.D697N FAM5C_ENST00000534846.1_Missense_Mutation_p.D595N|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 697 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AGTGCTGAATCCTGGGATCCC 0.468000 27 59 0 0 1 0 0 KRT71 112802 broad.mit.edu 37 12 52941685 52941685 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:52941685G>A ENST00000267119.5 - 6 1129 c.1060C>T c.(1060-1062)Ctc>Ttc p.L354F NM_033448.2 NP_258259.1 Q3SY84 K2C71_HUMAN keratin 71 354 Coil 2.|Rod. structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.194) CTCTGGATGAGCCGAGTGAGC 0.562000 32 91 0 0 1 0 0 OTOP2 92736 broad.mit.edu 37 17 72921748 72921748 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:72921748C>T ENST00000331427.4 + 3 503 c.411C>T c.(409-411)atC>atT p.I137I OTOP2_ENST00000580223.1_Silent_p.I137I NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 137 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) CCATCAAGATCCTGCACCCCC 0.537000 28 152 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98232049 98232049 + Nonsense_Mutation SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:98232049C>A ENST00000284049.3 - 11 1740 c.1591G>T c.(1591-1593)Gga>Tga p.G531* NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 531 Helicase ATP-binding. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) AAAAAAGGTCCATATAATTGA 0.378000 15 36 3.45872e-05 3.48933e-05 1 1 0 IGLV2-11 28816 broad.mit.edu 37 22 23135302 23135302 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:23135302C>T ENST00000390314.2 + 0 206 AACTATGTCTCCTGGTACCAA 0.552000 75 204 0 0 1 0 0 TINAG 27283 broad.mit.edu 37 6 54208096 54208096 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:54208096G>A ENST00000259782.4 + 5 793 c.697G>A c.(697-699)Ggc>Agc p.G233S NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 233 cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis basement membrane cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1) 34 Lung NSC(77;0.0518) LUSC - Lung squamous cell carcinoma(124;0.246) ATGGACTCATGGCCCATTGGA 0.388000 17 33 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168114072 168114072 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:168114072C>T ENST00000519560.1 - 30 3645 c.3226G>A c.(3226-3228)Gat>Aat p.D1076N SLIT3_ENST00000404867.3_Missense_Mutation_p.D1076N|SLIT3_ENST00000332966.8_Missense_Mutation_p.D1083N NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1076 EGF-like 5. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACACAGTCATCATTGTCTGTC 0.597000 14 33 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36123222 36123222 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:36123222C>T ENST00000249044.2 + 3 1107 c.1107C>T c.(1105-1107)tcC>tcT p.S369S NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 369 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 TTCGAGGATCCCGTGTGGTTA 0.602000 18 83 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468585 56468585 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:56468585G>A ENST00000288221.6 - 2 706 c.451C>T c.(451-453)Cag>Tag p.Q151* NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 151 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) AGCTGGGCCTGAAGATCTAAC 0.498000 80 163 0 0 1 0 0 C10orf120 399814 broad.mit.edu 37 10 124458859 124458859 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:124458859C>T ENST00000329446.4 - 2 277 c.246G>A c.(244-246)gaG>gaA p.E82E NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 82 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) TTACTAGGATCTCTTTTTCCA 0.488000 17 29 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15330430 15330430 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:15330430A>G ENST00000281513.5 - 49 6555 c.6530T>C c.(6529-6531)gTt>gCt p.V2177A NBAS_ENST00000441750.1_Missense_Mutation_p.V2057A NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 2177 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 CAAAAGTAAAACCAAGTGCTG 0.388000 18 50 0 0 1 0 0 ZNF197 10168 broad.mit.edu 37 3 44672663 44672663 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:44672663C>T ENST00000396058.1 + 2 667 c.500C>T c.(499-501)cCg>cTg p.P167L ZNF197_ENST00000383744.4_Missense_Mutation_p.P167L|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.P167L|ZNF197_ENST00000383745.2_Missense_Mutation_p.P167L O14709 ZN197_HUMAN zinc finger protein 197 167 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) GAAATTTGCCCGCATCCTCCT 0.527000 18 54 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40692992 40692992 + Silent SNP C C T rs142989436 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:40692992C>T ENST00000298910.7 + 25 3487 c.3429C>T c.(3427-3429)tcC>tcT p.S1143S LRRK2_ENST00000343742.2_Silent_p.S1143S NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1143 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) ACATTTCATCCCTATCAGAGA 0.408000 35 135 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873377 91873377 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:91873377C>T ENST00000373094.1 + 7 4327 c.3482C>T c.(3481-3483)tCc>tTc p.S1161F PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1124F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1143F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1124F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1153F|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1151F NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1161 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CTGGATCATTCCAGCTCTTCG 0.547000 17 15 0 0 1 0 0 OR10P1 121130 broad.mit.edu 37 12 56030784 56030784 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:56030784G>A ENST00000309675.2 + 1 141 c.109G>A c.(109-111)Gtc>Atc p.V37I NM_206899.1 NP_996782.1 Q8NGE3 O10P1_HUMAN olfactory receptor, family 10, subfamily P, member 1 37 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 GGTCTACCTGGTCACCTTGCT 0.572000 32 70 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118486107 118486107 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:118486107C>T ENST00000349139.4 + 11 1233 c.1186C>T c.(1186-1188)Cca>Tca p.P396S NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 396 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TTCACTGAATCCATCCTTGCC 0.468000 18 45 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113141782 113141782 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:113141782G>A ENST00000401783.2 - 44 10589 c.10253C>T c.(10252-10254)cCa>cTa p.P3418L SVEP1_ENST00000374469.1_Missense_Mutation_p.P3395L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1344L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3418 Sushi 34. 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 GTGAGCTGGTGGACCACATGA 0.398000 10 32 0 0 1 0 0 PRKACA 5566 broad.mit.edu 37 19 14204497 14204497 + Missense_Mutation SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:14204497A>C ENST00000308677.4 - 9 1069 c.873T>G c.(871-873)gaT>gaG p.D291E PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.D283E|PRKACA_ENST00000350356.3_5'UTR NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 291 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 GGTTCTTGATATCGTTGACCC 0.547000 41 105 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167552022 167552022 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:167552022G>A ENST00000519204.1 + 10 1931 c.1813G>A c.(1813-1815)Gat>Aat p.D605N TENM2_ENST00000520394.1_Missense_Mutation_p.D494N|CTB-178M22.1_ENST00000517408.1_RNA|TENM2_ENST00000403607.2_Missense_Mutation_p.D559N|TENM2_ENST00000518659.1_Missense_Mutation_p.D726N|TENM2_ENST00000545108.1_Missense_Mutation_p.D726N teneurin transmembrane protein 2 CTGCAGCTGCGATCCCAACTG 0.597000 7 6 0 0 1 0 0 LY86 9450 broad.mit.edu 37 6 6589013 6589013 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:6589013C>T ENST00000379953.2 + 2 398 c.46C>T c.(46-48)Ccc>Tcc p.P16S LY86-AS1_ENST00000435641.1_RNA|LY86-AS1_ENST00000429345.1_RNA|LY86_ENST00000230568.4_Missense_Mutation_p.P16S O95711 LY86_HUMAN lymphocyte antigen 86 16 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane large_intestine(2)|lung(6) 8 Ovarian(93;0.0377) TCTGATTTTTCCCAGCTGCAG 0.552000 27 96 0 0 1 0 0 NDRG1 10397 broad.mit.edu 37 8 134258865 134258865 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:134258865G>A ENST00000414097.2 - 13 1716 c.849C>T c.(847-849)ctC>ctT p.L283L NDRG1_ENST00000522476.1_Silent_p.L217L|NDRG1_ENST00000537882.1_Silent_p.L202L|NDRG1_ENST00000354944.5_Silent_p.L213L|NDRG1_ENST00000323851.7_Silent_p.L283L|NDRG1_ENST00000518176.1_Silent_p.L30L|NDRG1_ENST00000518066.1_Intron|NDRG1_ENST00000521414.1_5'UTR NM_001135242.1 NP_001128714.1 Q92597 NDRG1_HUMAN N-myc downstream regulated 1 283 cellular response to hypoxia|response to metal ion cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane protein binding NDRG1/ERG(5) endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1) 17 all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) GTACCTTGAGGAGAGTGGTCT 0.438000 T ERG prostate 34 94 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1053431 1053431 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:1053431C>T ENST00000263094.6 + 24 3555 c.3324C>T c.(3322-3324)gcC>gcT p.A1108A ABCA7_ENST00000435683.2_Silent_p.A970A|ABCA7_ENST00000433129.1_Silent_p.A1108A NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 1108 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACACGGGTGCCCATGACGGCA 0.677000 6 10 0 0 1 0 0 LRRK1 79705 broad.mit.edu 37 15 101586288 101586288 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:101586288C>T ENST00000284395.5 + 22 3457 c.3057C>T c.(3055-3057)ttC>ttT p.F1019F RP11-505E24.3_ENST00000558979.1_RNA|LRRK1_ENST00000388948.3_Silent_p.F1022F Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1022 small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1) 72 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) AGATGAGCTTCGTTCCCGTTG 0.542000 17 48 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120959299 120959299 + Missense_Mutation SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:120959299A>C ENST00000273666.6 + 14 1616 c.1345A>C c.(1345-1347)Agt>Cgt p.S449R STXBP5L_ENST00000492541.1_Missense_Mutation_p.S449R|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S449R|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S449R|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S449R NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 449 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GTGGCCAATCAGTGGAGGAGC 0.303000 9 23 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29600974 29600974 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:29600974G>A ENST00000431530.3 + 1 2227 c.2169G>A c.(2167-2169)ttG>ttA p.L723L NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 713 Mediates interaction with MAPRE1. 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 GTTCCGGATTGATGGTGTCTG 0.468000 17 36 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3146924 3146924 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:3146924G>A ENST00000355072.5 + 24 3257 c.3112G>A c.(3112-3114)Gtt>Att p.V1038I NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 1038 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) TGCCTTCCCAGTTTGCATTTG 0.358000 41 90 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24454285 24454285 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:24454285C>T ENST00000230036.1 - 14 1403 c.1293G>A c.(1291-1293)ctG>ctA p.L431L NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 431 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 TGTCCAGGTCCAGGTCAACAG 0.577000 22 92 0 0 1 0 0 DUS3L 56931 broad.mit.edu 37 19 5786495 5786495 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:5786495G>A ENST00000309061.7 - 10 1641 c.1545C>T c.(1543-1545)acC>acT p.T515T DUS3L_ENST00000320699.8_Silent_p.T273T NM_020175.2 NP_064560.2 Q96G46 DUS3L_HUMAN dihydrouridine synthase 3-like (S. cerevisiae) 515 tRNA processing flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2) 14 TCATGATCCCGGTGACACCAG 0.582000 7 21 0 0 1 0 0 UGT2B11 10720 broad.mit.edu 37 4 70078427 70078427 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:70078427G>A ENST00000446444.1 - 2 742 c.734C>T c.(733-735)aCc>aTc p.T245I RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA NM_001073.1 NP_001064.1 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B11 245 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 CTCAAATAAGGTAGTGGGTCT 0.353000 19 77 0 0 1 0 0 TSHR 7253 broad.mit.edu 37 14 81574933 81574933 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:81574933T>C ENST00000554435.1 + 9 759 c.733T>C c.(733-735)Tcc>Ccc p.S245P TSHR_ENST00000298171.2_Intron|TSHR_ENST00000342443.6_Intron|TSHR_ENST00000554263.1_3'UTR|RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000541158.2_Intron P16473 TSHR_HUMAN thyroid stimulating hormone receptor 251 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CTTCTGCAAGTCCCTCTTTTC 0.433000 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 30 71 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21804670 21804670 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:21804670C>T ENST00000318220.6 + 12 1906 c.858C>T c.(856-858)ccC>ccT p.P286P NBPF3_ENST00000342104.5_Silent_p.P367P|NBPF3_ENST00000454000.2_Silent_p.P272P|NBPF3_ENST00000318249.5_Silent_p.P342P Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 342 NBPF 1. cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AGGAAGCCCCCCAGGAGTCCT 0.502000 34 103 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13936994 13936994 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:13936994C>T ENST00000294489.6 + 3 883 c.542C>T c.(541-543)gCc>gTc p.A181V PDPN_ENST00000376061.4_Missense_Mutation_p.A63V|PDPN_ENST00000475043.1_Missense_Mutation_p.A63V|PDPN_ENST00000513143.1_Missense_Mutation_p.A63V|PDPN_ENST00000376057.4_Missense_Mutation_p.A181V|PDPN_ENST00000487038.1_Missense_Mutation_p.A63V|PDPN_ENST00000509009.1_Missense_Mutation_p.A100V Q86YL7 PDPN_HUMAN podoplanin 105 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) TCAAACGTGGCCACCAGTCAC 0.493000 9 57 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182848 140182848 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140182848C>T ENST00000522353.2 + 1 2066 c.2066C>T c.(2065-2067)cCg>cTg p.P689L PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.P689L|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACGGGCCCGGAAGCTGCA 0.637000 19 39 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176308361 176308361 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:176308361G>A ENST00000292432.5 - 18 2660 c.2569C>T c.(2569-2571)Ctg>Ttg p.L857L NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 857 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGCTCTTCCAGGCCCCGGTTC 0.667000 20 48 0 0 1 0 0 HDAC9 9734 broad.mit.edu 37 7 18801810 18801810 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:18801810G>A ENST00000406451.3 + 15 2215 c.2065G>A c.(2065-2067)Gaa>Aaa p.E689K HDAC9_ENST00000432645.2_Missense_Mutation_p.E689K|HDAC9_ENST00000441542.2_Missense_Mutation_p.E692K|HDAC9_ENST00000401921.1_Missense_Mutation_p.E648K NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 689 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity p.E692*(1) breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) CAGCCTGGAGGAAATACAGCT 0.483000 4 22 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117718564 117718564 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:117718564G>A ENST00000317775.6 - 8 2175 c.1490C>T c.(1489-1491)aCc>aTc p.T497I NOS1_ENST00000338101.4_Missense_Mutation_p.T497I|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 497 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTCCCCCAGGGTGGAGCCGTC 0.602000 17 44 0 0 1 0 0 ABHD11 83451 broad.mit.edu 37 7 73151288 73151288 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:73151288A>G ENST00000222800.3 - 5 855 c.786T>C c.(784-786)ttT>ttC p.F262F ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Silent_p.F205F|ABHD11_ENST00000437775.2_Silent_p.F255F NM_148912.2 NP_683710.1 Q8NFV4 ABHDB_HUMAN abhydrolase domain containing 11 262 hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Lung NSC(55;0.0908)|all_lung(88;0.198) CACCAAGGAGAAAGAGTGTTG 0.592000 26 84 0 0 1 0 0 MORN1 79906 broad.mit.edu 37 1 2268246 2268246 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:2268246C>T ENST00000378531.3 - 11 1253 c.1080G>A c.(1078-1080)gtG>gtA p.V360V MORN1_ENST00000606372.1_5'UTR NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 360 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) AGCCCTGCTCCACTCGCTGAC 0.657000 10 19 0 0 1 0 0 C4orf26 152816 broad.mit.edu 37 4 76489641 76489641 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:76489641G>A ENST00000311623.4 + 2 420 c.385G>A c.(385-387)Gaa>Aaa p.E129K C4orf26_ENST00000435974.2_Silent_p.R143R NM_001257072.1|NM_178497.3 NP_001244001.1|NP_848592.2 Q17RF5 CD026_HUMAN chromosome 4 open reading frame 26 129 extracellular region kidney(1)|large_intestine(4)|stomach(1) 6 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) CTCATCTGAGGAAAGCTGAGA 0.398000 55 104 0 0 1 0 0 ZSCAN5A 79149 broad.mit.edu 37 19 56735033 56735033 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:56735033G>A ENST00000587340.1 - 5 1250 c.555C>T c.(553-555)atC>atT p.I185I ZSCAN5A_ENST00000254165.3_Silent_p.I68I|ZSCAN5A_ENST00000592355.1_Silent_p.I185I|ZSCAN5A_ENST00000587492.1_Silent_p.I39I|ZSCAN5A_ENST00000391713.1_Silent_p.I185I Q9BUG6 ZSA5A_HUMAN zinc finger and SCAN domain containing 5A 185 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 CCCTGGGCAGGATCTGCAGCT 0.617000 13 30 0 0 1 0 0 RUNDC3B 154661 broad.mit.edu 37 7 87399899 87399899 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:87399899C>T ENST00000338056.3 + 8 1094 c.683C>T c.(682-684)tCt>tTt p.S228F RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S211F|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S211F|RUNDC3B_ENST00000496000.1_3'UTR NM_001134405.1|NM_138290.2 NP_001127877.1|NP_612147.1 Q96NL0 RUN3B_HUMAN RUN domain containing 3B 228 breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2) 26 Esophageal squamous(14;0.00164) CTTCCCAGTTCTGATAGTATC 0.383000 8 10 0 0 1 0 0 KLHL14 57565 broad.mit.edu 37 18 30257198 30257198 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:30257198C>T ENST00000359358.4 - 8 2122 c.1684G>A c.(1684-1686)Ggc>Agc p.G562S NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 562 cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 CAGCCAGGGCCACTTCGACCC 0.473000 25 64 0 0 1 0 0 WBP11P1 441818 broad.mit.edu 37 18 30093412 30093412 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:30093412C>T ENST00000567636.1 + 0 1787 NR_003558.1 AGCTCCCTTGCTGAACCCTGA 0.527000 25 46 0 0 1 0 0 GSAP 54103 broad.mit.edu 37 7 76958673 76958673 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:76958673C>T ENST00000257626.7 - 21 1788 c.1710G>A c.(1708-1710)agG>agA p.R570R GSAP_ENST00000440473.1_Intron NM_017439.3 NP_059135.2 gamma-secretase activating protein CAAGAATATTCCTCACGTATG 0.373000 4 30 0 0 1 0 0 ARRDC1 92714 broad.mit.edu 37 9 140508890 140508890 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:140508890C>T ENST00000371421.4 + 6 822 c.758C>T c.(757-759)cCg>cTg p.P253L ARRDC1_ENST00000491911.1_3'UTR NM_152285.2 NP_689498.1 Q8N5I2 ARRD1_HUMAN arrestin domain containing 1 253 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) TCGGCCCTGCCGGGCTGCAGC 0.682000 26 73 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60704128 60704128 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:60704128C>T ENST00000005286.4 + 11 2977 c.2824C>T c.(2824-2826)Cct>Tct p.P942S TMEM132A_ENST00000453848.2_Missense_Mutation_p.P941S NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 941 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 CCCTGGCCCTCCTGGGGGCAC 0.716000 3 18 0 0 1 0 0 DDI1 414301 broad.mit.edu 37 11 103908310 103908310 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:103908310C>T ENST00000302259.3 + 1 1003 c.760C>T c.(760-762)Cct>Tct p.P254S PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 254 proteolysis aspartic-type endopeptidase activity central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) GAATGGGCATCCTTTGAAGGC 0.498000 41 42 0 0 1 0 0 SP7 121340 broad.mit.edu 37 12 53722606 53722606 + Missense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:53722606G>T ENST00000536324.2 - 3 903 c.620C>A c.(619-621)cCa>cAa p.P207Q SP7_ENST00000303846.3_Missense_Mutation_p.P207Q|SP7_ENST00000537210.2_Missense_Mutation_p.P189Q NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 207 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 GTAGGGGGCTGGATTAAGGGG 0.597000 20 44 1.50039e-11 1.52398e-11 1 1 0 IGDCC4 57722 broad.mit.edu 37 15 65676369 65676369 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:65676369G>A ENST00000352385.2 - 20 3940 c.3731C>T c.(3730-3732)tCc>tTc p.S1244F IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1244 integral to membrane|plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 44 GGAGACCGGGGATCTGGGCAG 0.622000 13 29 0 0 1 0 0 FRZB 2487 broad.mit.edu 37 2 183707222 183707222 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:183707222C>T ENST00000295113.4 - 3 1185 c.576G>A c.(574-576)cgG>cgA p.R192R NM_001463.3 NP_001454.2 Q92765 SFRP3_HUMAN frizzled-related protein 192 NTR. brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway cytoplasm|extracellular space|membrane PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231) TGTAATTGTTCCGGAAATAGG 0.353000 14 55 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 17113537 17113537 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:17113537C>T ENST00000377833.4 - 19 2578 c.2513G>A c.(2512-2514)gGa>gAa p.G838E NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 838 CUB 4. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGTTCTTTCTCCAGGATACAC 0.453000 15 44 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38991298 38991298 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:38991298C>T ENST00000355481.4 + 46 7507 c.7376C>T c.(7375-7377)tCc>tTc p.S2459F RYR1_ENST00000360985.3_Missense_Mutation_p.S2459F|RYR1_ENST00000359596.3_Missense_Mutation_p.S2459F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2459 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ATCCTCCGCTCCCTTGTGCCC 0.642000 5 30 0 0 1 0 0 FABP1 2168 broad.mit.edu 37 2 88425751 88425751 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:88425751C>T ENST00000393750.3 - 2 215 c.184G>A c.(184-186)Gaa>Aaa p.E62K FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.E62K P07148 FABPL_HUMAN fatty acid binding protein 1, liver 62 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 ACCGTGAATTCGTTTTGGATC 0.517000 66 171 0 0 1 0 0 NEFL 4747 broad.mit.edu 37 8 24813348 24813348 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:24813348C>T ENST00000221169.5 - 0 1276 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton p.E228K(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) ATCTCCTCTTCGTGCACTTTC 0.612000 9 18 0 0 1 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54420801 54420801 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:54420801G>A ENST00000474759.1 + 4 429 c.381_splice c.e4+1 p.Q127_splice CACNA2D3_ENST00000288197.5_Splice_Site_p.Q127_splice|CACNA2D3_ENST00000490478.1_Splice_Site_p.Q33_splice|CACNA2D3_ENST00000415676.2_Splice_Site_p.Q127_splice NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 127 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CAGACTTACAGGTAACTGATT 0.383000 3 14 0 0 1 0 0 GATA6 2627 broad.mit.edu 37 18 19762738 19762738 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:19762738G>A ENST00000269216.3 + 5 1726 c.1449G>A c.(1447-1449)atG>atA p.M483I GATA6_ENST00000581694.1_Missense_Mutation_p.M483I NM_005257.4 NP_005248.2 Q92908 GATA6_HUMAN GATA binding protein 6 483 blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.M483I(1) NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 18 all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246) STAD - Stomach adenocarcinoma(5;0.106) CACTTGCTATGAAAAAAGAGG 0.328000 5 15 0 0 1 0 0 RIN1 9610 broad.mit.edu 37 11 66100171 66100171 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:66100171G>A ENST00000311320.4 - 10 2054 c.1928C>T c.(1927-1929)aCc>aTc p.T643I RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000424433.2_Missense_Mutation_p.T538I|RIN1_ENST00000530056.1_Missense_Mutation_p.T477I NM_004292.2 NP_004283.2 Q13671 RIN1_HUMAN Ras and Rab interactor 1 643 Ras and 14-3-3 protein binding region.|Ras-associating. endocytosis|signal transduction cytoplasm|cytoskeleton|plasma membrane GTPase activator activity|protein binding breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1) 14 CACGGCCAGGGTCTTGGAGGT 0.592000 32 85 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131704166 131704166 + Missense_Mutation SNP G G A rs149091381 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:131704166G>A ENST00000409359.1 + 4 4151 c.2953G>A c.(2953-2955)Gga>Aga p.G985R ARHGEF4_ENST00000409303.1_Missense_Mutation_p.G129R|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.G129R|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.G129R|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.G129R|ARHGEF4_ENST00000392953.3_Missense_Mutation_p.G129R Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 129 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) TGCTCCAACGGGACTGAACCA 0.527000 51 36 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120022285 120022285 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:120022285G>A ENST00000379551.2 + 3 1084 c.727G>A c.(727-729)Gga>Aga p.G243R PRR16_ENST00000407149.2_Missense_Mutation_p.G266R|PRR16_ENST00000505123.1_Missense_Mutation_p.G196R|PRR16_ENST00000446965.1_Missense_Mutation_p.G196R NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 266 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) AGAAAATGGGGGAATGGGAAT 0.547000 12 25 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23235902 23235902 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:23235902C>T ENST00000285848.5 + 1 172 c.172C>T c.(172-174)Ccg>Tcg p.P58S OXA1L_ENST00000604262.1_5'UTR NM_005015.3 NP_005006.3 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding p.P58S(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) AAGTCCTCTTCCGGGCAAAAT 0.607000 32 98 0 0 1 0 0 C1QTNF9B 387911 broad.mit.edu 37 13 24465787 24465787 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:24465787G>A ENST00000382137.3 - 3 711 c.643C>T c.(643-645)Cct>Tct p.P215S C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.P215S NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 215 C1q. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 TCTGAAGAAGGAAACTTGCTC 0.453000 25 116 0 0 1 0 0 TTC29 83894 broad.mit.edu 37 4 147796069 147796069 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:147796069C>T ENST00000513335.1 - 8 875 c.676G>A c.(676-678)Gaa>Aaa p.E226K TTC29_ENST00000325106.4_Missense_Mutation_p.E200K|TTC29_ENST00000398886.4_Missense_Mutation_p.E226K Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 200 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TCAGCAGCTTCCAGAAGCTGA 0.423000 7 21 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5768206 5768206 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:5768206C>T ENST00000381624.3 + 18 1648 c.1587C>T c.(1585-1587)atC>atT p.I529I CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.I187I NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 529 integral to membrane CCATGGGCATCCTGGACCCCT 0.522000 14 28 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 3856110 3856110 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:3856110C>T ENST00000324333.10 - 8 2100 c.1907G>A c.(1906-1908)aGa>aAa p.R636K GLIS3_ENST00000381971.3_Missense_Mutation_p.R791K|GLIS3_ENST00000461870.1_5'UTR NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 636 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) AGGCTGTGTTCTTTGCAGTAT 0.463000 15 48 0 0 1 0 0 GIMAP4 55303 broad.mit.edu 37 7 150267087 150267087 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:150267087G>A ENST00000461940.1 + 2 181 c.98G>A c.(97-99)gGa>gAa p.G33E GIMAP4_ENST00000494750.1_Intron|GIMAP4_ENST00000255945.2_Intron Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 20 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGCTGCAGGGAGGTTAGCAG 0.577000 7 27 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141267566 141267566 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:141267566G>A ENST00000389484.3 - 52 9300 c.8329C>T c.(8329-8331)Cga>Tga p.R2777* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2777 LDL-receptor class A 17. 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) AGCCAATGTCGGGGCACGCAG 0.517000 TSP Lung(27;0.18) 55 53 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746756 77746756 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:77746756T>C ENST00000409088.3 - 3 653 c.239A>G c.(238-240)cAg>cGg p.Q80R LRRTM4_ENST00000409282.1_Missense_Mutation_p.Q81R|LRRTM4_ENST00000409911.1_Missense_Mutation_p.Q81R|LRRTM4_ENST00000409884.1_Missense_Mutation_p.Q80R|LRRTM4_ENST00000409093.1_Missense_Mutation_p.Q80R NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 80 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GCCGGCAAACTGATTGGATTT 0.418000 29 57 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28273951 28273951 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:28273951G>A ENST00000305242.5 - 4 664 c.572C>T c.(571-573)tCa>tTa p.S191L ARMC4_ENST00000239715.3_Missense_Mutation_p.S48L NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 191 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GACTCACAATGAAATATGTTT 0.393000 5 12 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17283614 17283614 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:17283614C>T ENST00000595618.1 + 13 2134 c.1982C>T c.(1981-1983)gCc>gTc p.A661V MYO9B_ENST00000594824.1_Missense_Mutation_p.A661V|MYO9B_ENST00000397274.2_Missense_Mutation_p.A661V NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 661 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GACATCGTGGCCCTGCTGCGG 0.672000 22 66 0 0 1 0 0 HEXIM1 10614 broad.mit.edu 37 17 43226931 43226931 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:43226931C>T ENST00000332499.2 + 1 2248 c.374C>T c.(373-375)tCc>tTc p.S125F NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 125 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 TGTCATGACTCCGAGGCCAGT 0.662000 OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 1 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88702456 88702456 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:88702456G>A ENST00000372027.4 - 6 2158 c.2085C>T c.(2083-2085)gcC>gcT p.A695A NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 695 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 GCGCCAGCCCGGCCAGGGCGG 0.771000 4 10 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168175381 168175381 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:168175381C>T ENST00000519560.1 - 20 2615 c.2196G>A c.(2194-2196)atG>atA p.M732I SLIT3_ENST00000404867.3_Missense_Mutation_p.M732I|SLIT3_ENST00000332966.8_Missense_Mutation_p.M732I NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 732 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCACTGTCTCCATACAGGTGC 0.637000 27 58 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82416724 82416724 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:82416724G>A ENST00000370728.1 + 10 2160 c.1515G>A c.(1513-1515)atG>atA p.M505I LPHN2_ENST00000370725.1_Missense_Mutation_p.M505I|LPHN2_ENST00000359929.3_Missense_Mutation_p.M505I|LPHN2_ENST00000370727.1_Missense_Mutation_p.M505I|LPHN2_ENST00000370717.2_Missense_Mutation_p.M505I|LPHN2_ENST00000271029.4_Missense_Mutation_p.M505I|LPHN2_ENST00000370723.1_Missense_Mutation_p.M505I|LPHN2_ENST00000335786.5_Missense_Mutation_p.M505I|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Missense_Mutation_p.M505I|LPHN2_ENST00000319517.6_Missense_Mutation_p.M505I|LPHN2_ENST00000370721.1_Missense_Mutation_p.M443I|LPHN2_ENST00000370713.1_Missense_Mutation_p.M505I|LPHN2_ENST00000394879.1_Missense_Mutation_p.M505I|LPHN2_ENST00000370715.1_Missense_Mutation_p.M505I O95490 LPHN2_HUMAN latrophilin 2 505 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATCTCTGCATGATTTCCACTG 0.443000 30 54 0 0 1 0 0 TRBV7-8 28590 broad.mit.edu 37 7 142099725 142099725 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142099725G>A ENST00000390359.3 - 0 115 GTACCTAGGGGACTGGGAGAC 0.463000 18 40 0 0 1 0 0 SNCAIP 9627 broad.mit.edu 37 5 121759425 121759425 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:121759425C>T ENST00000261367.7 + 6 2562 c.1134C>T c.(1132-1134)atC>atT p.I378I SNCAIP_ENST00000261368.8_Silent_p.I331I|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000503116.2_Silent_p.I378I|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379536.2_Silent_p.I331I|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000379533.2_Silent_p.I378I Q9Y6H5 SNCAP_HUMAN synuclein, alpha interacting protein 331 cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion cytoplasm|neuronal cell body|nucleolus|presynaptic membrane ubiquitin protein ligase binding NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 39 all_cancers(142;0.00787)|Prostate(80;0.0327) KIRC - Kidney renal clear cell carcinoma(527;0.206) OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232) AAGGACAGATCTCTCTCCTGG 0.403000 10 47 0 0 1 0 0 MEI1 150365 broad.mit.edu 37 22 42180389 42180389 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:42180389T>A ENST00000401548.3 + 25 3174 c.3134T>A c.(3133-3135)cTc>cAc p.L1045H MEI1_ENST00000300398.4_Missense_Mutation_p.L53H|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.L378H NM_152513.3 NP_689726.3 Q5TIA1 MEI1_HUMAN meiosis inhibitor 1 1045 binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TTGAAGGCTCTCAGCTTTCCA 0.498000 11 33 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47648602 47648602 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:47648602C>T ENST00000371917.4 + 38 5080 c.5080C>T c.(5080-5082)Ctt>Ttt p.L1694F NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 1694 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) CAGTGAAGCTCTTGCCTATTT 0.393000 45 176 0 0 1 0 0 EFHC2 80258 broad.mit.edu 37 X 44109483 44109483 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:44109483C>T ENST00000420999.1 - 5 898 c.815G>A c.(814-816)cGa>cAa p.R272Q NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 272 DM10 2. calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 TAGAGCATCTCGGCCTGAGCT 0.438000 8 5 0 0 1 0 0 CDS1 1040 broad.mit.edu 37 4 85562059 85562059 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:85562059C>T ENST00000295887.5 + 10 1371 c.948C>T c.(946-948)tcC>tcT p.S316S NM_001263.3 NP_001254.2 Q92903 CDS1_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1 316 signal transduction|visual perception endoplasmic reticulum membrane|integral to membrane diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity 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) ATGTAAACTCCTTCGTGACAG 0.403000 28 90 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206230863 206230863 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:206230863C>T ENST00000367126.4 + 2 1461 c.996C>T c.(994-996)tgC>tgT p.C332C NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 332 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TCAACAGCTGCTGCAACCCCT 0.582000 4 22 0 0 1 0 0 MUCL1 118430 broad.mit.edu 37 12 55248921 55248921 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:55248921C>T ENST00000308796.6 + 2 126 c.80C>T c.(79-81)cCa>cTa p.P27L MUCL1_ENST00000547990.1_3'UTR|MUCL1_ENST00000546809.1_Missense_Mutation_p.P22L NM_058173.2 NP_477521.1 Q96DR8 MUCL1_HUMAN mucin-like 1 27 Thr-rich. extracellular region|membrane breast(1)|kidney(1)|lung(1) 3 ACAGCTGCTCCAGCTGACACG 0.428000 4 16 0 0 1 0 0 DGKB 1607 broad.mit.edu 37 7 14620490 14620490 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:14620490C>T ENST00000403951.2 - 19 2028 c.1609G>A c.(1609-1611)Gga>Aga p.G537R DGKB_ENST00000444700.2_Missense_Mutation_p.G518R|DGKB_ENST00000407950.1_Missense_Mutation_p.G529R|DGKB_ENST00000406247.3_Missense_Mutation_p.G537R|DGKB_ENST00000258767.5_Missense_Mutation_p.G537R|DGKB_ENST00000402815.1_Missense_Mutation_p.G536R|DGKB_ENST00000399322.3_Missense_Mutation_p.G537R|DGKB_ENST00000403963.1_5'UTR Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta 90kDa 537 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Phosphatidylserine(DB00144) GCTTTACCTCCTCCCCATCGC 0.428000 9 32 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33962736 33962736 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:33962736G>A ENST00000389232.4 + 38 5909 c.5839G>A c.(5839-5841)Gag>Aag p.E1947K RYR3_ENST00000415757.3_Missense_Mutation_p.E1947K NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1947 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCAGCCGACGGAGGAGGAGGA 0.453000 21 58 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439635 145439635 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:145439635G>A ENST00000511217.1 + 8 1814 c.1762G>A c.(1762-1764)Ggc>Agc p.G588S SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.G588S Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 588 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATCAGCAGGGGCAGTGAGGC 0.647000 14 36 0 0 1 0 0 ZNF234 10780 broad.mit.edu 37 19 44662009 44662009 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:44662009C>T ENST00000426739.2 + 6 2098 c.1840C>T c.(1840-1842)Cat>Tat p.H614Y ZNF234_ENST00000592437.1_Missense_Mutation_p.H614Y NM_006630.2 NP_006621.1 Q14588 ZN234_HUMAN zinc finger protein 234 614 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1) 23 Prostate(69;0.0435) TCTCCAACTTCATCAGAGTGT 0.463000 28 83 0 0 1 0 0 TNFAIP1 7126 broad.mit.edu 37 17 26667480 26667480 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:26667480G>A ENST00000226225.2 + 3 618 c.351G>A c.(349-351)gtG>gtA p.V117V TNFAIP1_ENST00000544907.2_Silent_p.V13V|TNFAIP1_ENST00000583213.1_Intron NM_021137.4 NP_066960.1 Q13829 BACD2_HUMAN tumor necrosis factor, alpha-induced protein 1 (endothelial) 117 apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex GTP-Rho binding|voltage-gated potassium channel activity endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 12 all_lung(13;0.000294)|Lung NSC(42;0.000964) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) AGGGGCTGGTGAATATGTGCC 0.557000 26 25 0 0 1 0 0 KAZN 23254 broad.mit.edu 37 1 15439002 15439002 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:15439002G>A ENST00000376030.2 + 14 2422 c.2128G>A c.(2128-2130)Gag>Aag p.E710K NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein 710 keratinization cornified envelope|cytoplasm|desmosome|nucleus central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2) 25 AGGAAAGGAGGAGAACAGCAG 0.577000 5 8 0 0 1 0 0 LHFPL3 375612 broad.mit.edu 37 7 103969529 103969529 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:103969529C>T ENST00000535008.1 + 1 426 c.302C>T c.(301-303)cCc>cTc p.P101L LHFPL3_ENST00000424859.1_Missense_Mutation_p.P87L|LHFPL3_ENST00000543266.1_Missense_Mutation_p.P101L|LHFPL3_ENST00000401970.2_Missense_Mutation_p.P87L Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 87 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 TCCACGCTGCCCTCGGGCGCC 0.582000 19 56 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140347891 140347891 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140347891C>T ENST00000289269.5 + 1 2072 c.1540C>T c.(1540-1542)Caa>Taa p.Q514* PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 514 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGGAGATTCAAGGGCTGCC 0.493000 21 76 0 0 1 0 0 RNF128 79589 broad.mit.edu 37 X 106028359 106028359 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:106028359G>A ENST00000255499.2 + 3 1047 c.797G>A c.(796-798)gGa>gAa p.G266E RNF128_ENST00000324342.3_Missense_Mutation_p.G240E NM_194463.1 NP_919445.1 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 266 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 CTGAAACAAGGAGACAAGGTA 0.343000 28 22 0 0 1 0 0 TACR3 6870 broad.mit.edu 37 4 104511109 104511109 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:104511109G>A ENST00000304883.2 - 5 1268 c.1128C>T c.(1126-1128)ttC>ttT p.F376F RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 376 integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AAACTTTGATGAAAGGACACC 0.443000 18 43 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87150164 87150164 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:87150164C>T ENST00000265724.3 - 23 3131 c.2714G>A c.(2713-2715)cGa>cAa p.R905Q ABCB1_ENST00000543898.1_Missense_Mutation_p.R841Q|ABCB1_ENST00000488737.2_5'UTR NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 905 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AACAACGGTTCGGAAGTTTTC 0.413000 13 29 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84559418 84559418 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:84559418G>A ENST00000262753.4 - 14 1642 c.1497C>T c.(1495-1497)ttC>ttT p.F499F POF1B_ENST00000373145.3_Silent_p.F499F NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 499 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GCTTAAATTGGAAGTCACTAC 0.358000 7 8 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126134476 126134476 + Silent SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:126134476T>C ENST00000373631.3 + 9 2458 c.2457T>C c.(2455-2457)ggT>ggC p.G819G CRB2_ENST00000359999.3_Silent_p.G819G|CRB2_ENST00000373629.2_Silent_p.G487G NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 819 EGF-like 11. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 GTTTCAATGGTGGGACTTGCC 0.602000 10 31 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117848948 117848948 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:117848948G>A ENST00000350763.4 - 3 1473 c.1062C>T c.(1060-1062)ggC>ggT p.G354G TNC_ENST00000341037.4_Silent_p.G354G|TNC_ENST00000535648.1_Silent_p.G354G|TNC_ENST00000542877.1_Silent_p.G354G|TNC_ENST00000423613.2_Silent_p.G354G|TNC_ENST00000537320.1_Silent_p.G354G|TNC_ENST00000346706.3_Silent_p.G354G|TNC_ENST00000345230.3_Silent_p.G354G|TNC_ENST00000340094.3_Silent_p.G354G NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 354 EGF-like 7. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 CCTCACACCGGCCCTGGGTGT 0.617000 15 65 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48735529 48735529 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:48735529G>A ENST00000285238.8 + 5 653 c.573G>A c.(571-573)agG>agA p.R191R ABCC3_ENST00000427699.1_Silent_p.R191R NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 191 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCTGCTTCAGGGAGAAACCTC 0.567000 78 72 0 0 1 0 0 TRIM24 8805 broad.mit.edu 37 7 138189046 138189046 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:138189046C>T ENST00000343526.4 + 2 591 c.376C>T c.(376-378)Cgt>Tgt p.R126C TRIM24_ENST00000415680.2_Missense_Mutation_p.R126C|TRIM24_ENST00000497516.1_3'UTR O15164 TIF1A_HUMAN tripartite motif containing 24 126 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding p.R126C(2)|p.R84C(1) breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 40 TGGAGTCATTCGTTGCCCAGT 0.358000 17 40 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57428497 57428497 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:57428497C>T ENST00000371100.4 + 1 729 c.177C>T c.(175-177)atC>atT p.I59I GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Silent_p.I59I|GNAS_ENST00000371102.4_Silent_p.I59I|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000464624.2_3'UTR NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) ACGAGCCCATCCCCGTCGAGA 0.647000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 4 11 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100154805 100154805 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:100154805G>A ENST00000263174.4 + 7 1364 c.989G>A c.(988-990)cGa>cAa p.R330Q PALMD_ENST00000605497.1_Missense_Mutation_p.R330Q NM_017734.4 NP_060204.1 Q9NP74 PALMD_HUMAN palmdelphin 330 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) CCTCATCCCCGATCAGTGATT 0.468000 7 34 0 0 1 0 0 GPX6 257202 broad.mit.edu 37 6 28474134 28474134 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:28474134C>T ENST00000361902.1 - 3 363 c.314G>A c.(313-315)gGa>gAa p.G105E GPX6_ENST00000483058.1_5'UTR|GPX6_ENST00000474923.1_Missense_Mutation_p.G105E NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 105 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) TTCTTGTTTTCCAAACTGGTT 0.463000 38 51 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271650 59271650 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:59271650C>T ENST00000313253.1 + 1 602 c.602C>T c.(601-603)tCc>tTc p.S201F NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 TTGATGATTTCCAACAATGGC 0.502000 35 94 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2421251 2421251 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:2421251C>T ENST00000449969.1 + 10 1540 c.1379C>T c.(1378-1380)tCt>tTt p.S460F PLCH2_ENST00000378486.3_Missense_Mutation_p.S487F|PLCH2_ENST00000378488.3_Missense_Mutation_p.S487F|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Missense_Mutation_p.S487F|PLCH2_ENST00000378483.2_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 487 PI-PLC X-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) GGCGAGGTGTCTGATGAGGAC 0.612000 31 55 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37848882 37848882 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:37848882G>A ENST00000381967.4 + 10 1348 c.1248G>A c.(1246-1248)ggG>ggA p.G416G PGM2_ENST00000544359.1_Silent_p.G277G|PGM2_ENST00000537241.1_Silent_p.G256G NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 416 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 TAGACCAGGGGAAAACTGTTT 0.383000 6 26 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18030465 18030465 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:18030465G>A ENST00000205890.5 + 7 4356 c.4018G>A c.(4018-4020)Gag>Aag p.E1340K NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1340 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCAGAAACGGGAGGTCATGCA 0.577000 6 24 0 0 1 0 0 NCAM1 4684 broad.mit.edu 37 11 113075226 113075226 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:113075226C>T ENST00000316851.7 + 2 316 c.316_splice c.e2+1 p.Q106_splice NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_5'UTR|NCAM1_ENST00000401611.2_Splice_Site_p.Q115_splice NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 116 Ig-like C2-type 1. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane p.Q106*(1)|p.Q115*(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) GAAGATCTTTCGTAAGAGCCT 0.517000 20 11 0 0 1 0 0 CYP26C1 340665 broad.mit.edu 37 10 94828104 94828104 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:94828104G>A ENST00000285949.5 + 6 1219 c.1219G>A c.(1219-1221)Gtg>Atg p.V407M NM_183374.2 NP_899230.2 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, polypeptide 1 407 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1)|lung(3)|ovary(1) 5 Colorectal(252;0.122) GGGCTGGAGCGTGATGTATAG 0.652000 13 48 0 0 1 0 0 PTAFR 5724 broad.mit.edu 37 1 28477170 28477170 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:28477170C>T ENST00000373857.3 - 2 997 c.363G>A c.(361-363)cgG>cgA p.R121R PTAFR_ENST00000539896.1_Silent_p.R121R|PTAFR_ENST00000305392.3_Silent_p.R121R NM_000952.4|NM_001164722.2|NM_001164723.2 NP_000943.1|NP_001158194.1|NP_001158195.1 P25105 PTAFR_HUMAN platelet-activating factor receptor 121 chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1) 15 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) TCTTGATGGGCCGAGTTACTG 0.557000 20 55 0 0 1 0 0 IGHV3-38 28429 broad.mit.edu 37 14 106866677 106866677 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:106866677G>A ENST00000390618.2 - 0 154 GCCTCCCCCAGACTCCACCAG 0.562000 21 74 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84636176 84636176 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:84636176G>A ENST00000284136.6 - 16 1893 c.1850C>T c.(1849-1851)tCc>tTc p.S617F SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 617 Ig-like C2-type. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TGCTTGTTGGGATTTAGGTAT 0.388000 32 77 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179610943 179610943 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:179610943G>A ENST00000360870.5 - 46 16406 c.16184C>T c.(16183-16185)tCa>tTa p.S5395L TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 8903 Ig-like 34. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACAGCATCTGAATTTTCTGG 0.338000 26 36 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9577542 9577542 + Missense_Mutation SNP C C T rs148650284 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9577542C>T ENST00000301480.4 - 10 2294 c.2081G>A c.(2080-2082)cGa>cAa p.R694Q NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 694 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R694Q(1) NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 CATGGAATTTCGAAAGGAATT 0.378000 36 83 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2923856 2923856 + Missense_Mutation SNP G G C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:2923856G>C ENST00000254695.8 + 19 1808 c.1718G>C c.(1717-1719)gGc>gCc p.G573A RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.G554A|RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.G558A|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.G573A NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 573 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 CTGCACACGGGCTCAGAAGGC 0.632000 4 14 0 0 1 0 0 ZNF774 342132 broad.mit.edu 37 15 90903428 90903428 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:90903428G>A ENST00000354377.3 + 4 551 c.365G>A c.(364-366)gGa>gAa p.G122E ZNF774_ENST00000558115.1_3'UTR|ZNF774_ENST00000379090.5_Intron NM_001004309.2 NP_001004309.2 Q6NX45 ZN774_HUMAN zinc finger protein 774 122 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|stomach(1) 14 Melanoma(11;0.00551)|Lung NSC(78;0.0158)|all_lung(78;0.0331) BRCA - Breast invasive adenocarcinoma(143;0.0224)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GGGCAACATGGAACCCTTCCA 0.473000 9 38 0 0 1 0 0 PGBD2 267002 broad.mit.edu 37 1 249211135 249211135 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:249211135C>T ENST00000539153.1 + 4 598 c.343C>T c.(343-345)Cgt>Tgt p.R115C PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.R118C Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 118 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AAGAGATATTCGTCCAGACTT 0.493000 11 39 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8637857 8637857 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:8637857C>T ENST00000378641.3 + 8 1096 c.621C>T c.(619-621)ttC>ttT p.F207F PLCB1_ENST00000338037.6_Silent_p.F207F|PLCB1_ENST00000378637.2_Silent_p.F207F NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 207 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AAGAAGATTTCACTCCAGAAG 0.393000 33 42 0 0 1 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752402 62752402 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:62752402C>T ENST00000331425.6 - 0 1033 NR_003952.1 ACATTCTTCACAGGCATAGGG 0.428000 7 10 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154802038 154802038 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:154802038G>A ENST00000460393.1 + 2 202 c.82G>A c.(82-84)Gag>Aag p.E28K MME_ENST00000360490.2_Missense_Mutation_p.E28K|MME_ENST00000382989.3_Missense_Mutation_p.E28K|MME_ENST00000492661.1_Missense_Mutation_p.E28K|MME_ENST00000493237.1_Missense_Mutation_p.E28K|MME_ENST00000462745.1_Missense_Mutation_p.E28K NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 28 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) GACTCCACTGGAGATCAGCCT 0.468000 24 73 0 0 1 0 0 TMEM5 10329 broad.mit.edu 37 12 64202503 64202503 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:64202503C>T ENST00000537373.1 + 6 1131 c.183C>T c.(181-183)gcC>gcT p.A61A TMEM5_ENST00000261234.6_Silent_p.A321A NM_001278237.1 NP_001265166.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 321 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) ACCAAGATGCCTTGCTTCAGA 0.413000 22 49 0 0 1 0 0 LUZP2 338645 broad.mit.edu 37 11 25071642 25071642 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:25071642G>A ENST00000533227.1 + 10 853 c.566G>A c.(565-567)gGa>gAa p.G189E LUZP2_ENST00000336930.6_Missense_Mutation_p.G275E NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 275 Leucine-zipper. extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 ACAAAGGAAGGAAATCCAAGT 0.368000 13 38 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141736640 141736640 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:141736640C>T ENST00000475668.2 + 18 2148 c.2094C>T c.(2092-2094)tcC>tcT p.S698S MGAM_ENST00000549489.2_Silent_p.S698S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 698 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATCCTGCCTCCTTTGGAGCTG 0.502000 56 171 0 0 1 0 0 APBB1 322 broad.mit.edu 37 11 6424912 6424912 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:6424912G>A ENST00000389906.2 - 3 961 c.862C>T c.(862-864)Ccc>Tcc p.P288S APBB1_ENST00000533407.1_Missense_Mutation_p.P29S|APBB1_ENST00000530885.1_Missense_Mutation_p.P68S|APBB1_ENST00000311051.3_Missense_Mutation_p.P288S|APBB1_ENST00000299402.6_Missense_Mutation_p.P288S NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 288 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) CCCTGTGAGGGGGAGGCCCGG 0.652000 23 49 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131844304 131844304 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:131844304C>T ENST00000359827.3 - 25 5550 c.4588G>A c.(4588-4590)Gag>Aag p.E1530K PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1530K Q9HCM2 PLXA4_HUMAN plexin A4 1530 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 AGAATCTTCTCCTTGACCTGA 0.547000 64 190 0 0 1 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130828463 130828463 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:130828463G>A ENST00000509018.1 - 14 1748 c.1543C>T c.(1543-1545)Ctc>Ttc p.L515F RAPGEF6_ENST00000307984.5_Missense_Mutation_p.L515F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.L515F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.L515F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.L515F|FNIP1_ENST00000514667.1_Missense_Mutation_p.L565F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.L515F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.L230F NM_001164386.1|NM_016340.5 NP_001157858.1|NP_057424.3 Q8TEU7 RPGF6_HUMAN Rap guanine nucleotide exchange factor (GEF) 6 515 N-terminal Ras-GEF. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1) 31 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) AATAACCGGAGATGACCATTC 0.378000 8 20 0 0 1 0 0 BMP10 27302 broad.mit.edu 37 2 69098462 69098462 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:69098462G>A ENST00000295379.1 - 1 187 c.29C>T c.(28-30)gCt>gTt p.A10V NM_014482.1 NP_055297.1 O95393 BMP10_HUMAN bone morphogenetic protein 10 10 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2) 27 GCAGAAAAGAGCGCACAGTGT 0.522000 7 42 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41154047 41154047 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:41154047G>A ENST00000263413.3 - 15 2419 c.2155C>T c.(2155-2157)Cag>Tag p.Q719* C6_ENST00000337836.5_Nonsense_Mutation_p.Q719* NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 719 C5b-binding domain.|Sushi 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TACAATCTCTGAAATGGTGTA 0.458000 16 31 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133099203 133099203 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:133099203C>T ENST00000515826.1 + 3 771 c.648C>T c.(646-648)atC>atT p.I216I TMEM108_ENST00000393130.3_Silent_p.I216I|TMEM108_ENST00000321871.6_Silent_p.I216I|TMEM108_ENST00000508711.1_Intron Q6UXF1 TM108_HUMAN transmembrane protein 108 216 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 TGGGGAAAATCTTTCAGATCT 0.602000 17 39 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72700889 72700889 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:72700889G>A ENST00000469092.1 - 3 395 c.119C>T c.(118-120)aCc>aTc p.T40I CD300LF_ENST00000583937.1_Missense_Mutation_p.T37I|CD300LF_ENST00000581500.1_Missense_Mutation_p.T40I|CD300LF_ENST00000301573.9_Missense_Mutation_p.T37I|RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000326165.6_Missense_Mutation_p.T37I|CD300LF_ENST00000343125.4_Missense_Mutation_p.T40I|CD300LF_ENST00000464910.1_Missense_Mutation_p.T40I|CD300LF_ENST00000361254.4_Missense_Mutation_p.T40I Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 37 Ig-like V-type. integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 ACACTGCACGGTCAAGGAGCC 0.512000 88 74 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111936354 111936354 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:111936354G>A ENST00000305815.5 - 15 1977 c.1725C>T c.(1723-1725)acC>acT p.T575T SLC9C1_ENST00000487372.1_Silent_p.T527T NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 575 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity TTCTAGCAAAGGTAACTGTTT 0.303000 13 46 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 31995809 31995809 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:31995809G>A ENST00000438447.1 + 4 1494 c.1106G>A c.(1105-1107)gGa>gAa p.G369E PDZD2_ENST00000282493.3_Missense_Mutation_p.G369E O15018 PDZD2_HUMAN PDZ domain containing 2 369 PDZ 2. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTGAAGGAAGGAGGTGCCGCT 0.577000 11 42 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92732584 92732584 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:92732584C>T ENST00000379958.2 - 3 3096 c.2827G>A c.(2827-2829)Gga>Aga p.G943R NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 943 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTTCCAATTCCTAAGAATTTT 0.383000 13 28 0 0 1 0 0 PLCD4 84812 broad.mit.edu 37 2 219483456 219483456 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:219483456C>T ENST00000450993.2 + 4 675 c.336C>T c.(334-336)gcC>gcT p.A112A PLCD4_ENST00000432688.1_Silent_p.A112A|PLCD4_ENST00000417849.1_Silent_p.A112A NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 112 PH. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TTGAGGAGGCCCAGATATGGA 0.612000 13 4 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106209924 106209924 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:106209924G>A ENST00000369704.3 + 17 2606 c.2472G>A c.(2470-2472)aaG>aaA p.K824K NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 824 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) ATTTAAAGAAGAAATACCTCG 0.313000 33 63 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919933 48919933 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:48919933C>T ENST00000310194.1 + 1 519 c.519C>T c.(517-519)atC>atT p.I173I OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 173 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 AAGCCAAAATCATTCACCACT 0.507000 37 70 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45436370 45436370 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:45436370C>T ENST00000321429.4 + 18 2480 c.2073C>T c.(2071-2073)ttC>ttT p.F691F DUOX1_ENST00000389037.3_Silent_p.F691F|DUOX1_ENST00000561166.1_Silent_p.F337F NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 691 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity p.F691F(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) AGGTCAACTTCGTCCTGTCCA 0.612000 17 40 0 0 1 0 0 BRD3 8019 broad.mit.edu 37 9 136899928 136899928 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:136899928C>T ENST00000303407.7 - 11 2145 c.1960G>A c.(1960-1962)Gcc>Acc p.A654T BRD3_ENST00000473349.1_5'UTR NM_007371.3 NP_031397.1 Q15059 BRD3_HUMAN bromodomain containing 3 654 nucleus protein binding BRD3/C15orf55(3) kidney(1)|skin(1)|stomach(4) 6 OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07) TTCGACTTGGCTGCCTGTTTC 0.602000 T C15orf55 lethal midline carcinoma of young people 40 96 0 0 1 0 0 FAM117B 150864 broad.mit.edu 37 2 203560637 203560637 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:203560637C>T ENST00000392238.2 + 2 635 c.635C>T c.(634-636)tCc>tTc p.S212F FAM117B_ENST00000303116.6_5'UTR Q6P1L5 F117B_HUMAN family with sequence similarity 117, member B 212 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 TCAAGCCCCTCCAGTATTATC 0.448000 170 68 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118957035 118957035 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:118957035C>T ENST00000334549.1 + 1 36 c.36C>T c.(34-36)tgC>tgT p.C12C NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 12 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) CCAGGAGATGCTGCCCAGAGG 0.632000 17 44 0 0 1 0 0 SPATA31D5P 347127 broad.mit.edu 37 9 84530842 84530842 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:84530842C>T ENST00000527857.1 + 0 864 NR_026851.1 CACCCTATCCCAAGATATGAA 0.483000 4 31 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53014938 53014938 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:53014938C>T ENST00000421239.2 + 6 1548 c.1304C>T c.(1303-1305)gCt>gTt p.A435V CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 210 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) TGTGGTAAGGCTTTTATTCAT 0.378000 18 50 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151860809 151860809 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:151860809G>A ENST00000355193.2 - 43 10071 c.9853C>T c.(9853-9855)Cag>Tag p.Q3285* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q3285* lysine (K)-specific methyltransferase 2C GGCTGGGGCTGGACACTGGGC 0.532000 9 32 0 0 1 0 0 PCED1B 91523 broad.mit.edu 37 12 47629874 47629874 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:47629874C>T ENST00000546455.1 + 4 1759 c.1028C>T c.(1027-1029)tCc>tTc p.S343F PCED1B_ENST00000432328.1_Missense_Mutation_p.S343F PC-esterase domain containing 1B p.S343F(1) GCCTGTTTTTCCTCAGACCAT 0.542000 48 112 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140572902 140572902 + Silent SNP C C T rs150690310 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140572902C>T ENST00000239446.4 + 1 961 c.777C>T c.(775-777)ttC>ttT p.F259F NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 259 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.F259F(1) breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCATTGGGTTCCTTATTGTTA 0.463000 19 48 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81199005 81199005 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:81199005G>A ENST00000394685.3 + 13 1832 c.1411_splice c.e13-1 p.G471_splice RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000356249.5_Splice_Site_p.G471_splice|KIAA1199_ENST00000220244.3_Splice_Site_p.G471_splice|RP11-351M8.2_ENST00000560873.1_RNA Q8WUJ3 K1199_HUMAN KIAA1199 471 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 CTGCCCTAGGGAAACCAATGT 0.587000 22 63 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44278618 44278618 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:44278618A>T ENST00000262888.3 - 3 804 c.409T>A c.(409-411)Tcc>Acc p.S137T NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 137 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) GGCTGCGGGGAGGTCAGCGGC 0.736000 OREG0025535 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 0 0 1 0 0 BEND3 57673 broad.mit.edu 37 6 107391735 107391735 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:107391735G>A ENST00000429433.2 - 5 1309 c.660C>T c.(658-660)ctC>ctT p.L220L BEND3_ENST00000369042.1_Silent_p.L220L NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 220 central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 CCTCAAGGGAGAGCAGGTCCA 0.567000 9 24 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50157982 50157982 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:50157982C>T ENST00000360565.3 + 9 3597 c.3473C>T c.(3472-3474)cCc>cTc p.P1158L NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 1158 mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) TTGGGTCTGCCCCCTGGCCCC 0.672000 28 54 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372419 126372419 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:126372419G>A ENST00000394329.3 + 9 10261 c.10248G>A c.(10246-10248)ggG>ggA p.G3416G FAT4_ENST00000335110.5_Silent_p.G1714G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3416 Cadherin 33. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCAGTGAAGGGGTCCCAATAG 0.458000 35 92 0 0 1 0 0 UBE4B 10277 broad.mit.edu 37 1 10240011 10240011 + Missense_Mutation SNP C C G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:10240011C>G ENST00000377157.3 + 27 4244 c.3183C>G c.(3181-3183)caC>caG p.H1061Q UBE4B_ENST00000253251.8_Missense_Mutation_p.H1173Q|UBE4B_ENST00000343090.6_Missense_Mutation_p.H1302Q NM_006048.4 NP_006039.2 O95155 UBE4B_HUMAN ubiquitination factor E4B 1302 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 48 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) ACAGCGATCACTAAACCGTTC 0.547000 22 56 0 0 1 0 0 FLG2 388698 broad.mit.edu 37 1 152328704 152328704 + Nonsense_Mutation SNP G G A rs143786396 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:152328704G>A ENST00000388718.5 - 3 1630 c.1558C>T c.(1558-1560)Cag>Tag p.Q520* FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 520 Ser-rich. calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCATGCTGTCCAAAACCA 0.512000 66 150 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224085 248224085 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:248224085C>T ENST00000359959.3 + 1 102 c.102C>T c.(100-102)ttC>ttT p.F34F OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) TTTTCATTTTCCTAATGGCTC 0.388000 68 196 0 0 1 0 0 KRT26 353288 broad.mit.edu 37 17 38926062 38926062 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:38926062C>T ENST00000335552.4 - 5 961 c.913G>A c.(913-915)Gaa>Aaa p.E305K NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 305 Coil 2.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) CGTTTTAATTCGGTCAGCTCA 0.448000 34 55 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89953787 89953787 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:89953787G>A ENST00000405460.2 + 21 4540 c.4444G>A c.(4444-4446)Gat>Aat p.D1482N NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1482 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TCTGATGCAGGATGTGAGGTC 0.418000 37 60 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72970443 72970443 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:72970443G>A ENST00000264839.7 + 19 3089 c.3089G>A c.(3088-3090)cGa>cAa p.R1030Q RIMS1_ENST00000518273.1_Missense_Mutation_p.R1030Q|RIMS1_ENST00000517960.1_Missense_Mutation_p.R1029Q|RIMS1_ENST00000348717.5_Missense_Mutation_p.R1029Q|RIMS1_ENST00000517827.1_Missense_Mutation_p.R489Q|RIMS1_ENST00000425662.2_Missense_Mutation_p.R423Q|RIMS1_ENST00000491071.2_Missense_Mutation_p.R1030Q|RIMS1_ENST00000538414.1_Missense_Mutation_p.R9Q|RIMS1_ENST00000523963.1_Missense_Mutation_p.R504Q|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.R503Q|RIMS1_ENST00000521978.1_Missense_Mutation_p.R1030Q|RIMS1_ENST00000520567.1_Missense_Mutation_p.R1029Q Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1030 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) AAACGAGGACGAAGTGCAGAA 0.443000 5 13 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675421 100675421 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:100675421G>A ENST00000306151.4 + 3 788 c.724G>A c.(724-726)Gaa>Aaa p.E242K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 242 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCCTGTTGAAATCAGCAC 0.493000 47 112 0 0 1 0 0 OR5H6 79295 broad.mit.edu 37 3 97983449 97983449 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:97983449G>A ENST00000383696.2 + 1 362 c.321G>A c.(319-321)atG>atA p.M107I RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 107 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 AGAGTAAGATGATATCTCTCT 0.398000 32 65 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43607014 43607014 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:43607014G>A ENST00000360835.3 - 18 2423 c.2297C>T c.(2296-2298)cCc>cTc p.P766L NM_173050.3 NP_766638.2 Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 766 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) GCCAAACTCGGGCTGGTAGGT 0.637000 17 28 0 0 1 0 0 MIR520A 574467 broad.mit.edu 37 19 54194197 54194197 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:54194197C>T ENST00000384862.1 + 0 63 NR_030189.1 AAAGTGCTTCCCTTTGGACTG 0.453000 21 72 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55839143 55839143 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:55839143C>T ENST00000373965.2 - 18 2454 c.2060G>A c.(2059-2061)aGc>aAc p.S687N PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.S687N|PCDH15_ENST00000395430.1_Missense_Mutation_p.S680N|PCDH15_ENST00000414778.1_Missense_Mutation_p.S685N|PCDH15_ENST00000373957.3_Missense_Mutation_p.S658N|PCDH15_ENST00000320301.6_Missense_Mutation_p.S680N|PCDH15_ENST00000395438.1_Missense_Mutation_p.S680N|PCDH15_ENST00000395446.1_Missense_Mutation_p.S680N|PCDH15_ENST00000373955.1_Missense_Mutation_p.S680N|PCDH15_ENST00000361849.3_Missense_Mutation_p.S680N|PCDH15_ENST00000395432.2_Missense_Mutation_p.S643N|PCDH15_ENST00000437009.1_Missense_Mutation_p.S609N|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.S291N|PCDH15_ENST00000395433.1_Missense_Mutation_p.S658N NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 680 Cadherin 6. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) GCGATCAGTGCTTTCCCTGTC 0.428000 HNSCC(58;0.16) 60 179 0 0 1 0 0 DPYSL4 10570 broad.mit.edu 37 10 134017385 134017385 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:134017385C>T ENST00000338492.4 + 13 1745 c.1581C>T c.(1579-1581)tcC>tcT p.S527S DPYSL4_ENST00000368627.1_Silent_p.S367S|DPYSL4_ENST00000368629.1_Silent_p.S367S NM_006426.2 NP_006417.2 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 527 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GCAAGATCTCCGTCCCTCCTG 0.677000 29 63 0 0 1 0 0 LELP1 149018 broad.mit.edu 37 1 153177437 153177437 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:153177437C>T ENST00000368747.1 + 2 364 c.254C>T c.(253-255)tCc>tTc p.S85F NM_001010857.1 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 85 Cys/Pro-rich. NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGCCCTTCATCCTGCCCACAT 0.642000 7 23 0 0 1 0 0 ZNF679 168417 broad.mit.edu 37 7 63709527 63709527 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:63709527G>A ENST00000421025.1 + 2 301 c.32G>A c.(31-33)cGa>cAa p.R11Q ZNF679_ENST00000255746.4_Missense_Mutation_p.R11Q NM_001159524.1|NM_153363.2 NP_001152996.1|NP_699194.2 Q8IYX0 ZN679_HUMAN zinc finger protein 679 11 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1) 18 CCTGGAAGCCGAGAAATGGTG 0.572000 11 31 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140167200 140167200 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140167200C>T ENST00000504120.2 + 1 1325 c.1325C>T c.(1324-1326)tCc>tTc p.S442F PCDHA1_ENST00000394633.3_Missense_Mutation_p.S442F|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S442F NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCAGGGTGTCCGTGGAGGTG 0.662000 38 78 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039421 11039421 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:11039421C>T ENST00000470054.1 - 0 782 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) TTTTCCAATTCGGTATTCACT 0.279000 5 93 0 0 1 0 0 CADM3 57863 broad.mit.edu 37 1 159170689 159170689 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:159170689G>A ENST00000368125.4 + 9 1331 c.1174G>A c.(1174-1176)Gac>Aac p.D392N CADM3_ENST00000368124.4_Missense_Mutation_p.D426N|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 392 adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) AGGAGGGGACGACAAGAAGGA 0.612000 17 59 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716301 13716301 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:13716301G>A ENST00000279593.3 - 13 4080 c.3871C>T c.(3871-3873)Cag>Tag p.Q1291* NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1291 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) TTCTTCTTCTGGGCCTTGGAA 0.622000 33 82 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21781647 21781647 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:21781647C>T ENST00000328843.6 + 50 8069 c.8038C>T c.(8038-8040)Cca>Tca p.P2680S DNAH11_ENST00000409508.3_Missense_Mutation_p.P2673S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2680 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGCATTTGCTCCATCAATTCT 0.403000 Kartagener syndrome 38 90 0 0 1 0 0 CROCC 9696 broad.mit.edu 37 1 17265526 17265526 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:17265526C>T ENST00000375541.5 + 12 1566 c.1497C>T c.(1495-1497)tcC>tcT p.S499S CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 499 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CGCGGCGCTCCTCGCCCGGCC 0.761000 5 10 0 0 1 0 0 CCDC19 25790 broad.mit.edu 37 1 159856450 159856450 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:159856450G>A ENST00000426543.2 - 6 818 c.363C>T c.(361-363)atC>atT p.I121I CCDC19_ENST00000368099.4_Silent_p.I206I|CCDC19_ENST00000476696.1_5'UTR Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 206 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) GGGCATCCCGGATGGCATGGC 0.473000 51 110 0 0 1 0 0 SPATA22 84690 broad.mit.edu 37 17 3343620 3343620 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:3343620G>A ENST00000573128.1 - 9 1396 c.913C>T c.(913-915)Ccg>Tcg p.P305S SPATA22_ENST00000397168.3_Missense_Mutation_p.P305S|SPATA22_ENST00000575375.1_Missense_Mutation_p.P305S|SPATA22_ENST00000541913.1_Missense_Mutation_p.P289S|SPATA22_ENST00000355380.4_Missense_Mutation_p.P262S|SPATA22_ENST00000572969.1_Missense_Mutation_p.P305S|SPATA22_ENST00000268981.5_3'UTR Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 305 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 ATCAGTCTCGGAAGTTCACGA 0.333000 14 36 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 51994916 51994916 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:51994916G>A ENST00000291707.3 - 8 1822 c.1767C>T c.(1765-1767)tcC>tcT p.S589S SIGLEC12_ENST00000598614.1_Silent_p.S471S NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 589 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGTTGATCTCGGAGTACTCAT 0.542000 27 61 0 0 1 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356428 22356428 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:22356428C>T ENST00000390437.2 + 0 191 GAGCAGAATTCTGGACCCCTC 0.512000 13 36 0 0 1 0 0 CCDC70 83446 broad.mit.edu 37 13 52440151 52440151 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:52440151G>A ENST00000242819.4 + 2 933 c.637G>A c.(637-639)Gaa>Aaa p.E213K NM_031290.2 NP_112580.2 Q6NSX1 CCD70_HUMAN coiled-coil domain containing 70 213 extracellular region|plasma membrane breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1) 15 Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;2.4e-08) GCAGATGCTCGAAGATGGGCC 0.607000 18 43 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55128600 55128600 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:55128600C>T ENST00000370862.3 + 4 1078 c.742C>T c.(742-744)Cgc>Tgc p.R248C NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 248 feeding behavior integral to plasma membrane neuropeptide receptor activity p.R248C(1) 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) GCAAATATTTCGCAAACTCTG 0.373000 10 15 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115818872 115818872 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:115818872C>T ENST00000374227.3 - 1 124 c.97G>A c.(97-99)Gag>Aag p.E33K ZFP37_ENST00000555206.1_Missense_Mutation_p.E33K|ZFP37_ENST00000553380.1_Missense_Mutation_p.E33K Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 33 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACAGCCATCTCCAGTGGTCGC 0.622000 41 135 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 124979306 124979306 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:124979306C>T ENST00000431078.1 + 2 471 c.107C>T c.(106-108)tCc>tTc p.S36F NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 36 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) CCACTAGCATCCCTGCTCTCT 0.458000 9 5 0 0 1 0 0 RGMA 56963 broad.mit.edu 37 15 93595421 93595421 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:93595421C>T ENST00000329082.7 - 3 718 c.447G>A c.(445-447)aaG>aaA p.K149K RGMA_ENST00000557301.1_Silent_p.K157K|RGMA_ENST00000556087.1_Silent_p.K133K|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000425933.2_Silent_p.K133K|RGMA_ENST00000556658.1_Silent_p.K40K|RGMA_ENST00000542321.2_Silent_p.K133K|RGMA_ENST00000543599.1_Silent_p.K133K|RGMA_ENST00000538818.1_Silent_p.K40K NM_020211.2 NP_064596.2 Q96B86 RGMA_HUMAN repulsive guidance molecule family member a 149 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 9 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) TGTGAAAGCTCTTCTCGTAAT 0.652000 16 24 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3240320 3240320 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:3240320C>T ENST00000217939.6 - 5 3560 c.3406G>A c.(3406-3408)Gtt>Att p.V1136I NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1136 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) GACGGAGCAACTTTTTGCCTT 0.512000 28 17 0 0 1 0 0 IRF5 3663 broad.mit.edu 37 7 128587827 128587827 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:128587827C>T ENST00000402030.2 + 7 856 c.784C>T c.(784-786)Cgg>Tgg p.R262W IRF5_ENST00000473745.1_Missense_Mutation_p.R262W|IRF5_ENST00000357234.5_Missense_Mutation_p.R278W|IRF5_ENST00000249375.4_Missense_Mutation_p.R262W|IRF5_ENST00000477535.1_Missense_Mutation_p.R176W NM_001098629.1|NM_001098630.1 NP_001092099.1|NP_001092100.1 Q13568 IRF5_HUMAN interferon regulatory factor 5 262 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1) 15 GCGGCCACCCCGGGCCCTCAC 0.657000 7 10 0 0 1 0 0 PIK3R3 8503 broad.mit.edu 37 1 46521614 46521614 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:46521614G>A ENST00000262741.5 - 7 1483 c.794C>T c.(793-795)tCa>tTa p.S265L PIK3R3_ENST00000423209.1_Intron|PIK3R3_ENST00000540385.1_Missense_Mutation_p.S311L|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000372006.1_Missense_Mutation_p.S265L|PIK3R3_ENST00000420542.1_Missense_Mutation_p.S265L|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000488808.1_5'UTR NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 (gamma) 265 insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding endometrium(1)|large_intestine(5)|lung(6)|prostate(2) 14 Acute lymphoblastic leukemia(166;0.155) ACCCAGACGTGATTTCAATTT 0.348000 6 26 0 0 1 0 0 BBS7 55212 broad.mit.edu 37 4 122760816 122760816 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:122760816G>A ENST00000264499.4 - 13 1524 c.1341C>T c.(1339-1341)tgC>tgT p.C447C BBS7_ENST00000506636.1_Silent_p.C447C NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 447 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 TATCTGCCTGGCACCGATAAG 0.368000 Bardet-Biedl syndrome 3 18 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133218876 133218876 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:133218876G>A ENST00000320574.5 - 38 5103 c.5060C>T c.(5059-5061)tCc>tTc p.S1687F POLE_ENST00000535270.1_Missense_Mutation_p.S1660F NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1687 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GGCTGTAGGGGACAGCCAGAG 0.572000 DNA polymerases (catalytic subunits) 19 40 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29556163 29556163 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:29556163C>T ENST00000358273.4 + 21 2913 c.2530C>T c.(2530-2532)Ctt>Ttt p.L844F NF1_ENST00000356175.3_Missense_Mutation_p.L844F NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 844 L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic). 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.?(4) 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) GACTGGCTTCCTTTGTGCCCT 0.517000 """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) 25 13 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891646 18891646 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:18891646G>A ENST00000317658.3 + 1 602 c.444G>A c.(442-444)aaG>aaA p.K148K NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 148 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TCAAAAGTAAGGAGTACTTGA 0.383000 16 40 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190203543 190203543 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:190203543G>A ENST00000367462.3 - 5 914 c.683C>T c.(682-684)tCt>tTt p.S228F FAM5C_ENST00000534846.1_Missense_Mutation_p.S126F|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 228 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) AACCAGAACAGAACTGACAGA 0.383000 16 34 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105179175 105179175 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:105179175C>T ENST00000428173.2 + 21 3819 c.3516C>T c.(3514-3516)ttC>ttT p.F1172F NRK_ENST00000243300.9_Silent_p.F1171F Q7Z2Y5 NRK_HUMAN Nik related kinase 1171 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 ACGCTGGATTCGTAGAAGTAC 0.373000 HNSCC(51;0.14) 50 21 0 0 1 0 0 MYO7A 4647 broad.mit.edu 37 11 76853860 76853860 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:76853860G>A ENST00000409709.3 + 3 396 c.124G>A c.(124-126)Gaa>Aaa p.E42K MYO7A_ENST00000409619.2_Missense_Mutation_p.E31K|MYO7A_ENST00000458637.2_Missense_Mutation_p.E42K|MYO7A_ENST00000409893.1_Missense_Mutation_p.E42K NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 42 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GGTGGATGATGAAGACAATGT 0.597000 5 7 0 0 1 0 0 TAS2R7 50837 broad.mit.edu 37 12 10954564 10954564 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:10954564G>A ENST00000240687.2 - 1 662 c.606C>T c.(604-606)ttC>ttT p.F202F NM_023919.2 NP_076408.1 Q9NYW3 TA2R7_HUMAN taste receptor, type 2, member 7 202 sensory perception of taste integral to membrane taste receptor activity kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3) 10 GGATCAAGAGGAAAAAGGACA 0.502000 3 21 0 0 1 0 0 KRT6A 3853 broad.mit.edu 37 12 52886893 52886893 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:52886893C>T ENST00000330722.6 - 1 148 c.80G>A c.(79-81)gGg>gAg p.G27E NM_005554.3 NP_005545.1 P02538 K2C6A_HUMAN keratin 6A 27 Head. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(357;0.189) GCGGCTGACCCCAGGGAGCCT 0.657000 20 65 0 0 1 0 0 NPRL3 8131 broad.mit.edu 37 16 160569 160569 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:160569G>A ENST00000399953.3 - 6 985 c.583C>T c.(583-585)Ctg>Ttg p.L195L NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Silent_p.L16L NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1 NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1 Q12980 NPRL3_HUMAN nitrogen permease regulator-like 3 (S. cerevisiae) 195 protein binding endometrium(1)|large_intestine(3)|ovary(2) 6 CACTTGGGCAGGATGTGATGG 0.522000 7 17 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83159046 83159046 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:83159046G>A ENST00000566620.1 + 4 713 c.423G>A c.(421-423)gtG>gtA p.V141V CDH13_ENST00000446376.2_Silent_p.V141V|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.V188V|CDH13_ENST00000431540.3_Silent_p.V141V|CDH13_ENST00000428848.3_Intron|CDH13_ENST00000565636.1_Silent_p.V141V NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 141 Cadherin 1. adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) GGTCCATTGTGGTATCTCCCA 0.358000 8 22 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169812116 169812116 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:169812116G>A ENST00000335742.7 + 12 2891 c.1534G>A c.(1534-1536)Gat>Aat p.D512N PALLD_ENST00000505667.1_Missense_Mutation_p.D670N|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.D670N|PALLD_ENST00000512127.1_Missense_Mutation_p.D288N|PALLD_ENST00000507735.1_Missense_Mutation_p.D183N Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 894 Ig-like C2-type 2. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) AATAGCCTCCGATGAGGAAAT 0.448000 Pancreatic Cancer, Familial Clustering of 16 68 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189526126 189526126 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:189526126C>T ENST00000264731.3 + 4 479 c.390C>T c.(388-390)tcC>tcT p.S130S TP63_ENST00000440651.2_Silent_p.S130S|TP63_ENST00000437221.1_Silent_p.S36S|TP63_ENST00000392463.2_Silent_p.S36S|TP63_ENST00000449992.1_Intron|TP63_ENST00000392461.3_Silent_p.S36S|TP63_ENST00000418709.2_Silent_p.S130S|TP63_ENST00000392460.3_Silent_p.S130S|TP63_ENST00000354600.5_Silent_p.S36S|TP63_ENST00000456148.1_Silent_p.S36S|TP63_ENST00000320472.5_Silent_p.S130S|TP63_ENST00000382063.4_Intron NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 130 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) GCTCCTCGTCCACCAGTCCCT 0.602000 HNSCC(45;0.13) 20 45 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153884242 153884242 + Missense_Mutation SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:153884242C>A ENST00000511601.1 + 8 1177 c.989C>A c.(988-990)gCa>gAa p.A330E FHDC1_ENST00000260008.3_Missense_Mutation_p.A330E Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 330 FH2. actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GACACAAAAGCAAACAAACCT 0.408000 25 75 2.12542e-12 2.15997e-12 1 1 0 NEFH 4744 broad.mit.edu 37 22 29881793 29881793 + Missense_Mutation SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:29881793C>A ENST00000310624.6 + 3 1198 c.1165C>A c.(1165-1167)Ctc>Atc p.L389I NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 389 Coil 2B.|Rod. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 CCAGGACCTGCTCAATGTCAA 0.557000 17 40 1.96292e-10 1.99274e-10 1 1 0 NCAPD3 23310 broad.mit.edu 37 11 134076535 134076535 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:134076535G>A ENST00000534548.2 - 8 1039 c.975C>T c.(973-975)tcC>tcT p.S325S NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 325 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) TGATGACTTGGGAGGTAACAG 0.463000 30 66 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503688 140503688 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140503688C>T ENST00000194152.1 + 1 2108 c.2108C>T c.(2107-2109)tCg>tTg p.S703L NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 703 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) TTCCTCTTCTCGGTGCTCCTG 0.706000 42 132 0 0 1 0 0 ITGAD 3681 broad.mit.edu 37 16 31422076 31422076 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:31422076C>T ENST00000389202.2 + 12 1282 c.1233C>T c.(1231-1233)gcC>gcT p.A411A NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 411 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CCGAGCTAGCCCTGTGGAAGG 0.662000 11 51 0 0 1 0 0 GDF5 8200 broad.mit.edu 37 20 34022575 34022575 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:34022575C>T ENST00000374372.1 - 4 1141 c.638G>A c.(637-639)cGa>cAa p.R213Q GDF5OS_ENST00000374375.1_Missense_Mutation_p.R207W|GDF5_ENST00000374369.3_Missense_Mutation_p.R213Q P43026 GDF5_HUMAN growth differentiation factor 5 213 cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3) 26 Lung NSC(9;0.00642)|all_lung(11;0.0094) BRCA - Breast invasive adenocarcinoma(18;0.00663) CACGGGACCTCGGTCATCTAG 0.612000 36 128 0 0 1 0 0 GPLD1 2822 broad.mit.edu 37 6 24450048 24450048 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:24450048G>A ENST00000230036.1 - 15 1525 c.1415C>T c.(1414-1416)cCc>cTc p.P472L NM_001503.3 NP_001494.2 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific phospholipase D1 472 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 GCCCACCGAGGGAGCTCCCAC 0.612000 24 60 0 0 1 0 0 OR5P2 120065 broad.mit.edu 37 11 7817623 7817623 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:7817623C>T ENST00000329434.2 - 1 897 c.867G>A c.(865-867)agG>agA p.R289R RP11-35J10.5_ENST00000527565.1_lincRNA NM_153444.1 NP_703145.1 Q8WZ92 OR5P2_HUMAN olfactory receptor, family 5, subfamily P, member 2 289 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4) 22 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCTCCTTGTTCCTGAGGCTGT 0.403000 26 70 0 0 1 0 0 CLIC5 53405 broad.mit.edu 37 6 45917016 45917016 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:45917016C>T ENST00000185206.6 - 3 905 c.753G>A c.(751-753)ctG>ctA p.L251L CLIC5_ENST00000544153.1_Silent_p.L92L|CLIC5_ENST00000339561.6_Silent_p.L92L NM_001114086.1 NP_001107558.1 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 251 female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 13 AGGTCTCCTCCAGGAACTCCT 0.532000 22 158 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53757600 53757600 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:53757600G>A ENST00000288139.3 + 14 1984 c.1866G>A c.(1864-1866)acG>acA p.T622T CACNA1D_ENST00000350061.5_Silent_p.T602T|CACNA1D_ENST00000422281.2_Silent_p.T602T NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 602 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) TCACTGAGACGATCTTGGTGG 0.473000 57 191 0 0 1 0 0 EHBP1 23301 broad.mit.edu 37 2 63223784 63223784 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:63223784T>A ENST00000263991.5 + 21 3681 c.3199T>A c.(3199-3201)Ttc>Atc p.F1067I EHBP1_ENST00000405015.3_Missense_Mutation_p.F996I|EHBP1_ENST00000405289.1_Missense_Mutation_p.F1032I|EHBP1_ENST00000431489.1_Missense_Mutation_p.F996I|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000354487.3_Missense_Mutation_p.F1032I NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 1067 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) ACAGAAAGGGTTCAAAGACAC 0.418000 13 44 0 0 1 0 0 ACAA2 10449 broad.mit.edu 37 18 47320670 47320670 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:47320670G>A ENST00000285093.10 - 5 1032 c.557C>T c.(556-558)tCa>tTa p.S186L ACAA2_ENST00000589432.1_Missense_Mutation_p.S131L|ACAA2_ENST00000587994.1_Missense_Mutation_p.S183L NM_006111.2 NP_006102.2 P42765 THIM_HUMAN acetyl-CoA acyltransferase 2 186 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding large_intestine(2)|lung(7)|ovary(1) 10 TCTCTGCTGTGACTGCAGGGC 0.373000 9 33 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36123223 36123223 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:36123223C>T ENST00000249044.2 + 3 1108 c.1108C>T c.(1108-1110)Cgt>Tgt p.R370C NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 370 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 TCGAGGATCCCGTGTGGTTAA 0.607000 19 83 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45153805 45153805 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:45153805G>A ENST00000296129.1 - 3 559 c.425C>T c.(424-426)tCc>tTc p.S142F CDCP1_ENST00000425231.2_Missense_Mutation_p.S142F NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 142 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) GCGAGGGATGGAAAACTGCAG 0.557000 47 146 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39884805 39884805 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:39884805G>A ENST00000260356.5 + 17 2734 c.2569G>A c.(2569-2571)Gac>Aac p.D857N NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 857 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) AGATACCTGTGACAACAATCA 0.433000 6 21 0 0 1 0 0 INTS10 55174 broad.mit.edu 37 8 19679948 19679948 + Splice_Site SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:19679948A>T ENST00000397977.3 + 5 839 c.e5-1 INTS10_ENST00000521758.1_Splice_Site NM_018142.2 NP_060612.2 Q9NVR2 INT10_HUMAN integrator complex subunit 10 snRNA processing integrator complex protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 20 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) GTTTTGAAATAGGTTGGCCTT 0.318000 6 23 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54759954 54759954 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:54759954G>A ENST00000450632.1 - 4 657 c.580C>T c.(580-582)Cct>Tct p.P194S LILRB5_ENST00000449561.2_Missense_Mutation_p.P203S|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Missense_Mutation_p.P203S O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 203 Ig-like C2-type 2. cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CACACCTGAGGGTTTTTCCTG 0.532000 19 66 0 0 1 0 0 UGT2B4 7363 broad.mit.edu 37 4 70360875 70360875 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:70360875G>A ENST00000305107.6 - 1 751 c.705C>T c.(703-705)ttC>ttT p.F235F UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Silent_p.F235F|UGT2B4_ENST00000381096.3_Silent_p.F99F NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 235 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 CTTCACTGTAGAACTGATCCC 0.328000 8 40 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76126736 76126736 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:76126736C>T ENST00000324432.5 + 7 1602 c.1092C>T c.(1090-1092)tcC>tcT p.S364S DTX2_ENST00000430490.2_Silent_p.S364S|DTX2_ENST00000446600.1_Silent_p.S273S|DTX2_ENST00000446820.2_Intron|DTX2_ENST00000413936.2_Silent_p.S364S|DTX2_ENST00000307569.8_Intron NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 364 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 CTCCCGCCTCCCGTCTGGCTT 0.557000 11 64 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140223227 140223227 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140223227C>T ENST00000531613.1 + 1 2321 c.2321C>T c.(2320-2322)cCc>cTc p.P774L PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P774L|PCDHA6_ENST00000527624.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCTTCAGCCCCTGCCTTCCT 0.522000 15 34 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189582106 189582106 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:189582106G>A ENST00000264731.3 + 5 754 c.665G>A c.(664-666)gGa>gAa p.G222E TP63_ENST00000440651.2_Missense_Mutation_p.G222E|TP63_ENST00000437221.1_Missense_Mutation_p.G128E|TP63_ENST00000392463.2_Missense_Mutation_p.G128E|TP63_ENST00000449992.1_Missense_Mutation_p.G43E|TP63_ENST00000392461.3_Missense_Mutation_p.G128E|TP63_ENST00000418709.2_Missense_Mutation_p.G222E|TP63_ENST00000392460.3_Missense_Mutation_p.G222E|TP63_ENST00000354600.5_Missense_Mutation_p.G128E|TP63_ENST00000456148.1_Missense_Mutation_p.G128E|TP63_ENST00000320472.5_Missense_Mutation_p.G222E|TP63_ENST00000382063.4_Missense_Mutation_p.G137E NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 222 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) CCTCCTCAGGGAGCTGTTATC 0.527000 HNSCC(45;0.13) 26 99 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96239835 96239835 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:96239835C>T ENST00000347108.3 - 18 2608 c.2176G>A c.(2176-2178)Gga>Aga p.G726R DZIP1_ENST00000376829.2_Missense_Mutation_p.G726R|DZIP1_ENST00000361156.3_Missense_Mutation_p.G707R|DZIP1_ENST00000361396.2_Missense_Mutation_p.G707R Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 726 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) ATTTCGCTTCCCTCGGTCCCG 0.557000 35 52 0 0 1 0 0 EZH2 2146 broad.mit.edu 37 7 148514333 148514333 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:148514333C>T ENST00000320356.2 - 11 1512 c.1391G>A c.(1390-1392)gGg>gAg p.G464E EZH2_ENST00000476773.1_Missense_Mutation_p.G450E|EZH2_ENST00000460911.1_Missense_Mutation_p.G459E|EZH2_ENST00000483967.1_Missense_Mutation_p.G450E|EZH2_ENST00000478654.1_Missense_Mutation_p.G450E|EZH2_ENST00000350995.2_Missense_Mutation_p.G420E|EZH2_ENST00000541220.1_Missense_Mutation_p.G450E NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 459 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TGTTTTGGTCCCAATTAACCT 0.388000 Mis DLBCL 4 19 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3667190 3667190 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:3667190G>A ENST00000263087.4 - 3 318 c.220C>T c.(220-222)Cag>Tag p.Q74* NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 74 cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) ATTTCATCCTGGACAAGGGAA 0.567000 14 56 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92345629 92345629 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:92345629C>T ENST00000377067.3 + 3 886 c.514C>T c.(514-516)Cct>Tct p.P172S NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 172 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding p.P172S(1) 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) CAGTCTTTTTCCTCTGGTCTA 0.458000 33 71 0 0 1 0 0 CCNA1 8900 broad.mit.edu 37 13 37011773 37011773 + Missense_Mutation SNP C C G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:37011773C>G ENST00000418263.1 + 3 652 c.302C>G c.(301-303)aCa>aGa p.T101R CCNA1_ENST00000255465.4_Missense_Mutation_p.T102R|CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000440264.1_Missense_Mutation_p.T58R|CCNA1_ENST00000449823.1_Missense_Mutation_p.T58R NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 102 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) TAGGGGATCACAAGAATCAGG 0.483000 27 93 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136562369 136562369 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:136562369C>T ENST00000264162.2 - 10 4442 c.4432G>A c.(4432-4434)Gat>Aat p.D1478N NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1478 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AGCAGTGTATCGATGAGCCTC 0.587000 18 26 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511350 169511350 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:169511350C>T ENST00000367796.3 - 13 3194 c.2993G>A c.(2992-2994)gGa>gAa p.G998E F5_ENST00000367797.3_Missense_Mutation_p.G993E P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 993 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ACTCTGCTTTCCAGGCTTGTT 0.473000 47 110 0 0 1 0 0 GTSF1L 149699 broad.mit.edu 37 20 42355105 42355105 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:42355105G>A ENST00000373003.1 - 1 533 c.230C>T c.(229-231)cCt>cTt p.P77L GTSF1L_ENST00000373005.2_Missense_Mutation_p.P77L NM_001008901.1|NM_176791.3 NP_001008901.1|NP_789761.1 Q9H1H1 GTSFL_HUMAN gametocyte specific factor 1-like 77 metal ion binding endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 5 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GACTTTCAGAGGGTTCTCGGT 0.532000 34 45 0 0 1 0 0 SMAP2 64744 broad.mit.edu 37 1 40879859 40879859 + Missense_Mutation SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:40879859C>A ENST00000539317.1 + 6 471 c.278C>A c.(277-279)cCt>cAt p.P93H SMAP2_ENST00000487871.1_3'UTR NM_001198980.1 NP_001185909.1 Q8WU79 SMAP2_HUMAN small ArfGAP2 173 Arf-GAP. regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1) 24 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) CCACAGCTACCTCGGAAAAGC 0.418000 8 31 3.09899e-07 3.13457e-07 1 1 0 TTN 7273 broad.mit.edu 37 2 179549115 179549115 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:179549115G>A ENST00000589042.1 - 132 32888 c.32664C>T c.(32662-32664)acC>acT p.T10888T TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T9644T|TTN_ENST00000591111.1_Silent_p.T10571T|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10571 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) TTTCTTCCTGGGTAATTTGCA 0.388000 22 26 0 0 1 0 0 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48897021 48897021 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:48897021A>G ENST00000394754.1 + 9 3365 c.3251A>G c.(3250-3252)gAt>gGt p.D1084G STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.D1084G|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.D1084G|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.D1084G|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.D1037G|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.D346G|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.D380G NM_172311.2 NP_758515.1 B7ZL16 B7ZL16_HUMAN 1037 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) GACGGGGGAGATCTGAAGGTA 0.393000 9 35 0 0 1 0 0 FZD8 8325 broad.mit.edu 37 10 35929907 35929907 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:35929907A>G ENST00000374694.1 - 1 455 c.451T>C c.(451-453)Tac>Cac p.Y151H NM_031866.2 NP_114072.1 Q9H461 FZD8_HUMAN frizzled family receptor 8 151 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 11 GTGCGGTTGTAGTCCATGCAC 0.766000 4 6 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103236447 103236447 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:103236447C>T ENST00000233969.2 + 1 282 c.140C>T c.(139-141)tCc>tTc p.S47F NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 47 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 GGCACCAGTTCCAGCCCGCCT 0.687000 8 18 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60688835 60688835 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:60688835G>A ENST00000335712.6 - 4 1439 c.1212C>T c.(1210-1212)ccC>ccT p.P404P BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Silent_p.P73P|BCL11A_ENST00000356842.4_Silent_p.P404P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.P370P|BCL11A_ENST00000358510.4_Silent_p.P370P NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 404 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) TGCACTTGTAGGGCTTCTCGC 0.597000 T IGH@ B-CLL 128 309 0 0 1 0 0 ABI3BP 25890 broad.mit.edu 37 3 100515259 100515259 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:100515259C>T ENST00000471714.1 - 52 3941 c.3832G>A c.(3832-3834)Gaa>Aaa p.E1278K ABI3BP_ENST00000383691.4_Missense_Mutation_p.E555K|ABI3BP_ENST00000284322.5_Missense_Mutation_p.E601K Q7Z7G0 TARSH_HUMAN ABI family, member 3 (NESH) binding protein 601 extracellular space central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 50 TTACCAGGTTCGCTCTGAGAG 0.318000 11 28 0 0 1 0 0 OR56A4 120793 broad.mit.edu 37 11 6023579 6023579 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:6023579A>T ENST00000330728.4 - 1 845 c.800T>A c.(799-801)aTc>aAc p.I267N NM_001005179.2 NP_001005179.2 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, member 4 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 32 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AACAATAAGGATAAGATCAGA 0.468000 5 22 0 0 1 0 0 NUBP1 4682 broad.mit.edu 37 16 10851854 10851854 + Silent SNP C C T rs139180704 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:10851854C>T ENST00000283027.5 + 7 595 c.576C>T c.(574-576)atC>atT p.I192I NUBP1_ENST00000571790.1_3'UTR|NUBP1_ENST00000433392.2_Silent_p.I181I NM_002484.2 NP_002475.2 P53384 NUBP1_HUMAN nucleotide binding protein 1 192 cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly cytosol 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding large_intestine(2)|lung(3)|ovary(1)|skin(4) 10 CAGCACACATCGATGGAGCAG 0.587000 19 37 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75078435 75078435 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:75078435G>A ENST00000326665.5 - 9 1277 c.1059C>T c.(1057-1059)ttC>ttT p.F353F RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Silent_p.F156F NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 353 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 TCCCATTCAGGAAAAAGGTGA 0.423000 14 37 0 0 1 0 0 IQGAP2 10788 broad.mit.edu 37 5 75960883 75960883 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:75960883G>A ENST00000274364.6 + 22 2859 c.2562G>A c.(2560-2562)aaG>aaA p.K854K IQGAP2_ENST00000502745.1_Silent_p.K350K|IQGAP2_ENST00000379730.3_Silent_p.K356K|IQGAP2_ENST00000396234.3_Silent_p.K350K NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 854 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGCTGAACAAGAAAAAAGGAG 0.328000 7 21 0 0 1 0 0 LYG2 254773 broad.mit.edu 37 2 99861889 99861889 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:99861889C>T ENST00000409679.1 - 4 361 c.217G>A c.(217-219)Gat>Aat p.D73N LYG2_ENST00000409238.1_Missense_Mutation_p.D73N|LYG2_ENST00000333017.2_Missense_Mutation_p.D73N Q86SG7 LYG2_HUMAN lysozyme G-like 2 73 cell wall macromolecule catabolic process|peptidoglycan catabolic process extracellular region lysozyme activity p.D73N(1) large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1) 12 GCCCTCAAATCCATCTCAGCA 0.488000 37 32 0 0 1 0 0 NPY4R 5540 broad.mit.edu 37 10 47087479 47087479 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:47087479C>T ENST00000374312.1 + 3 1115 c.696C>T c.(694-696)gtC>gtT p.V232V NPY4R_ENST00000395716.1_Silent_p.V232V NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 TCATCCTGGTCTGTTATGCAC 0.602000 23 122 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104902005 104902005 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:104902005G>A ENST00000533400.1 - 4 375 c.340C>T c.(340-342)Cct>Tct p.P114S CASP1_ENST00000598974.1_Missense_Mutation_p.P114S|CASP1_ENST00000393136.4_Missense_Mutation_p.P93S|CASP1_ENST00000593315.1_Missense_Mutation_p.P93S|CASP1_ENST00000525825.1_Missense_Mutation_p.P93S|CASP1_ENST00000594519.1_Missense_Mutation_p.P21S|CASP1_ENST00000534497.1_Missense_Mutation_p.P21S|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000446369.1_Missense_Mutation_p.P21S|CASP1_ENST00000528974.1_Missense_Mutation_p.P75S|CASP1_ENST00000436863.3_Missense_Mutation_p.P114S|CASP1_ENST00000526568.1_Missense_Mutation_p.P21S|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000527979.1_Missense_Mutation_p.P77S|CASP1_ENST00000531166.1_Intron NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 114 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) ACTGCCTGAGGAGCTGCAAGA 0.483000 9 15 0 0 1 0 0 SBNO2 22904 broad.mit.edu 37 19 1119128 1119128 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:1119128A>T ENST00000361757.3 - 14 1646 c.1409T>A c.(1408-1410)aTg>aAg p.M470K SBNO2_ENST00000587024.1_Missense_Mutation_p.M470K|SBNO2_ENST00000438103.2_Missense_Mutation_p.M413K NM_014963.2 NP_055778.2 Q9Y2G9 SBNO2_HUMAN strawberry notch homolog 2 (Drosophila) 470 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGACCTTCATGTCCATGGC 0.667000 5 15 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95673862 95673862 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:95673862G>A ENST00000376887.4 - 31 4059 c.3945C>T c.(3943-3945)ccC>ccT p.P1315P ABCC4_ENST00000412704.1_Silent_p.P1268P NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 1315 platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTAAGGTCGAGGGCTGTCCAT 0.383000 13 39 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 31917638 31917638 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:31917638C>T ENST00000396184.3 - 6 641 c.437G>A c.(436-438)cGg>cAg p.R146Q PDE1C_ENST00000396193.1_Missense_Mutation_p.R206Q|PDE1C_ENST00000396191.1_Missense_Mutation_p.R146Q|PDE1C_ENST00000396182.2_Missense_Mutation_p.R146Q|PDE1C_ENST00000321453.7_Missense_Mutation_p.R146Q NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 146 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding p.R146Q(4)|p.R206Q(1) 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) GTTTGATGTCCGTCTATACAT 0.343000 9 23 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10412891 10412891 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:10412891C>T ENST00000226207.5 - 15 1592 c.1498G>A c.(1498-1500)Gag>Aag p.E500K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 500 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 TCCTCCTGCTCCAGCACGAAC 0.483000 34 65 0 0 1 0 0 MSTN 2660 broad.mit.edu 37 2 190922080 190922080 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:190922080C>T ENST00000260950.4 - 3 1164 c.1032G>A c.(1030-1032)aaG>aaA p.K344K C2orf88_ENST00000478197.1_Intron NM_005259.2 NP_005250.1 O14793 GDF8_HUMAN myostatin 344 muscle organ development|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1) 12 OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395) TTGGAGACATCTTTGTGGGAG 0.398000 24 15 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99913410 99913410 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:99913410G>A ENST00000332397.6 + 7 1388 c.1204G>A c.(1204-1206)Gat>Aat p.D402N SPDYE3_ENST00000437326.2_Missense_Mutation_p.D25N NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 402 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 AATCACAGAGGATCCTGTCAT 0.512000 47 122 0 0 1 0 0 WFDC10B 280664 broad.mit.edu 37 20 44333576 44333576 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:44333576C>T ENST00000335769.2 - 1 82 c.55G>A c.(55-57)Gat>Aat p.D19N WFDC10B_ENST00000330523.5_5'UTR|WFDC13_ENST00000305479.2_Intron NM_172131.2 NP_742143.1 Q8IUB3 WF10B_HUMAN WAP four-disulfide core domain 10B 0 extracellular region peptidase inhibitor activity lung(2)|ovary(1)|stomach(1) 4 Myeloproliferative disorder(115;0.0122) TAACCAAAATCCCAAAGCAAA 0.507000 77 104 0 0 1 0 0 C5orf20 140947 broad.mit.edu 37 5 134782696 134782696 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:134782696G>A ENST00000503143.2 - 1 342 c.103C>T c.(103-105)Cca>Tca p.P35S TIFAB_ENST00000537858.1_3'UTR NM_130848.2 NP_570900.1 Q8TF63 DCNP1_HUMAN chromosome 5 open reading frame 20 35 nucleus endometrium(1)|lung(1)|prostate(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGGAACTCTGGGGTTTCCCCA 0.597000 3 12 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113380127 113380127 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:113380127G>A ENST00000316407.4 - 7 812 c.402C>T c.(400-402)gtC>gtT p.V134V KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.V134V NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 134 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TAACAACAGAGACCTTTGAGT 0.383000 25 58 0 0 1 0 0 TAS2R39 259285 broad.mit.edu 37 7 142881294 142881294 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142881294C>T ENST00000446620.1 + 1 783 c.783C>T c.(781-783)atC>atT p.I261I NM_176881.2 NP_795362.2 P59534 T2R39_HUMAN taste receptor, type 2, member 39 261 sensory perception of taste integral to membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 Melanoma(164;0.059) TGGGGGCCATCAAAGCTATCA 0.478000 25 80 0 0 1 0 0 ZNF419 79744 broad.mit.edu 37 19 58003536 58003536 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:58003536C>T ENST00000424930.2 + 4 487 c.258C>T c.(256-258)ccC>ccT p.P86P ZNF419_ENST00000520540.1_Silent_p.P73P|ZNF419_ENST00000221735.7_Silent_p.P85P|ZNF419_ENST00000518999.1_Silent_p.P86P|ZNF419_ENST00000442920.2_Silent_p.P72P|ZNF419_ENST00000426954.2_Silent_p.P73P|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Intron|ZNF419_ENST00000354197.4_Silent_p.P73P|ZNF419_ENST00000347466.6_Intron NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 85 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) GGGAGGAGCCCTTCATGCCTG 0.512000 14 50 0 0 1 0 0 SPATA31C1 441452 broad.mit.edu 37 9 90535541 90535541 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:90535541C>T ENST00000602681.1 + 0 1445 ACTCCTCCTCCCCTGCGGGAC 0.602000 46 102 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15794496 15794496 + Missense_Mutation SNP C C G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:15794496C>G ENST00000550308.1 + 7 1221 c.841C>G c.(841-843)Cag>Gag p.Q281E CYP4F12_ENST00000324632.9_Missense_Mutation_p.Q281E NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CCTCCCCACTCAGGGTATTGA 0.527000 29 79 0 0 1 0 0 CCDC62 84660 broad.mit.edu 37 12 123282718 123282718 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:123282718G>A ENST00000253079.6 + 8 1292 c.948G>A c.(946-948)aaG>aaA p.K316K CCDC62_ENST00000537566.1_Silent_p.K77K|CCDC62_ENST00000392440.2_Silent_p.K77K|CCDC62_ENST00000392441.4_Silent_p.K316K NM_201435.4 NP_958843.2 Q6P9F0 CCD62_HUMAN coiled-coil domain containing 62 316 cytoplasm|nucleus breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206) ATGACTCAAAGATGGAGGAAT 0.338000 10 18 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731166 21731166 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:21731166C>T ENST00000584755.1 + 2 865 c.468C>T c.(466-468)ttC>ttT p.F156F UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Silent_p.F156F endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 TGCAGATCTTCGTGAAGACCC 0.537000 20 42 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573559 140573559 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140573559A>T ENST00000239446.4 + 1 1618 c.1434A>T c.(1432-1434)agA>agT p.R478S NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 478 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACAGACAGAGACTCGGGCA 0.667000 19 203 0 0 1 0 0 TACC1 6867 broad.mit.edu 37 8 38700881 38700881 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:38700881C>T ENST00000379931.3 + 12 2611 c.2232C>T c.(2230-2232)gcC>gcT p.A744A TACC1_ENST00000348567.4_Silent_p.A294A|TACC1_ENST00000520615.1_Silent_p.A537A|TACC1_ENST00000330691.6_Silent_p.A306A|TACC1_ENST00000317827.4_Silent_p.A732A|TACC1_ENST00000520973.1_Silent_p.A508A|TACC1_ENST00000276520.8_Silent_p.A322A|TACC1_ENST00000520611.1_Silent_p.A169A|TACC1_ENST00000518415.1_Silent_p.A658A|TACC1_ENST00000519416.1_Silent_p.A536A|TACC1_ENST00000443286.2_Silent_p.A719A O75410 TACC1_HUMAN transforming, acidic coiled-coil containing protein 1 732 Interaction with CH-TOG. cell cycle|cell division intermediate filament cytoskeleton|microtubule organizing center|nucleus protein binding breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3) 17 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065) LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235) GATACCAGGCCCTGAAAATCC 0.393000 33 74 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91784718 91784718 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:91784718A>G ENST00000370425.3 - 25 2827 c.2729T>C c.(2728-2730)tTg>tCg p.L910S HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.L142S|HFM1_ENST00000370424.3_Missense_Mutation_p.L589S NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 910 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CAAACTATTCAATAGTACAGC 0.308000 12 31 0 0 1 0 0 FAM151B 167555 broad.mit.edu 37 5 79815612 79815612 + Nonsense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:79815612G>T ENST00000282226.4 + 4 573 c.418G>T c.(418-420)Gga>Tga p.G140* FAM151B_ENST00000511718.1_3'UTR NM_205548.2 NP_991111.2 Q6UXP7 F151B_HUMAN family with sequence similarity 151, member B 140 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 7 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36) TGGTCCAAATGGAAATAGCAA 0.438000 4 44 0.150653 0.150965 1 1 0 PLXNB2 23654 broad.mit.edu 37 22 50716104 50716104 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:50716104G>A ENST00000449103.1 - 33 5252 c.5112C>T c.(5110-5112)gtC>gtT p.V1704V PLXNB2_ENST00000359337.4_Silent_p.V1704V O15031 PLXB2_HUMAN plexin B2 1704 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCACCTCGTGGACATGCACGT 0.622000 18 75 0 0 1 0 0 LRTM1 57408 broad.mit.edu 37 3 54952727 54952727 + Missense_Mutation SNP C C T rs11541701 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:54952727C>T ENST00000273286.5 - 3 959 c.797G>A c.(796-798)cGa>cAa p.R266Q CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.R190Q|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 266 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) CAAGAGTTCTCGCTCCCCCGC 0.617000 21 26 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161007581 161007581 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:161007581C>T ENST00000447678.1 - 26 4149 c.4029G>A c.(4027-4029)tgG>tgA p.W1343* LPA_ENST00000316300.5_Nonsense_Mutation_p.W1343* NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3851 Kringle 12. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGCAGTACTCCCATCTGACAC 0.502000 25 44 0 0 1 0 0 TMTC2 160335 broad.mit.edu 37 12 83251006 83251006 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:83251006C>T ENST00000549919.1 + 3 2088 c.283C>T c.(283-285)Ctc>Ttc p.L95F TMTC2_ENST00000321196.3_Missense_Mutation_p.L101F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L101F Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 101 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 AGTCACTGGTCTCTTCACAAG 0.507000 36 74 0 0 1 0 0 CHEK2P2 646096 broad.mit.edu 37 15 20488852 20488852 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:20488852G>A ENST00000555186.1 + 0 335 NR_038836.1 GTTTCTGTTGGGACTGCTGGG 0.448000 7 55 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169648930 169648930 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:169648930G>A ENST00000366787.3 - 4 440 c.191C>T c.(190-192)cCa>cTa p.P64L NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 64 Heparin-binding (Potential).|TSP N-terminal. 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) GTTCACCGGTGGGATGTAGTC 0.607000 20 42 0 0 1 0 0 RTP3 83597 broad.mit.edu 37 3 46542052 46542052 + Missense_Mutation SNP G G A rs116177254 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:46542052G>A ENST00000296142.3 + 2 934 c.362G>A c.(361-363)cGa>cAa p.R121Q NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 121 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) CTGGTGTTCCGAATTCTGAAG 0.443000 36 88 0 0 1 0 0 APOA4 337 broad.mit.edu 37 11 116691979 116691979 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:116691979C>T ENST00000357780.3 - 3 909 c.795G>A c.(793-795)caG>caA p.Q265Q NM_000482.3 NP_000473.2 apolipoprotein A-IV cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) GCGCCAGCCTCTGCCGCAGCT 0.652000 120 131 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52709786 52709786 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:52709786G>A ENST00000293670.3 - 7 1215 c.1153C>T c.(1153-1155)Caa>Taa p.Q385* AC121757.1_ENST00000594763.1_Missense_Mutation_p.24_24insY NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 385 Coil 2.|Rod. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCCATGTCTTGCTTGGCCTTC 0.647000 16 48 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44892134 44892134 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:44892134G>A ENST00000330997.4 - 4 337 c.273C>T c.(271-273)atC>atT p.I91I ZNF285_ENST00000591679.1_Silent_p.I98I|ZNF285_ENST00000544719.2_Silent_p.I91I|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 GAAGGTTCACGATATAATCCT 0.418000 20 51 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63174573 63174573 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:63174573G>A ENST00000322893.7 - 11 2888 c.2620C>T c.(2620-2622)Cgt>Tgt p.R874C KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 874 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TTATCCAAACGAAGGTCACTT 0.507000 20 74 0 0 1 0 0 PKNOX1 5316 broad.mit.edu 37 21 44441534 44441534 + Missense_Mutation SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:44441534A>C ENST00000291547.5 + 8 1053 c.842A>C c.(841-843)cAc>cCc p.H281P PKNOX1_ENST00000432907.2_Missense_Mutation_p.H164P NM_004571.3 NP_004562.2 P55347 PKNX1_HUMAN PBX/knotted 1 homeobox 1 281 sequence-specific DNA binding cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1) 22 CTCTTCCAGCACATCGGGGTA 0.557000 15 36 0 0 1 0 0 ACVR1 90 broad.mit.edu 37 2 158655957 158655957 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:158655957G>A ENST00000263640.3 - 3 478 c.49C>T c.(49-51)Ccc>Tcc p.P17S ACVR1_ENST00000434821.1_Missense_Mutation_p.P17S|ACVR1_ENST00000410057.2_Missense_Mutation_p.P17S|ACVR1_ENST00000409283.2_Missense_Mutation_p.P17S NM_001105.4 NP_001096.1 Q04771 ACVR1_HUMAN activin A receptor, type I 17 BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 19 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) CTAGGGGAGGGGAGAGCAATC 0.353000 30 23 0 0 1 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131704165 131704165 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:131704165G>A ENST00000409359.1 + 4 4150 c.2952G>A c.(2950-2952)acG>acA p.T984T ARHGEF4_ENST00000409303.1_Silent_p.T128T|ARHGEF4_ENST00000428230.2_Silent_p.T128T|ARHGEF4_ENST00000525839.1_Silent_p.T128T|ARHGEF4_ENST00000326016.5_Silent_p.T128T|ARHGEF4_ENST00000392953.3_Silent_p.T128T Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 128 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) GTGCTCCAACGGGACTGAACC 0.527000 51 36 0 0 1 0 0 KIAA1683 80726 broad.mit.edu 37 19 18378207 18378207 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:18378207T>A ENST00000392413.3 - 3 358 c.143A>T c.(142-144)gAg>gTg p.E48V KIAA1683_ENST00000600328.2_Missense_Mutation_p.E48V|KIAA1683_ENST00000600359.2_Missense_Mutation_p.E2V NM_001145304.1|NM_001145305.1|NM_025249.3 NP_001138776.1|NP_001138777.1|NP_079525.1 Q9H0B3 K1683_HUMAN KIAA1683 48 mitochondrion breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 AGGCGCTTTCTCCATTTTGTC 0.652000 52 97 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55024414 55024414 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:55024414C>T ENST00000324000.3 + 3 2607 c.573C>T c.(571-573)ttC>ttT p.F191F NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 191 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity p.F191F(1) breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) GTTGCAATTTCGCCCCTACGG 0.403000 16 39 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110825108 110825108 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:110825108C>T ENST00000375820.4 - 41 3636 c.3515G>A c.(3514-3516)gGa>gAa p.G1172E NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1172 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GAATCCTCTTCCTGGTAGACC 0.443000 21 66 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20841288 20841288 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:20841288C>T ENST00000262715.5 - 48 6873 c.6833G>A c.(6832-6834)aGg>aAg p.R2278K TEP1_ENST00000556935.1_Missense_Mutation_p.R2170K|TEP1_ENST00000545983.1_Missense_Mutation_p.R616K NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2278 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGCAGAACTCCTTGGTATACA 0.493000 26 59 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10924846 10924846 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:10924846C>T ENST00000283141.6 + 15 1486 c.1190C>T c.(1189-1191)tCc>tTc p.S397F SYCP2L_ENST00000543878.1_Missense_Mutation_p.S238F|RP11-637O19.3_ENST00000480294.1_3'UTR NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 397 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) TCACAAGTTtccattcaagct 0.308000 10 14 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19940296 19940296 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:19940296C>T ENST00000295824.9 - 8 1705 c.1544G>A c.(1543-1545)gGa>gAa p.G515E EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Missense_Mutation_p.G385E NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 515 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 GAGACAAGCTCCAAATGTGCA 0.388000 14 44 0 0 1 0 0 BBS4 585 broad.mit.edu 37 15 73007710 73007710 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:73007710G>A ENST00000268057.4 + 5 340 c.299G>A c.(298-300)aGt>aAt p.S100N BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.S88N|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.S108N NM_033028.4 NP_149017.2 Q96RK4 BBS4_HUMAN Bardet-Biedl syndrome 4 100 adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1) 19 AGTCCTCAGAGTGCTGATAAC 0.453000 Bardet-Biedl syndrome 24 60 0 0 1 0 0 KATNAL2 83473 broad.mit.edu 37 18 44589343 44589343 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:44589343G>A ENST00000245121.5 + 6 528 c.333_splice c.e6-1 p.G112_splice KATNAL2_ENST00000356157.7_Splice_Site_p.G184_splice|KATNAL2_ENST00000592005.1_Intron NM_031303.2 NP_112593.2 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 184 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2) 27 TCCCTTTCAGGGCCAAATCAT 0.438000 7 41 0 0 1 0 0 ITIH3 3699 broad.mit.edu 37 3 52841067 52841067 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:52841067G>A ENST00000449956.2 + 19 2213 c.2207G>A c.(2206-2208)aGg>aAg p.R736K ITIH3_ENST00000416872.2_Missense_Mutation_p.R544K NM_002217.3 NP_002208.3 Q06033 ITIH3_HUMAN inter-alpha-trypsin inhibitor heavy chain 3 736 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 25 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CTGTGGAACAGGGCCGTGCCG 0.547000 5 6 0 0 1 0 0 HDLBP 3069 broad.mit.edu 37 2 242189371 242189371 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:242189371T>C ENST00000391975.1 - 12 1624 c.1397A>G c.(1396-1398)aAg>aGg p.K466R HDLBP_ENST00000427183.2_Missense_Mutation_p.K433R|HDLBP_ENST00000310931.4_Missense_Mutation_p.K466R|HDLBP_ENST00000476807.1_5'UTR|HDLBP_ENST00000391976.2_Missense_Mutation_p.K466R NM_203346.3 NP_976221.1 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 466 KH 5. 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) CACGGACACCTTGTACTGGTC 0.517000 45 49 0 0 1 0 0 TRAV1-1 28693 broad.mit.edu 37 14 22090699 22090699 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:22090699C>T ENST00000542354.1 + 0 371 GACTCTGCCTCTTACTTCTGC 0.463000 5 25 0 0 1 0 0 PKP3 11187 broad.mit.edu 37 11 403156 403156 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:403156C>T ENST00000331563.2 + 9 1892 c.1816C>T c.(1816-1818)Cag>Tag p.Q606* NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 606 cell adhesion desmosome|nucleus binding breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTGGAGCCCCCAGATCGTGGG 0.716000 5 5 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214805901 214805901 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:214805901C>T ENST00000366955.3 + 10 1570 c.1402C>T c.(1402-1404)Cag>Tag p.Q468* NM_016343.3 NP_057427.3 P49454 CENPF_HUMAN centromere protein F, 350/400kDa 468 Interaction with SNAP25 and required for localization to the cytoplasm (By similarity). cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) ACAGGCGTTCCAGGCGAGTCA 0.448000 16 28 0 0 1 0 0 ING3 54556 broad.mit.edu 37 7 120609246 120609246 + Missense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:120609246G>T ENST00000315870.5 + 9 1044 c.896G>T c.(895-897)gGt>gTt p.G299V ING3_ENST00000431467.1_Missense_Mutation_p.G284V NM_019071.2 NP_061944.2 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 299 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) TCACGGAGTGGTCGAAAGAGC 0.438000 8 18 1.06961e-07 1.08246e-07 1 1 0 SPIB 6689 broad.mit.edu 37 19 50926219 50926219 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:50926219C>T ENST00000595883.1 + 4 289 c.264C>T c.(262-264)aaC>aaT p.N88N SPIB_ENST00000270632.7_Silent_p.N88N|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000597855.1_Silent_p.N88N NM_001243999.1|NM_001244000.1|NM_003121.4 NP_001230928.1|NP_001230929.1|NP_003112.2 Q01892 SPIB_HUMAN Spi-B transcription factor (Spi-1/PU.1 related) 88 regulation of transcription from RNA polymerase II promoter cytoplasm|microtubule cytoskeleton|nucleus sequence-specific DNA binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8) 14 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) CTGCAGGGAACCTCGAACTGG 0.652000 12 44 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63283240 63283240 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:63283240C>T ENST00000282549.2 + 5 1130 c.854C>T c.(853-855)cCg>cTg p.P285L OTX1_ENST00000366671.3_Missense_Mutation_p.P285L NM_014562.3 NP_055377.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 285 His-rich. nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) GCGCACCACCCGTTGAGCCAG 0.637000 22 50 0 0 1 0 0 PPP6R2 9701 broad.mit.edu 37 22 50878455 50878455 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:50878455G>A ENST00000359139.3 + 20 2667 c.2273G>A c.(2272-2274)cGg>cAg p.R758Q PPP6R2_ENST00000216061.5_Missense_Mutation_p.R784Q|PPP6R2_ENST00000395744.3_Missense_Mutation_p.R757Q|PPP6R2_ENST00000395741.3_Missense_Mutation_p.R758Q NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 784 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 GAGGGCAGCCGGAGCCAAGGC 0.647000 7 33 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538351 63538351 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:63538351A>G ENST00000550760.3 + 4 1103 c.924A>G c.(922-924)ggA>ggG p.G308G NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 TTCATACTGGAGAGAAACCCT 0.373000 2 1 0 0 1 0 0 WDR65 149465 broad.mit.edu 37 1 43652381 43652381 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:43652381C>T ENST00000372492.4 + 6 1297 c.973C>T c.(973-975)Cct>Tct p.P325S WDR65_ENST00000528956.1_Missense_Mutation_p.P325S NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 325 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGGCAGATTCCTGTGGACCC 0.453000 13 43 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55451818 55451818 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:55451818C>T ENST00000588756.1 - 6 855 c.369G>A c.(367-369)tgG>tgA p.W123* NLRP7_ENST00000592784.1_Nonsense_Mutation_p.W123*|NLRP7_ENST00000448121.2_Nonsense_Mutation_p.W123*|NLRP7_ENST00000590030.1_Nonsense_Mutation_p.W123*|NLRP7_ENST00000340844.2_Nonsense_Mutation_p.W123*|NLRP7_ENST00000446217.1_Nonsense_Mutation_p.W151*|NLRP7_ENST00000328092.5_Nonsense_Mutation_p.W123* Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 123 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TTGAATTTCTCCATCCTTCCT 0.433000 89 223 0 0 1 0 0 ODF3B 440836 broad.mit.edu 37 22 50968984 50968984 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:50968984C>T ENST00000405135.1 - 6 802 c.733G>A c.(733-735)Gaa>Aaa p.E245K ODF3B_ENST00000329363.4_Silent_p.R229R|ODF3B_ENST00000428989.2_Silent_p.R229R|ODF3B_ENST00000403326.1_Silent_p.R161R|ODF3B_ENST00000401779.1_Missense_Mutation_p.E206K A8MYP8 ODF3B_HUMAN outer dense fiber of sperm tails 3B 0 lung(2) 2 CGCGGGGCTTCCGGTGCTGCG 0.736000 3 4 0 0 1 0 0 LCN8 138307 broad.mit.edu 37 9 139650977 139650977 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:139650977G>A ENST00000371688.3 - 3 518 c.223C>T c.(223-225)Cct>Tct p.P75S LCN8_ENST00000482893.1_5'UTR NM_178469.3 NP_848564.2 Q6JVE9 LCN8_HUMAN lipocalin 8 98 transport extracellular region binding endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1) 10 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05) CACTTACCAGGAAAAGCGAAT 0.522000 32 83 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23385559 23385559 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:23385559G>A ENST00000258729.3 - 8 1297 c.941_splice c.e8+1 p.P314_splice NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 314 KH 2. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 GAGCACTCACGGAGATATCGT 0.373000 14 47 0 0 1 0 0 KIAA2026 158358 broad.mit.edu 37 9 5921171 5921171 + Nonsense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:5921171T>A ENST00000399933.3 - 8 4824 c.4825A>T c.(4825-4827)Aaa>Taa p.K1609* KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.K1579* NM_001017969.2 NP_001017969.2 Q5HYC2 K2026_HUMAN KIAA2026 1609 breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1) 46 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TTGCTACTTTTGTCTTCTCCT 0.363000 13 38 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33874486 33874486 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:33874486C>T ENST00000374408.3 - 4 2192 c.2096G>A c.(2095-2097)gGg>gAg p.G699E NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 699 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) CTTGGGACCCCCAGGCTCAGT 0.582000 27 117 0 0 1 0 0 NKD1 85407 broad.mit.edu 37 16 50664108 50664108 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:50664108C>T ENST00000268459.3 + 7 698 c.474C>T c.(472-474)agC>agT p.S158S NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 158 EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity). Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) ACATCACCAGCTTGCTGCACA 0.582000 18 30 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12656526 12656526 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:12656526G>A ENST00000425538.1 + 10 2121 c.1921G>A c.(1921-1923)Ggg>Agg p.G641R MYOCD_ENST00000395988.1_Missense_Mutation_p.G545R|MYOCD_ENST00000343344.4_Missense_Mutation_p.G641R NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 641 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) TTCACCGCTGGGGGCTGTGAA 0.557000 44 100 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113141783 113141783 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:113141783G>A ENST00000401783.2 - 44 10588 c.10252C>T c.(10252-10254)Cca>Tca p.P3418S SVEP1_ENST00000374469.1_Missense_Mutation_p.P3395S|SVEP1_ENST00000297826.5_Missense_Mutation_p.P1344S NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 3418 Sushi 34. 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 TGAGCTGGTGGACCACATGAG 0.398000 10 31 0 0 1 0 0 TRAV6 6956 broad.mit.edu 37 14 22237103 22237103 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:22237103G>A ENST00000390428.3 + 0 187 CGGCCACCCTGACCTGCAACT 0.468000 5 24 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164716414 164716414 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:164716414G>A ENST00000264382.3 - 38 4516 c.4454C>T c.(4453-4455)tCc>tTc p.S1485F NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1485 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) AGGATACGTGGAACGAGAAAT 0.393000 HNSCC(35;0.089) 16 50 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071803 240071803 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:240071803C>T ENST00000255380.4 + 5 1831 c.1052C>T c.(1051-1053)tCc>tTc p.S351F NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 351 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) AACTCCGCCTCCTCCGACGAG 0.572000 5 9 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112672959 112672959 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:112672959G>A ENST00000550722.1 - 37 5794 c.5399C>T c.(5398-5400)gCt>gTt p.A1800V HECTD4_ENST00000430131.2_Missense_Mutation_p.A1524V|HECTD4_ENST00000377560.5_Missense_Mutation_p.A1774V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GCCATCCACAGCCTCACTCTC 0.463000 8 21 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94502326 94502326 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:94502326C>T ENST00000370225.3 - 26 3918 c.3832G>A c.(3832-3834)Gag>Aag p.E1278K NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 1278 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) TCAGAATCCTCCGTGACCTTC 0.438000 41 103 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56170921 56170921 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:56170921C>T ENST00000399503.3 + 10 1749 c.1749C>T c.(1747-1749)gcC>gcT p.A583A NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 583 cellular response to mechanical stimulus|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 ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GAGAGATGGCCCTCAGGCGTC 0.502000 31 70 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93003922 93003922 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:93003922C>T ENST00000523629.1 - 7 1390 c.936G>A c.(934-936)agG>agA p.R312R RUNX1T1_ENST00000436581.2_Silent_p.R323R|RUNX1T1_ENST00000396218.1_Silent_p.R285R|RUNX1T1_ENST00000265814.3_Silent_p.R312R|RUNX1T1_ENST00000518844.1_Silent_p.R285R|RUNX1T1_ENST00000422361.2_Silent_p.R275R|RUNX1T1_ENST00000360348.2_Silent_p.R275R|RUNX1T1_ENST00000520724.1_Silent_p.R275R NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 312 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GATAGGAGTCCCTGTAGTGGT 0.547000 38 99 0 0 1 0 0 CBY1 25776 broad.mit.edu 37 22 39064102 39064102 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:39064102C>T ENST00000216029.3 + 2 177 c.43C>T c.(43-45)Cct>Tct p.P15S RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000422408.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA NM_015373.3 NP_056188.1 Q9Y3M2 CBY1_HUMAN chibby homolog 1 (Drosophila) 15 cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization nuclear speck|trans-Golgi network beta-catenin binding|identical protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 Melanoma(58;0.04) GAAGACACCTCCTCGGAAGTC 0.532000 17 40 0 0 1 0 0 TRAPPC8 22878 broad.mit.edu 37 18 29493477 29493477 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:29493477G>A ENST00000283351.4 - 5 961 c.626C>T c.(625-627)tCa>tTa p.S209L TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S155L|TRAPPC8_ENST00000582513.1_Missense_Mutation_p.S209L NM_014939.3 NP_055754.2 Q9Y2L5 TPPC8_HUMAN trafficking protein particle complex 8 209 ER to Golgi vesicle-mediated transport cis-Golgi network breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TTCATAAATTGATTCAGCTCT 0.308000 3 10 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204218034 204218034 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:204218034G>A ENST00000272203.3 - 12 2055 c.1739C>T c.(1738-1740)gCc>gTc p.A580V PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A600V NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 580 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) TTCTGGGTAGGCGGGCTGGCT 0.577000 9 19 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42482889 42482889 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:42482889G>A ENST00000545399.1 - 12 1691 c.1538C>T c.(1537-1539)gCc>gTc p.A513V ATP1A3_ENST00000543770.1_Missense_Mutation_p.A511V|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A500V|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A470V NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 500 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 GCGCTCGGGGGCACCCTTCAT 0.617000 28 72 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20618811 20618811 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:20618811C>T ENST00000504154.1 + 35 4378 c.4126C>T c.(4126-4128)Ctt>Ttt p.L1376F SLIT2_ENST00000273739.5_Missense_Mutation_p.L1389F|SLIT2_ENST00000503837.1_Missense_Mutation_p.L1372F|SLIT2_ENST00000503823.1_Missense_Mutation_p.L1368F NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 1376 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 TGACCCTTGCCTTGGAAATAA 0.567000 21 46 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21699320 21699320 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:21699320C>T ENST00000261195.2 - 12 1761 c.1507G>A c.(1507-1509)Gga>Aga p.G503R NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 503 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GGAAATACTCCAAGATGACAA 0.368000 6 29 0 0 1 0 0 WDR78 79819 broad.mit.edu 37 1 67390495 67390495 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:67390495G>A ENST00000371026.3 - 1 75 c.20C>T c.(19-21)tCc>tTc p.S7F WDR78_ENST00000371023.3_Missense_Mutation_p.S7F|WDR78_ENST00000371022.3_Missense_Mutation_p.S7F|WDR78_ENST00000431318.1_5'UTR NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 7 NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3) 32 CGAGGCTCCGGAATGTTTGCC 0.697000 25 44 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160732139 160732139 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:160732139C>T ENST00000263636.4 - 12 1817 c.1790G>A c.(1789-1791)tGc>tAc p.C597Y LY75-CD302_ENST00000504764.1_Missense_Mutation_p.C597Y|LY75_ENST00000554112.1_Missense_Mutation_p.C597Y|LY75_ENST00000553424.1_Missense_Mutation_p.C597Y|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.C597Y NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) CATAGCCACGCAGCCGCCCGG 0.428000 70 44 0 0 1 0 0 NEDD4 4734 broad.mit.edu 37 15 56142799 56142799 + Silent SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:56142799G>T ENST00000508342.1 - 10 2844 c.2545C>A c.(2545-2547)Cgg>Agg p.R849R NEDD4_ENST00000506154.1_Silent_p.R833R|NEDD4_ENST00000338963.2_Silent_p.R777R|NEDD4_ENST00000435532.3_Silent_p.R430R P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 849 Mediates interaction with TNIK (By similarity).|WW 3. development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity p.R777W(1)|p.R430W(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) GGTGCATGCCGGACTTCCCAG 0.458000 64 136 7.73544e-29 7.89847e-29 1 1 0 ADD1 118 broad.mit.edu 37 4 2901061 2901061 + Missense_Mutation SNP C C T rs145933934 by1000genomes TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:2901061C>T ENST00000355842.3 + 10 1923 c.1060C>T c.(1060-1062)Cgt>Tgt p.R354C ADD1_ENST00000503455.2_Missense_Mutation_p.R354C|ADD1_ENST00000398123.2_Missense_Mutation_p.R354C|ADD1_ENST00000398125.1_Missense_Mutation_p.R354C|ADD1_ENST00000398129.1_Missense_Mutation_p.R354C|ADD1_ENST00000264758.7_Missense_Mutation_p.R354C|ADD1_ENST00000513328.2_Missense_Mutation_p.R354C|ADD1_ENST00000446856.1_Missense_Mutation_p.R354C P35611 ADDA_HUMAN adducin 1 (alpha) 354 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AGCCAAGTCCCGTTCCCCAGG 0.537000 9 45 0 0 1 0 0 KRTAP10-4 386672 broad.mit.edu 37 21 45993650 45993650 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:45993650C>T ENST00000400374.3 + 1 45 c.15C>T c.(13-15)tcC>tcT p.S5S TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron NM_198687.1 NP_941960.1 P60372 KR104_HUMAN keratin associated protein 10-4 5 keratin filament NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1) 18 CCGTCTGCTCCAGCGACCTGA 0.642000 25 42 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47880452 47880452 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:47880452C>T ENST00000328771.4 + 13 3044 c.2695C>T c.(2695-2697)Cct>Tct p.P899S NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 899 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CGTCCGCATCCCTGCCCTCCA 0.642000 5 13 0 0 1 0 0 CUEDC1 404093 broad.mit.edu 37 17 55957100 55957100 + Splice_Site SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:55957100C>A ENST00000577830.1 - 3 750 c.e3-1 CUEDC1_ENST00000407144.2_Splice_Site|CUEDC1_ENST00000360238.2_Splice_Site|CUEDC1_ENST00000577840.1_Splice_Site NM_001271875.1 NP_001258804.1 Q9NWM3 CUED1_HUMAN CUE domain containing 1 endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3) 12 TTTCCAAGATCTAAATCAGAG 0.468000 32 110 2.70662e-09 2.74486e-09 1 1 0 MAPT 4137 broad.mit.edu 37 17 44060965 44060965 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:44060965C>T ENST00000344290.5 + 6 1117 c.795C>T c.(793-795)atC>atT p.I265I MAPT_ENST00000351559.5_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Silent_p.I265I|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Silent_p.I265I|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000571987.1_Silent_p.I265I NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 265 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) AGGGTGCCATCCCCCTCCCTG 0.677000 16 25 0 0 1 0 0 ACOT1 641371 broad.mit.edu 37 14 74004392 74004392 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:74004392C>T ENST00000311148.4 + 1 575 c.267C>T c.(265-267)ccC>ccT p.P89P HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron|ACOT1_ENST00000557556.1_Silent_p.P89P NM_001037161.1 NP_001032238.1 acyl-CoA thioesterase 1 endometrium(1)|large_intestine(1)|lung(2) 4 OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033) CCGAGAAACCCTTGGTGCGGC 0.736000 3 20 0 0 1 0 0 CRAT 1384 broad.mit.edu 37 9 131862950 131862950 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:131862950G>A ENST00000318080.2 - 7 1118 c.824C>T c.(823-825)tCc>tTc p.S275F NM_000755.3|NM_001257363.1 NP_000746.2|NP_001244292.1 P43155 CACP_HUMAN carnitine O-acetyltransferase 275 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) GGAGCGCACGGAATCCCGGTT 0.617000 6 23 0 0 1 0 0 CCRN4L 25819 broad.mit.edu 37 4 139966000 139966000 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:139966000C>T ENST00000280614.2 + 3 861 c.668C>T c.(667-669)cCt>cTt p.P223L ELF2_ENST00000515489.1_Intron NM_012118.2 NP_036250.2 Q9UK39 NOCT_HUMAN CCR4 carbon catabolite repression 4-like (S. cerevisiae) 223 rhythmic process|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity kidney(2)|large_intestine(3)|lung(3)|ovary(1) 9 all_hematologic(180;0.162) CCCTGGTCACCTTGTCTAGAT 0.448000 16 54 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59221772 59221772 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:59221772C>T ENST00000262717.4 + 12 2648 c.2250C>T c.(2248-2250)ttC>ttT p.F750F CDH20_ENST00000538374.1_Silent_p.F750F|CDH20_ENST00000536675.2_Silent_p.F750F Q9HBT6 CAD20_HUMAN cadherin 20, type 2 750 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CGTATATGTTCGAGGGGGACG 0.647000 7 11 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13901560 13901560 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:13901560C>T ENST00000265104.4 - 14 1957 c.1853G>A c.(1852-1854)cGa>cAa p.R618Q NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 618 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.R618Q(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AGGCTGGTTTCGAGCCAGAGG 0.473000 Kartagener syndrome 25 12 0 0 1 0 0 ZNF454 285676 broad.mit.edu 37 5 178392614 178392614 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:178392614G>A ENST00000320129.3 + 5 1512 c.1209G>A c.(1207-1209)cgG>cgA p.R403R ZNF454_ENST00000519564.1_Silent_p.R403R NM_001178090.1|NM_182594.2 NP_001171561.1|NP_872400.2 Q8N9F8 ZN454_HUMAN zinc finger protein 454 403 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2) 46 all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.234) CACGACATCGGAAAATTCACA 0.428000 14 21 0 0 1 0 0 CMSS1 84319 broad.mit.edu 37 3 99886606 99886606 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:99886606G>A ENST00000421999.2 + 6 586 c.440G>A c.(439-441)aGg>aAg p.R147K CMSS1_ENST00000489081.1_Missense_Mutation_p.R129K NM_032359.3 NP_115735.2 cms1 ribosomal small subunit homolog (yeast) GTAAAACTTAGGAAGAACCAC 0.448000 39 92 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64602559 64602559 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:64602559C>T ENST00000342711.5 - 17 2019 c.2020G>A c.(2020-2022)Gag>Aag p.E674K NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 674 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CAGTTGCTCTCCGTCTCCCGC 0.701000 10 24 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204043 9204043 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9204043G>A ENST00000429566.3 + 1 189 c.123G>A c.(121-123)ggG>ggA p.G41G NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TGGTCGTGGGGAACCTGCTCA 0.537000 15 41 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37035973 37035973 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:37035973G>A ENST00000379242.3 + 15 2050 c.1748G>A c.(1747-1749)tGg>tAg p.W583* VIT_ENST00000389975.3_Nonsense_Mutation_p.W568*|VIT_ENST00000497382.1_Nonsense_Mutation_p.W237*|VIT_ENST00000401530.1_Nonsense_Mutation_p.W547*|VIT_ENST00000404084.1_Nonsense_Mutation_p.W520*|VIT_ENST00000379241.3_Nonsense_Mutation_p.W546* NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 568 VWFA 2. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) GTGGGCTACTGGAGTGGTGGC 0.572000 16 43 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163228391 163228391 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:163228391C>T ENST00000332142.5 - 16 3638 c.3539G>A c.(3538-3540)gGa>gAa p.G1180E NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 1180 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) ACCCACGATTCCTACAGTGCT 0.413000 26 18 0 0 1 0 0 SLC22A20 440044 broad.mit.edu 37 11 65004214 65004214 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:65004214C>T ENST00000525437.1 + 0 1464 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 GACGGCGCCCCTGGTTACCAC 0.662000 27 62 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17191264 17191264 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:17191264C>T ENST00000265970.7 - 1 24 c.25G>A c.(25-27)Gga>Aga p.G9R PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron NM_002645.2 NP_002636.2 O00443 P3C2A_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 9 Interaction with clathrin. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) TCTTTAAATCCGCTGTTGCTA 0.393000 15 47 0 0 1 0 0 NYAP2 57624 broad.mit.edu 37 2 226516273 226516273 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:226516273C>T ENST00000272907.6 + 6 2367 c.1954C>T c.(1954-1956)Cgt>Tgt p.R652C NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 652 GTTAGCCAATCGTGATTGACT 0.498000 124 91 0 0 1 0 0 GPR12 2835 broad.mit.edu 37 13 27333417 27333417 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:27333417C>T ENST00000405846.3 - 2 769 c.548G>A c.(547-549)cGa>cAa p.R183Q GPR12_ENST00000381436.2_Missense_Mutation_p.R183Q NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 183 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) GGACTCGTCTCGGAGGCAGTT 0.602000 16 34 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44278616 44278616 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:44278616G>A ENST00000262888.3 - 3 806 c.411C>T c.(409-411)tcC>tcT p.S137S NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 137 defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) AGGGCTGCGGGGAGGTCAGCG 0.731000 OREG0025535 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 6 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21390454 21390454 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:21390454C>T ENST00000313654.9 + 13 1969 c.1728C>T c.(1726-1728)ttC>ttT p.F576F LAMA3_ENST00000399516.3_Silent_p.F576F NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 576 Domain V.|Laminin EGF-like 5. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTATGATTTCCCCCACTGCC 0.562000 16 33 0 0 1 0 0 DNAAF1 123872 broad.mit.edu 37 16 84203959 84203959 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:84203959G>A ENST00000378553.5 + 8 1649 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K DNAAF1_ENST00000563818.1_3'UTR NM_178452.4 NP_848547.4 Q8NEP3 DAAF1_HUMAN dynein, axonemal, assembly factor 1 509 Pro-rich. axonemal dynein complex assembly|cilium morphogenesis cilium axoneme|cytoplasm|spindle pole dynein binding NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1) 41 AGCTGCCAGGGAAGGTAATGT 0.617000 16 16 0 0 1 0 0 SAMD9L 219285 broad.mit.edu 37 7 92763946 92763946 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:92763946C>T ENST00000318238.4 - 5 2555 c.1339G>A c.(1339-1341)Gat>Aat p.D447N SAMD9L_ENST00000411955.1_Missense_Mutation_p.D447N|SAMD9L_ENST00000437805.1_Missense_Mutation_p.D447N NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 447 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) GATTCAGGATCAAACTCCAAC 0.343000 22 58 0 0 1 0 0 PAPOLG 64895 broad.mit.edu 37 2 61006804 61006804 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:61006804C>T ENST00000238714.3 + 9 976 c.727C>T c.(727-729)Ctt>Ttt p.L243F PAPOLG_ENST00000483370.1_3'UTR NM_022894.3 NP_075045.2 Q9BWT3 PAPOG_HUMAN poly(A) polymerase gamma 243 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 35 all_hematologic(2;0.0797) LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768) GCTAGGATTCCTTGGTGGTGT 0.348000 18 50 0 0 1 0 0 SEC23A 10484 broad.mit.edu 37 14 39514386 39514386 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:39514386G>A ENST00000537403.1 - 12 2476 c.1274C>T c.(1273-1275)tCt>tTt p.S425F SEC23A_ENST00000307712.6_Missense_Mutation_p.S627F|SEC23A_ENST00000545328.2_Missense_Mutation_p.S598F|SEC23A_ENST00000536508.1_Missense_Mutation_p.S525F Q15436 SC23A_HUMAN Sec23 homolog A (S. cerevisiae) 627 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane protein binding|zinc ion binding kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1) 23 Hepatocellular(127;0.213) Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565) GBM - Glioblastoma multiforme(112;0.0151) TCCACTAAAAGAATACGCATA 0.358000 16 25 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154942551 154942551 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:154942551G>A ENST00000448116.2 - 1 672 c.452C>T c.(451-453)cCc>cTc p.P151L SHC1_ENST00000368453.4_Missense_Mutation_p.P41L|SHC1_ENST00000368445.5_Missense_Mutation_p.P151L|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron|SHC1_ENST00000368450.1_Missense_Mutation_p.P41L NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 151 activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TTTGTCGTTGGGATGCAGCCA 0.637000 21 71 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47407554 47407554 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:47407554G>A ENST00000361866.3 + 8 904 c.790G>A c.(790-792)Gac>Aac p.D264N NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 264 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GCTCCGGGGCGACCCCGGCTT 0.687000 23 33 0 0 1 0 0 HCN1 348980 broad.mit.edu 37 5 45262141 45262141 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:45262141G>A ENST00000303230.4 - 8 2612 c.2555C>T c.(2554-2556)cCg>cTg p.P852L NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 852 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TCCTCGGTTCGGGGGGATGGC 0.637000 34 73 0 0 1 0 0 CBY1 25776 broad.mit.edu 37 22 39067154 39067154 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:39067154C>T ENST00000216029.3 + 4 398 c.264C>T c.(262-264)aaC>aaT p.N88N RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA NM_015373.3 NP_056188.1 Q9Y3M2 CBY1_HUMAN chibby homolog 1 (Drosophila) 88 Minimal region for the interaction with PKD2. cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization nuclear speck|trans-Golgi network beta-catenin binding|identical protein binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1) 4 Melanoma(58;0.04) AGGAAGAGAACAATCTCTTGC 0.572000 28 90 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196388044 196388044 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:196388044C>T ENST00000328557.4 + 3 1733 c.1530C>T c.(1528-1530)gcC>gcT p.A510A NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species AGGATGTTGCCCCCATGTTAC 0.557000 35 81 0 0 1 0 0 ST8SIA5 29906 broad.mit.edu 37 18 44260332 44260332 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:44260332G>A ENST00000315087.7 - 7 1464 c.804C>T c.(802-804)ttC>ttT p.F268F ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Silent_p.F237F|ST8SIA5_ENST00000538168.1_Silent_p.F304F NM_013305.4 NP_037437.2 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 268 glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 22 GCGGCGATTCGAAGTCGTCCA 0.617000 9 16 0 0 1 0 0 SORL1 6653 broad.mit.edu 37 11 121477932 121477932 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:121477932C>T ENST00000260197.7 + 37 5228 c.5099C>T c.(5098-5100)tCc>tTc p.S1700F SORL1_ENST00000525532.1_Missense_Mutation_p.S644F|SORL1_ENST00000534286.1_Missense_Mutation_p.S610F|SORL1_ENST00000532694.1_Missense_Mutation_p.S546F|SORL1_ENST00000527934.1_Missense_Mutation_p.S315F NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 1700 Fibronectin type-III 2. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ATGTGGGCCTCCCAGAGGGCT 0.453000 13 20 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71870278 71870278 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:71870278C>T ENST00000373545.3 - 13 1724 c.1286G>A c.(1285-1287)aGg>aAg p.R429K PHKA1_ENST00000373539.3_Missense_Mutation_p.R429K|PHKA1_ENST00000373542.4_Missense_Mutation_p.R429K|PHKA1_ENST00000541944.1_Missense_Mutation_p.R429K|PHKA1_ENST00000339490.3_Missense_Mutation_p.R429K P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 429 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) AGTAGAAAACCTGCGATTCAG 0.378000 10 8 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154412121 154412121 + Silent SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:154412121A>C ENST00000414028.2 + 3 728 c.678A>C c.(676-678)ccA>ccC p.P226P OPRM1_ENST00000452687.2_Silent_p.P226P|OPRM1_ENST00000522555.1_Silent_p.P126P|OPRM1_ENST00000360422.4_Silent_p.P226P|OPRM1_ENST00000330432.7_Silent_p.P226P|OPRM1_ENST00000337049.4_Silent_p.P226P|OPRM1_ENST00000229768.5_Silent_p.P226P|OPRM1_ENST00000520708.1_Silent_p.P126P|OPRM1_ENST00000518759.1_Silent_p.P145P|OPRM1_ENST00000522236.1_Silent_p.P126P|OPRM1_ENST00000435918.2_Silent_p.P226P|OPRM1_ENST00000428397.2_Silent_p.P226P|OPRM1_ENST00000524163.1_Silent_p.P226P|OPRM1_ENST00000419506.2_Silent_p.P226P|OPRM1_ENST00000434900.2_Silent_p.P319P NM_001145284.2 NP_001138756.1 P35372 OPRM_HUMAN opioid receptor, mu 1 226 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) TCTCTCATCCAACCTGGTACT 0.383000 26 70 0 0 1 0 0 OR5H2 79310 broad.mit.edu 37 3 98002221 98002221 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:98002221C>T ENST00000355273.2 + 1 490 c.490C>T c.(490-492)Cat>Tat p.H164Y RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005482.1 NP_001005482.1 Q8NGV7 OR5H2_HUMAN olfactory receptor, family 5, subfamily H, member 2 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 24 TGCCTTAATTCATGAAGTCCT 0.348000 17 46 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653205 159653205 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:159653205T>A ENST00000297267.9 + 11 1861 c.1661T>A c.(1660-1662)aTg>aAg p.M554K FNDC1_ENST00000340366.6_Missense_Mutation_p.M491K NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 554 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) GACTCGCCCATGTCACCCTCA 0.632000 8 17 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9632257 9632257 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:9632257C>T ENST00000570827.2 + 15 3463 c.2389C>T c.(2389-2391)Cac>Tac p.H797Y USP43_ENST00000285199.6_Missense_Mutation_p.H1108Y|USP43_ENST00000570475.1_Missense_Mutation_p.H1103Y Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 1108 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 AGTCAAATATCACACTCTTTC 0.507000 OREG0024168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 84 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167160751 167160751 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:167160751G>A ENST00000303354.6 - 6 1028 c.688C>T c.(688-690)Cca>Tca p.P230S SCN9A_ENST00000409435.1_Missense_Mutation_p.P229S|SCN9A_ENST00000375387.4_Intron|SCN9A_ENST00000409672.1_Missense_Mutation_p.P229S Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 229 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) TTCTTACCTGGGATTACAGAA 0.373000 15 22 0 0 1 0 0 GDNF 2668 broad.mit.edu 37 5 37815993 37815993 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:37815993C>T ENST00000326524.2 - 3 595 c.396G>A c.(394-396)ctG>ctA p.L132L GDNF_ENST00000515058.1_Silent_p.L106L|GDNF_ENST00000381826.4_Silent_p.L123L|GDNF_ENST00000427982.1_Silent_p.L149L|GDNF_ENST00000344622.4_Silent_p.L106L NM_000514.3 NP_000505.1 P39905 GDNF_HUMAN glial cell derived neurotrophic factor 132 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2) 15 all_lung(31;0.00118) TTTCATAGCCCAGACCCAAGT 0.458000 30 67 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41199882 41199882 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:41199882G>A ENST00000263413.3 - 4 697 c.433C>T c.(433-435)Cgc>Tgc p.R145C C6_ENST00000337836.5_Missense_Mutation_p.R145C NM_001115131.1 NP_001108603.2 P13671 CO6_HUMAN complement component 6 145 LDL-receptor class A. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGTCACAGCGAAATTTATTC 0.413000 14 55 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117171163 117171163 + Nonsense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:117171163A>T ENST00000003084.6 + 4 616 c.484A>T c.(484-486)Aag>Tag p.K162* CFTR_ENST00000454343.1_Nonsense_Mutation_p.K162* NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 162 ABC transmembrane type-1 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TTTGATTTATAAGAAGGTAAT 0.398000 Cystic Fibrosis 7 16 0 0 1 0 0 DARC 2532 broad.mit.edu 37 1 159175432 159175432 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:159175432C>T ENST00000537147.1 + 3 1046 c.203C>T c.(202-204)aCc>aTc p.T68I DARC_ENST00000368122.2_Missense_Mutation_p.T68I|DARC_ENST00000368121.2_Missense_Mutation_p.T70I Q16570 DUFFY_HUMAN Duffy blood group, atypical chemokine receptor 68 defense response integral to membrane|plasma membrane C-C chemokine binding|chemokine receptor activity large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 8 all_hematologic(112;0.0429) TTCATCCTCACCAGTGTCCTG 0.582000 30 85 0 0 1 0 0 ZNF98 148198 broad.mit.edu 37 19 22575725 22575725 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:22575725G>A ENST00000357774.5 - 4 433 c.312C>T c.(310-312)ttC>ttT p.F104F NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 104 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) TCACTTTTTGGAAATAATTTT 0.299000 3 14 0 0 1 0 0 ABCE1 6059 broad.mit.edu 37 4 146044254 146044254 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:146044254C>T ENST00000296577.4 + 14 1860 c.1345C>T c.(1345-1347)Ctg>Ttg p.L449L OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR NM_001040876.1|NM_002940.2 NP_001035809.1|NP_002931.2 P61221 ABCE1_HUMAN ATP-binding cassette, sub-family E (OABP), member 1 449 ABC transporter 2. interspecies interaction between organisms|response to virus|RNA catabolic process mitochondrion ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3) 18 all_hematologic(180;0.151) AATGAAGCCTCTGCAAATTGA 0.299000 11 30 0 0 1 0 0 ING3 54556 broad.mit.edu 37 7 120609248 120609248 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:120609248C>T ENST00000315870.5 + 9 1046 c.898C>T c.(898-900)Cga>Tga p.R300* ING3_ENST00000431467.1_Nonsense_Mutation_p.R285* NM_019071.2 NP_061944.2 Q9NXR8 ING3_HUMAN inhibitor of growth family, member 3 300 histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex zinc ion binding NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 12 all_neural(327;0.117) ACGGAGTGGTCGAAAGAGCAA 0.448000 8 18 0 0 1 0 0 CADM4 199731 broad.mit.edu 37 19 44131051 44131051 + Silent SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:44131051C>A ENST00000222374.2 - 4 432 c.384G>T c.(382-384)gtG>gtT p.V128V NM_145296.1 NP_660339.1 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 128 Ig-like C2-type 1. cell adhesion integral to membrane endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2) 12 Prostate(69;0.0199) GGACCTCCACCACAGGATTCT 0.667000 8 47 0.000442599 0.000445357 1 1 0 LAMA1 284217 broad.mit.edu 37 18 6959408 6959408 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:6959408G>A ENST00000389658.3 - 54 7803 c.7710C>T c.(7708-7710)ctC>ctT p.L2570L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2570 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGCGTGCAGGAGAGCTTTTC 0.557000 24 70 0 0 1 0 0 RAP1GAP 5909 broad.mit.edu 37 1 21928203 21928203 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:21928203G>A ENST00000542643.2 - 22 2006 c.1704C>T c.(1702-1704)tcC>tcT p.S568S RAP1GAP_ENST00000374765.4_Silent_p.S542S|RAP1GAP_ENST00000374761.2_Silent_p.S573S|RAP1GAP_ENST00000290101.4_Silent_p.S606S|RAP1GAP_ENST00000374763.2_Silent_p.S627S NM_001145657.1 NP_001139129.1 P47736 RPGP1_HUMAN RAP1 GTPase activating protein 542 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 17 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) GCATCTCTGGGGAGCTCTGAG 0.667000 12 39 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6646055 6646055 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:6646055G>A ENST00000299441.3 - 20 7602 c.7191C>T c.(7189-7191)tcC>tcT p.S2397S NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2397 Cadherin 23. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGCAGAGACGGAGAGAATGG 0.557000 5 27 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17799553 17799553 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:17799553C>T ENST00000378814.5 - 22 2733 c.2734G>A c.(2734-2736)Gtg>Atg p.V912M KIF13A_ENST00000378816.5_Missense_Mutation_p.V912M|KIF13A_ENST00000378843.2_Missense_Mutation_p.V912M|KIF13A_ENST00000259711.6_Missense_Mutation_p.V912M|KIF13A_ENST00000378826.2_Missense_Mutation_p.V912M NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 912 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) GGTGAAGGCACCTCGGGGTCC 0.522000 3 27 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117695433 117695433 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:117695433G>A ENST00000276204.6 + 7 720 c.646G>A c.(646-648)Gaa>Aaa p.E216K DOCK11_ENST00000276202.7_Missense_Mutation_p.E216K Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 216 PH. blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AAATTCAAAAGAATCGAAAGG 0.368000 20 17 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875727 247875727 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:247875727C>T ENST00000302084.2 - 1 378 c.331G>A c.(331-333)Gag>Aag p.E111K RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AGGAAGTACTCTGTGCAGCCT 0.498000 33 47 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155723145 155723145 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:155723145G>A ENST00000437809.1 - 29 5814 c.5692C>T c.(5692-5694)Cac>Tac p.H1898Y GON4L_ENST00000271883.5_Missense_Mutation_p.H1898Y|GON4L_ENST00000368331.1_Missense_Mutation_p.H1898Y Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1898 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GCCTCTCGGTGGGGGCTGCTG 0.592000 49 107 0 0 1 0 0 TEX26 122046 broad.mit.edu 37 13 31548997 31548997 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:31548997G>A ENST00000380473.3 + 7 836 c.823G>A c.(823-825)Gat>Aat p.D275N RP11-252M21.6_ENST00000433788.1_RNA|TEX26_ENST00000530916.1_3'UTR NM_152325.1 NP_689538.1 Q8N6G2 CM026_HUMAN testis expressed 26 275 ACAAATTATTGATCGCTTTAT 0.294000 3 8 0 0 1 0 0 HTR2C 3358 broad.mit.edu 37 X 114141178 114141178 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:114141178G>A ENST00000371950.3 + 6 1206 c.482G>A c.(481-483)tGg>tAg p.W161* HTR2C_ENST00000276198.1_Missense_Mutation_p.G193R|HTR2C_ENST00000371951.1_Missense_Mutation_p.G193R NM_001256761.1 NP_001243690.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 0 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) CCCTGTGATTGGACTGAGGGA 0.443000 35 23 0 0 1 0 0 PPFIA3 8541 broad.mit.edu 37 19 49640045 49640045 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:49640045C>T ENST00000334186.4 + 15 2079 c.1730C>T c.(1729-1731)tCc>tTc p.S577F PPFIA3_ENST00000602351.1_Missense_Mutation_p.S577F NM_003660.2 NP_003651.1 O75145 LIPA3_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 577 cell surface|cytoplasm protein binding NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1) 35 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) CTGGACGGCTCCGATGAGGAG 0.647000 3 9 0 0 1 0 0 SYN2 6854 broad.mit.edu 37 3 12211286 12211286 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:12211286G>A ENST00000432424.2 + 0 1360 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 CACTGATTGGGGAACATCAGG 0.532000 75 202 0 0 1 0 0 PTPRT 11122 broad.mit.edu 37 20 40743942 40743942 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:40743942C>T ENST00000373198.3 - 23 3297 c.3062G>A c.(3061-3063)cGa>cAa p.R1021Q PTPRT_ENST00000356100.2_Missense_Mutation_p.R1008Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R999Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1009Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R998Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1002Q|PTPRT_ENST00000373201.1_Missense_Mutation_p.R989Q NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 999 Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGGCCAGTATCGCACACATTT 0.507000 24 71 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27480728 27480728 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:27480728G>A ENST00000356183.4 - 32 4973 c.4958C>T c.(4957-4959)tCc>tTc p.S1653F GTF3C1_ENST00000561623.1_Missense_Mutation_p.S1653F NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 1653 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GATGCCGGGGGAGTAGTAGCC 0.617000 10 23 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176306731 176306731 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:176306731C>T ENST00000329542.4 + 15 2647 c.2373C>T c.(2371-2373)agC>agT p.S791S UNC5A_ENST00000261961.3_Silent_p.S751S NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 791 Death. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCATCTCAGCTTCTTTGCCT 0.706000 9 31 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241689879 241689879 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:241689879C>T ENST00000498729.2 - 28 3190 c.2944G>A c.(2944-2946)Ggc>Agc p.G982S KIF1A_ENST00000320389.7_Missense_Mutation_p.G881S NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 881 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CGGAGGAAGCCCTTCACCTCG 0.642000 5 31 0 0 1 0 0 SAGE1 55511 broad.mit.edu 37 X 134990687 134990687 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:134990687G>A ENST00000535938.1 + 12 1519 c.1352G>A c.(1351-1353)cGa>cAa p.R451Q SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.R451Q|SAGE1_ENST00000324447.3_Missense_Mutation_p.R451Q NM_018666.2 NP_061136.2 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 451 p.R451Q(1) breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 Acute lymphoblastic leukemia(192;0.000127) AATGGCCAACGAAAACAGGAT 0.428000 38 19 0 0 1 0 0 OR6C76 390326 broad.mit.edu 37 12 55820975 55820975 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:55820975G>A ENST00000328314.3 + 1 938 c.936_splice c.e1+1 p.*313_splice NM_001005183.1 NP_001005183.1 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, member 76 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 AAAAAACACTGATTTGAATGC 0.318000 4 14 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77755026 77755026 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:77755026C>T ENST00000354212.4 - 20 3805 c.3552G>A c.(3550-3552)agG>agA p.R1184R MAGI2_ENST00000419488.1_Silent_p.R1170R|MAGI2_ENST00000522391.1_Silent_p.R1184R NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1184 PDZ 6. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TCCTCCCATTCCTTATTGCTG 0.413000 18 39 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103291376 103291376 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:103291376G>A ENST00000520539.1 - 43 6668 c.6062C>T c.(6061-6063)cCa>cTa p.P2021L UBR5_ENST00000220959.4_Missense_Mutation_p.P2021L|UBR5_ENST00000521922.1_Missense_Mutation_p.P2015L NM_015902.5 NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2021 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TCGGAAAAATGGATGGTTTTG 0.418000 14 61 0 0 1 0 0 OR4N2 390429 broad.mit.edu 37 14 20296110 20296110 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:20296110T>A ENST00000315947.1 + 1 503 c.503T>A c.(502-504)tTt>tAt p.F168Y OR4N2_ENST00000568211.1_Missense_Mutation_p.F168Y NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CGCTTGCCTTTTTGTGGCCCA 0.522000 33 270 0 0 1 0 0 CA4 762 broad.mit.edu 37 17 58235697 58235697 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:58235697G>A ENST00000300900.4 + 7 733 c.634G>A c.(634-636)Gag>Aag p.E212K NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 212 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) CCCCAAGGAGGAGAAACTGAG 0.582000 34 27 0 0 1 0 0 TXLNB 167838 broad.mit.edu 37 6 139591716 139591716 + Missense_Mutation SNP C C G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:139591716C>G ENST00000358430.3 - 4 796 c.564G>C c.(562-564)aaG>aaC p.K188N NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 188 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) GTACCTGTTTCTTTTGGAGGA 0.448000 11 31 0 0 1 0 0 NSUN2 54888 broad.mit.edu 37 5 6616888 6616888 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:6616888G>A ENST00000264670.6 - 9 1284 c.973C>T c.(973-975)Cct>Tct p.P325S NSUN2_ENST00000539938.1_Missense_Mutation_p.P89S|NSUN2_ENST00000506139.1_Missense_Mutation_p.P290S NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 325 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 TCCTCAATAGGGTTTAGTGAA 0.458000 42 35 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377862 113377862 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:113377862G>A ENST00000316407.4 - 7 3077 c.2667C>T c.(2665-2667)tcC>tcT p.S889S KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.S889S NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 889 Ser-rich. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 AGGGTGGGCTGGACTTTTCTG 0.418000 30 86 0 0 1 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52004848 52004848 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:52004848G>A ENST00000291707.3 - 1 195 c.140C>T c.(139-141)tCc>tTc p.S47F NM_053003.2 NP_443729.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 47 Ig-like V-type 1. cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TTGGGGGTAGGAGAAGGAGCA 0.567000 12 45 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65266682 65266682 + RNA SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:65266682A>T ENST00000534336.1 + 0 1450 NR_002819.2 TTTTTAACGTAATTTTAATAG 0.274000 3 17 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29552206 29552206 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:29552206C>T ENST00000358273.4 + 17 2322 c.1939C>T c.(1939-1941)Cat>Tat p.H647Y NF1_ENST00000356175.3_Missense_Mutation_p.H647Y NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 647 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.?(4) 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) GTCCATGGATCATGAAGAATT 0.418000 """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) 32 93 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000673 14000673 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:14000673G>A ENST00000454313.1 - 6 1054 c.996C>T c.(994-996)tcC>tcT p.S332S C19orf57_ENST00000346736.2_Silent_p.S332S|C19orf57_ENST00000586783.1_Silent_p.S332S|C19orf57_ENST00000591586.1_Intron Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 332 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) TCCCGAGGGAGGAGCATCCCA 0.662000 12 21 0 0 1 0 0 MOAP1 64112 broad.mit.edu 37 14 93650029 93650029 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:93650029G>A ENST00000556883.1 - 2 1043 c.559C>T c.(559-561)Cat>Tat p.H187Y MOAP1_ENST00000298894.4_Missense_Mutation_p.H187Y Q96BY2 MOAP1_HUMAN modulator of apoptosis 1 187 activation of caspase activity|apoptotic nuclear change cytoplasm protein homodimerization activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2) 13 all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13) Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204) tgagtagtatgaaacatccag 0.493000 20 43 0 0 1 0 0 CCNJL 79616 broad.mit.edu 37 5 159680441 159680441 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:159680441C>T ENST00000393977.3 - 7 1537 c.1252G>A c.(1252-1254)Gga>Aga p.G418R CCNJL_ENST00000377503.2_5'UTR|CCNJL_ENST00000257536.7_Missense_Mutation_p.G370R NM_024565.5 NP_078841.3 Q8IV13 CCNJL_HUMAN cyclin J-like 418 nucleus endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TAGCTGCTTCCATAGGTGGTG 0.597000 16 38 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68011700 68011700 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:68011700C>T ENST00000268793.4 - 6 1237 c.864G>A c.(862-864)atG>atA p.M288I NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 263 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) AATCTATCATCATGCCCAGGC 0.493000 10 10 0 0 1 0 0 UPK3A 7380 broad.mit.edu 37 22 45691514 45691514 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:45691514G>A ENST00000216211.4 + 6 810 c.778G>A c.(778-780)Ggg>Agg p.G260R UPK3A_ENST00000396082.2_Missense_Mutation_p.G139R NM_006953.3 NP_008884.1 O75631 UPK3A_HUMAN uroplakin 3A 260 epithelial cell differentiation endoplasmic reticulum membrane|integral to membrane kidney(1)|large_intestine(1)|lung(2)|skin(1) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CAAGTCGCTGGGGGCCTCGGA 0.612000 18 77 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28509498 28509498 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:28509498C>T ENST00000564831.1 + 3 3085 c.3052C>T c.(3052-3054)Cgt>Tgt p.R1018C APOBR_ENST00000328423.5_Missense_Mutation_p.R1009C|APOBR_ENST00000431282.1_Missense_Mutation_p.R1009C NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 1009 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 GCCCTCTTTTCGTCGGACTCC 0.682000 6 11 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106152112 106152112 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:106152112C>T ENST00000369704.3 + 10 1621 c.1487C>T c.(1486-1488)tCa>tTa p.S496L NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 496 S -> T (in dbSNP:rs11192036). NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) GCTGTGAGATCAGACAGAAAT 0.299000 30 47 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61490981 61490981 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:61490981G>A ENST00000257215.5 + 5 601 c.485G>A c.(484-486)cGc>cAc p.R162H NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 162 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CCCACGGGCCGCACCTTTGTC 0.617000 4 95 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7804297 7804297 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:7804297C>T ENST00000380358.4 + 19 3284 c.3283C>T c.(3283-3285)Ccc>Tcc p.P1095S CHD3_ENST00000330494.7_Missense_Mutation_p.P1036S|CHD3_ENST00000358181.4_Missense_Mutation_p.P1036S NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1036 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) ATACCTTTTTCCCGTGGCTGC 0.498000 17 46 0 0 1 0 0 GALNT11 63917 broad.mit.edu 37 7 151791477 151791477 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:151791477C>T ENST00000434507.1 + 4 602 c.165C>T c.(163-165)ttC>ttT p.F55F GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000430044.2_Silent_p.F55F|GALNT11_ENST00000415421.1_Silent_p.F55F|GALNT11_ENST00000320311.2_Silent_p.F55F|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000422997.2_Silent_p.F55F Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 55 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) CAAAAAAATTCTATCCCCGTT 0.463000 39 65 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178581184 178581184 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:178581184C>T ENST00000251582.7 - 8 1349 c.1248G>A c.(1246-1248)atG>atA p.M416I ADAMTS2_ENST00000274609.5_Missense_Mutation_p.M416I NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 416 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) CGTCGTGCTCCATGCCCAGCC 0.692000 3 6 0 0 1 0 0 NRXN3 9369 broad.mit.edu 37 14 79434518 79434518 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:79434518G>A ENST00000554719.1 + 11 2343 c.1852G>A c.(1852-1854)Gat>Aat p.D618N NRXN3_ENST00000335750.5_Missense_Mutation_p.D618N NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 222 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) CTTTCCAGGTGATCTCTATAT 0.448000 15 31 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228521296 228521296 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:228521296C>T ENST00000570156.2 + 70 18814 c.18740C>T c.(18739-18741)cCc>cTc p.P6247L OBSCN_ENST00000366707.4_Missense_Mutation_p.P2924L|OBSCN_ENST00000284548.11_Missense_Mutation_p.P5290L|OBSCN_ENST00000422127.1_Missense_Mutation_p.P5290L|OBSCN_ENST00000366709.4_Missense_Mutation_p.P2409L NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 5290 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TACCCTGCTCCCAGATTATAC 0.602000 3 7 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123843413 123843413 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:123843413G>A ENST00000369005.1 + 4 1738 c.1398G>A c.(1396-1398)gtG>gtA p.V466V TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Silent_p.V466V|TACC2_ENST00000453444.2_Silent_p.V466V|TACC2_ENST00000515273.1_Silent_p.V466V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.V466V NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 466 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) CAGGGTTGGTGGGACTGGAGA 0.572000 40 87 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56487660 56487660 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:56487660C>T ENST00000267101.3 + 13 2033 c.1593C>T c.(1591-1593)acC>acT p.T531T ERBB3_ENST00000415288.2_Silent_p.T472T|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 531 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TCTGTGTGACCCACTGCAACT 0.557000 37 74 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66473159 66473159 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:66473159C>T ENST00000533211.1 - 14 2134 c.1803G>A c.(1801-1803)ggG>ggA p.G601G SPTBN2_ENST00000309996.2_Silent_p.G601G|SPTBN2_ENST00000529997.1_Silent_p.G601G O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 601 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 TCTCACCTTTCCCTGGGTTGC 0.647000 9 23 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10672717 10672717 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:10672717G>A ENST00000302079.6 - 50 7786 c.7787C>T c.(7786-7788)cCc>cTc p.P2596L PIEZO2_ENST00000580640.1_Missense_Mutation_p.P2684L|PIEZO2_ENST00000285141.4_Missense_Mutation_p.P451L|PIEZO2_ENST00000538948.1_Missense_Mutation_p.P616L|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000503781.3_Missense_Mutation_p.P2659L Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2659 integral to membrane ion channel activity CAGACTTGGGGGACTGACTTT 0.458000 26 77 0 0 1 0 0 FRS3 10817 broad.mit.edu 37 6 41738772 41738772 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:41738772G>A ENST00000373018.3 - 7 1315 c.1064C>T c.(1063-1065)cCc>cTc p.P355L FRS3_ENST00000259748.2_Missense_Mutation_p.P355L NM_006653.3 NP_006644.1 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 355 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) ATTGGAAGAGGGTGTGAGCCC 0.652000 54 51 0 0 1 0 0 PLCD4 84812 broad.mit.edu 37 2 219483457 219483457 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:219483457C>T ENST00000450993.2 + 4 676 c.337C>T c.(337-339)Cag>Tag p.Q113* PLCD4_ENST00000432688.1_Nonsense_Mutation_p.Q113*|PLCD4_ENST00000417849.1_Nonsense_Mutation_p.Q113* NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 113 PH. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGAGGAGGCCCAGATATGGAT 0.612000 12 4 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56465911 56465911 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:56465911C>T ENST00000291971.3 + 3 558 c.487C>T c.(487-489)Ccc>Tcc p.P163S NLRP8_ENST00000590542.1_Missense_Mutation_p.P163S NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 163 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AAAGTTTTTCCCCATATGGGA 0.438000 21 50 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73555367 73555367 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:73555367C>T ENST00000392550.3 + 6 523 c.406C>T c.(406-408)Ctg>Ttg p.L136L LLGL2_ENST00000577200.1_Silent_p.L136L|LLGL2_ENST00000375227.4_Silent_p.L136L|LLGL2_ENST00000578363.1_Silent_p.L136L|LLGL2_ENST00000167462.5_Silent_p.L136L NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 136 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CACCGTGGTCCTGCCACATTC 0.637000 10 35 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54849767 54849767 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:54849767G>A ENST00000291759.4 - 3 311 c.255C>T c.(253-255)atC>atT p.I85I NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 85 Ig-like C2-type 1. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TCATGGATGGGATGGAGAGTT 0.537000 25 68 0 0 1 0 0 C3orf20 84077 broad.mit.edu 37 3 14814336 14814336 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:14814336G>A ENST00000253697.3 + 17 3121 c.2669G>A c.(2668-2670)aGg>aAg p.R890K C3orf20_ENST00000412910.1_Missense_Mutation_p.R768K|C3orf20_ENST00000435614.1_Missense_Mutation_p.R768K NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 890 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 CCTCTCAGCAGGGACAGCAAG 0.592000 7 33 0 0 1 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874201 31874201 + Missense_Mutation SNP C C T rs73186218 by1000genomes TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:31874201C>T ENST00000334151.2 - 1 234 c.208G>A c.(208-210)Gga>Aga p.G70R NM_181611.1 NP_853642.1 Q3LI72 KR195_HUMAN keratin associated protein 19-5 70 intermediate filament protein binding endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1) 12 CAATAAAATCCAGAGAATCCA 0.502000 24 59 0 0 1 0 0 OTOP3 347741 broad.mit.edu 37 17 72937809 72937809 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:72937809C>T ENST00000328801.4 + 2 395 c.395C>T c.(394-396)tCc>tTc p.S132F NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 132 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) AAGGTCCTCTCCCTGCTTTGG 0.627000 17 51 0 0 1 0 0 SYNE3 161176 broad.mit.edu 37 14 95903265 95903265 + Silent SNP C C G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:95903265C>G ENST00000334258.5 - 14 2444 c.2430G>C c.(2428-2430)ctG>ctC p.L810L SYNE3_ENST00000554873.1_Silent_p.L567L|SYNE3_ENST00000557275.1_Silent_p.L805L NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 CAAAGTTCCTCAGGAGCTGGG 0.502000 20 67 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27087554 27087554 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:27087554C>T ENST00000324856.7 + 5 2499 c.2128C>T c.(2128-2130)Cgc>Tgc p.R710C ARID1A_ENST00000374152.2_Missense_Mutation_p.R327C|ARID1A_ENST00000457599.2_Missense_Mutation_p.R710C NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 710 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TGCTCAGTCTCGCTCAGGACC 0.602000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 14 37 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 80071573 80071573 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:80071573G>A ENST00000265081.6 + 16 2394 c.2314G>A c.(2314-2316)Gga>Aga p.G772R NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 772 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) GGTAAAGGTTGGAAGGTAGGT 0.303000 Mismatch excision repair (MMR) 4 16 0 0 1 0 0 RPS4Y1 6192 broad.mit.edu 37 Y 2712265 2712265 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrY:2712265C>T ENST00000250784.8 + 3 368 c.229C>T c.(229-231)Cga>Tga p.R77* NM_001008.3 NP_000999.1 ribosomal protein S4, Y-linked 1 kidney(1)|lung(2) 3 TGGCAAGGTTCGAGTGGATGT 0.423000 43 26 0 0 1 0 0 ECSIT 51295 broad.mit.edu 37 19 11624724 11624724 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:11624724G>A ENST00000270517.7 - 3 544 c.409C>T c.(409-411)Ccc>Tcc p.P137S ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.P137S|ECSIT_ENST00000592312.1_Missense_Mutation_p.P21S|ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000591104.1_Missense_Mutation_p.P137S NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 137 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 ACCTCCTTGGGGAAGATGTTG 0.592000 12 33 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130877630 130877630 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:130877630G>A ENST00000357462.5 - 1 552 c.459C>T c.(457-459)ccC>ccT p.P153P POTEF_ENST00000409914.2_Silent_p.P153P|POTEF_ENST00000360967.5_Silent_p.P153P|POTEF_ENST00000361163.4_Silent_p.P153P A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 153 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 GATCCTTTCTGGGGACTTTAC 0.582000 4 82 0 0 1 0 0 NLRP1 22861 broad.mit.edu 37 17 5433822 5433822 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:5433822G>A ENST00000345221.3 - 12 4053 c.3499C>T c.(3499-3501)Cct>Tct p.P1167S NLRP1_ENST00000354411.3_Missense_Mutation_p.P1137S|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000572272.1_Missense_Mutation_p.P1167S|NLRP1_ENST00000262467.5_Missense_Mutation_p.P1171S|NLRP1_ENST00000269280.4_Missense_Mutation_p.P1167S|NLRP1_ENST00000577119.1_Missense_Mutation_p.P1137S NM_014922.4|NM_033004.3|NM_033007.3 NP_055737.1|NP_127497.1|NP_127500.1 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 1167 defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Colorectal(1115;3.48e-05) ACAAAGTGAGGGAGGTGCACA 0.547000 5 36 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4714878 4714878 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:4714878G>A ENST00000354582.6 + 21 2613 c.2263G>A c.(2263-2265)Gaa>Aaa p.E755K ITPR1_ENST00000423119.2_Missense_Mutation_p.E755K|ITPR1_ENST00000357086.4_Missense_Mutation_p.E755K|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.E740K|ITPR1_ENST00000302640.8_Missense_Mutation_p.E740K|ITPR1_ENST00000443694.2_Missense_Mutation_p.E740K Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 755 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGCCATCAACGAAATCTCAGG 0.542000 6 20 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70990578 70990578 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:70990578G>A ENST00000256389.3 - 2 1291 c.1047C>T c.(1045-1047)ttC>ttT p.F349F RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 299 Peptidase M12B. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TGTCTTTTATGAAAAGATGTG 0.353000 16 43 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100677635 100677635 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:100677635G>A ENST00000306151.4 + 3 3002 c.2938G>A c.(2938-2940)Gaa>Aaa p.E980K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 980 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.E980K(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GACTCCTAGTGAAGGAACGAC 0.512000 88 193 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28934626 28934626 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:28934626C>T ENST00000257192.4 + 15 2679 c.2467C>T c.(2467-2469)Cct>Tct p.P823S RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.P182S|RP11-534N16.1_ENST00000581856.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 823 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TGTACTGCATCCTAAGCCTAT 0.517000 36 93 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120428772 120428772 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:120428772C>T ENST00000222747.3 - 8 1399 c.792G>A c.(790-792)aaG>aaA p.K264K TSPAN12_ENST00000415871.1_Silent_p.K264K NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 264 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) AGTTGTCATTCTTCAAGGACA 0.458000 28 66 0 0 1 0 0 GAB3 139716 broad.mit.edu 37 X 153924289 153924289 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:153924289C>T ENST00000369575.3 - 8 1461 c.1430G>A c.(1429-1431)cGa>cAa p.R477Q GAB3_ENST00000424127.2_Missense_Mutation_p.R478Q|GAB3_ENST00000496390.1_5'UTR NM_001081573.1|NM_080612.2 NP_001075042.1|NP_542179.1 Q8WWW8 GAB3_HUMAN GRB2-associated binding protein 3 477 NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1) 25 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AAAGCTGGTTCGACTGCTAAG 0.418000 3 5 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298427 107298427 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:107298427G>A ENST00000374781.2 - 1 710 c.668C>T c.(667-669)tCc>tTc p.S223F NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 AATATTGAGGGATATATCAGC 0.393000 18 63 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179634823 179634823 + Missense_Mutation SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:179634823C>A ENST00000589042.1 - 36 8829 c.8605G>T c.(8605-8607)Ggg>Tgg p.G2869W TTN_ENST00000342175.6_Missense_Mutation_p.G2823W|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G2869W|TTN_ENST00000591111.1_Missense_Mutation_p.G2869W|TTN_ENST00000460472.2_Missense_Mutation_p.G2823W|TTN_ENST00000360870.5_Missense_Mutation_p.G2869W|TTN_ENST00000359218.5_Missense_Mutation_p.G2823W NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2607 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) TCCAATTGCCCGACCACAGCT 0.483000 4 117 1 1 1 1 0 AHNAK2 113146 broad.mit.edu 37 14 105406934 105406934 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:105406934G>A ENST00000333244.5 - 7 14973 c.14854C>T c.(14854-14856)Ccc>Tcc p.P4952S AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4952 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) ATTTTCAAGGGACTCCCTTTC 0.537000 17 25 0 0 1 0 0 DNPEP 23549 broad.mit.edu 37 2 220247899 220247899 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:220247899G>A ENST00000273075.4 - 10 1110 c.890C>T c.(889-891)gCc>gTc p.A297V DNPEP_ENST00000523282.1_Missense_Mutation_p.A305V|DNPEP_ENST00000373972.1_Missense_Mutation_p.A222V NM_012100.2 NP_036232.2 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 287 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) AGGCTCTGTGGCCAGGGAGCC 0.577000 32 24 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629871 9629871 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:9629871C>T ENST00000382492.2 - 1 592 c.274G>A c.(274-276)Gaa>Aaa p.E92K CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 92 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AGCCAAAGTTCCAATTCATTT 0.413000 6 19 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111080842 111080842 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:111080842G>A ENST00000360467.5 + 7 695 c.389G>A c.(388-390)gGa>gAa p.G130E NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 130 angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) GGGCCCAGGGGAAGGCCGGGC 0.622000 24 58 0 0 1 0 0 PDHA2 5161 broad.mit.edu 37 4 96761629 96761629 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:96761629G>A ENST00000295266.4 + 1 391 c.328G>A c.(328-330)Gat>Aat p.D110N NM_005390.4 NP_005381.1 P29803 ODPAT_HUMAN pyruvate dehydrogenase (lipoamide) alpha 2 110 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) AAACCCCTCGGATCACGTCAT 0.522000 29 73 0 0 1 0 0 HBG2 3048 broad.mit.edu 37 11 5274520 5274520 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:5274520G>A ENST00000380259.2 - 8 1671 c.431C>T c.(430-432)tCc>tTc p.S144F HBG2_ENST00000336906.4_Missense_Mutation_p.S144F|HBG2_ENST00000380252.1_Missense_Mutation_p.S134F hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGGTATCTGGAGGACAGGGC 0.483000 30 43 0 0 1 0 0 TRAJ23 28732 broad.mit.edu 37 14 22989409 22989409 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:22989409G>A ENST00000390514.1 + 0 16 TATAACCAGGGAGGAAAGCTT 0.428000 29 62 0 0 1 0 0 C5orf45 51149 broad.mit.edu 37 5 179268988 179268988 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:179268988G>A ENST00000518219.1 - 5 379 c.368C>T c.(367-369)aCa>aTa p.T123I C5orf45_ENST00000376931.2_Missense_Mutation_p.T68I|C5orf45_ENST00000521333.1_Intron|C5orf45_ENST00000403396.2_Missense_Mutation_p.T165I|C5orf45_ENST00000518235.1_Missense_Mutation_p.T123I|C5orf45_ENST00000523267.1_Intron|C5orf45_ENST00000523084.1_5'UTR|C5orf45_ENST00000292586.6_Missense_Mutation_p.T123I|C5orf45_ENST00000520698.1_Missense_Mutation_p.T68I Q6NTE8 CE045_HUMAN chromosome 5 open reading frame 45 123 breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1) 12 ACACACTCCTGTTCCTTCCAG 0.502000 80 209 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594265 140594265 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140594265G>A ENST00000341948.4 + 1 757 c.570G>A c.(568-570)agG>agA p.R190R NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 190 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTGATGGCAGGAAATACCCAG 0.512000 6 35 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542946 133542946 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:133542946C>T ENST00000409261.1 - 14 1811 c.1438G>A c.(1438-1440)Gat>Aat p.D480N NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.D480N NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 480 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GAAGGGTCATCGTCCGCATCA 0.517000 61 40 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88913278 88913278 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:88913278G>A ENST00000303236.3 - 2 703 c.402C>T c.(400-402)tcC>tcT p.S134S EIF2AK3_ENST00000419748.1_5'UTR NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 134 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 CCAAGGAACCGGATCCCACAT 0.378000 62 166 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89386648 89386648 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:89386648C>T ENST00000439576.2 + 6 1194 c.820C>T c.(820-822)Cgg>Tgg p.R274W ACAN_ENST00000352105.7_Missense_Mutation_p.R274W|ACAN_ENST00000561243.1_Missense_Mutation_p.R274W|ACAN_ENST00000559004.1_Missense_Mutation_p.R274W|ACAN_ENST00000558207.1_Missense_Mutation_p.R274W NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 274 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CAATGAGTGCCGGCGGCTGGG 0.637000 10 13 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197111966 197111966 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:197111966A>T ENST00000367409.4 - 3 1672 c.1416T>A c.(1414-1416)ttT>ttA p.F472L ASPM_ENST00000294732.7_Missense_Mutation_p.F472L NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 472 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GAACTGCAGAAAATTTAGGAT 0.348000 35 68 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846886 123846886 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:123846886C>T ENST00000369005.1 + 4 5211 c.4871C>T c.(4870-4872)cCa>cTa p.P1624L TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.P1624L|TACC2_ENST00000453444.2_Missense_Mutation_p.P1624L|TACC2_ENST00000515273.1_Missense_Mutation_p.P1624L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P1624L NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1624 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) ACAGGGGTTCCAGGACATGTG 0.572000 9 43 0 0 1 0 0 GIMAP2 26157 broad.mit.edu 37 7 150390257 150390257 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:150390257T>A ENST00000223293.5 + 3 977 c.883T>A c.(883-885)Tgc>Agc p.C295S NM_015660.2 NP_056475.1 Q9UG22 GIMA2_HUMAN GTPase, IMAP family member 2 295 integral to membrane GTP binding kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1) 13 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GCACAGCATGTGCAATTTGTT 0.318000 5 22 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43236939 43236939 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:43236939G>A ENST00000327495.5 - 3 890 c.706C>T c.(706-708)Ctc>Ttc p.L236F PSG3_ENST00000595140.1_Missense_Mutation_p.L236F NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 236 defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) TACTCACGGAGGAGATTCAGG 0.537000 68 197 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120293494 120293494 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:120293494G>A ENST00000369406.3 - 9 1507 c.1458C>T c.(1456-1458)ttC>ttT p.F486F HMGCS2_ENST00000544913.2_Silent_p.F444F NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 486 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) AAGTACCTGGGAAAAGGCTGT 0.498000 74 160 0 0 1 0 0 GALNT13 114805 broad.mit.edu 37 2 155102446 155102446 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:155102446C>T ENST00000392825.3 + 7 1375 c.808C>T c.(808-810)Ccc>Tcc p.P270S GALNT13_ENST00000409237.1_Missense_Mutation_p.P270S NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 270 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 GTATCCTGTTCCCCAAAGAGA 0.388000 23 12 0 0 1 0 0 MICB 4277 broad.mit.edu 37 6 31473645 31473645 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:31473645G>A ENST00000252229.6 + 2 401 c.322G>A c.(322-324)Gga>Aga p.G108R MICB_ENST00000538442.1_Missense_Mutation_p.G76R|MICB_ENST00000399150.3_Missense_Mutation_p.G108R NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 108 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 GGACCAGAAAGGAGGTGAGAG 0.562000 12 3 0 0 1 0 0 GP6 51206 broad.mit.edu 37 19 55526073 55526073 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:55526073C>T ENST00000310373.3 - 8 1267 c.1240G>A c.(1240-1242)Gat>Aat p.D414N GP6_ENST00000333884.2_3'UTR|GP6_ENST00000417454.1_3'UTR|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 32 enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) TTCCTTCCATCCCAAATGGAG 0.577000 25 51 0 0 1 0 0 FAM86HP 729375 broad.mit.edu 37 3 129823041 129823041 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:129823041C>T ENST00000500074.2 - 0 356 TCTTGATGGCCCATTCTGCAA 0.607000 5 15 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42353223 42353223 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:42353223G>A ENST00000269945.3 + 6 705 c.654G>A c.(652-654)caG>caA p.Q218Q DMRTC2_ENST00000596827.1_Silent_p.Q218Q NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 218 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 CCTCCCTCCAGCTGCCCACTC 0.572000 41 106 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120009233 120009233 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:120009233C>T ENST00000371311.3 - 1 546 c.292G>A c.(292-294)Gaa>Aaa p.E98K NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 98 Poly-Glu. breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 ttcccctcttcctcctcctcc 0.697000 9 6 0 0 1 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69101961 69101961 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:69101961C>T ENST00000332644.5 - 3 309 c.148G>A c.(148-150)Gat>Aat p.D50N NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 50 SEA. proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1) 27 ATATGAAAATCACCTTGATAA 0.328000 5 10 0 0 1 0 0 RHBG 57127 broad.mit.edu 37 1 156351962 156351962 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:156351962G>A ENST00000400992.2 + 7 1354 c.986G>A c.(985-987)gGa>gAa p.G329E RHBG_ENST00000368249.1_Missense_Mutation_p.G361E|RHBG_ENST00000255013.3_Missense_Mutation_p.G292E|RHBG_ENST00000537040.1_Missense_Mutation_p.D194N|RHBG_ENST00000368246.2_Missense_Mutation_p.G361E|RHBG_ENST00000494874.1_3'UTR|RHBG_ENST00000451864.2_Missense_Mutation_p.G283E Q9H310 RHBG_HUMAN Rh family, B glycoprotein (gene/pseudogene) 361 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) CTTGTGGCTGGACTTGCCACC 0.542000 35 86 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997368 115997368 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:115997368C>T ENST00000264363.2 - 2 1503 c.825G>A c.(823-825)ttG>ttA p.L275L NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 275 Heparan sulfate N-deacetylase 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) GCCAAAAGTTCAAGTTGTTGC 0.453000 25 76 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118523964 118523964 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:118523964G>A ENST00000336338.5 - 43 5998 c.5933C>T c.(5932-5934)cCa>cTa p.P1978L SPAG17_ENST00000492438.1_5'UTR NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1978 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AGAAATCTCTGGTTTTGGAAG 0.348000 21 43 0 0 1 0 0 KRT2 3849 broad.mit.edu 37 12 53042002 53042002 + Silent SNP G G A rs138032518 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:53042002G>A ENST00000309680.3 - 5 1098 c.1077C>T c.(1075-1077)atC>atT p.I359I NM_000423.2 NP_000414.2 P35908 K22E_HUMAN keratin 2 359 Coil 2.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 BRCA - Breast invasive adenocarcinoma(357;0.19) TCCTCTGGGCGATCTCCTCAT 0.567000 31 101 0 0 1 0 0 EXD1 161829 broad.mit.edu 37 15 41483784 41483784 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:41483784C>T ENST00000314992.5 - 8 737 c.e8-1 EXD1_ENST00000458580.2_Splice_Site NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 CATCTGCTACCTGTGGTATTT 0.378000 7 32 0 0 1 0 0 CASZ1 54897 broad.mit.edu 37 1 10713789 10713789 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:10713789C>T ENST00000377022.3 - 11 2642 c.2325G>A c.(2323-2325)ctG>ctA p.L775L CASZ1_ENST00000344008.5_Silent_p.L775L|RP4-734G22.3_ENST00000606802.1_RNA NM_001079843.1 NP_001073312.1 Q86V15 CASZ1_HUMAN castor zinc finger 1 775 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1) 54 Ovarian(185;0.203)|all_lung(157;0.204) Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.0224) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623) CCTGGGGCAGCAGCCCCGAGA 0.701000 16 35 0 0 1 0 0 CAPS2 84698 broad.mit.edu 37 12 75687068 75687068 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:75687068C>T ENST00000393284.3 - 12 1086 c.485G>A c.(484-486)cGa>cAa p.R162Q CAPS2_ENST00000442339.2_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.R312Q|CAPS2_ENST00000409445.3_Missense_Mutation_p.R394Q|CAPS2_ENST00000409004.1_5'UTR|RP11-560G2.1_ENST00000549953.1_RNA Q9BXY5 CAYP2_HUMAN calcyphosine 2 394 calcium ion binding endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 10 ATTTGTGATTCGGAGTTTAAG 0.318000 6 37 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43579531 43579531 + Missense_Mutation SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:43579531A>C ENST00000406487.1 - 3 782 c.684T>G c.(682-684)agT>agG p.S228R NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 228 Ig-like C2-type 1. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TGACTGGGTCACTGCGGCTGG 0.527000 73 231 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29222183 29222183 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:29222183G>A ENST00000379558.4 + 4 627 c.276G>A c.(274-276)agG>agA p.R92R FAM179A_ENST00000403861.2_Silent_p.R92R NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 92 binding p.R92S(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GTCACCCCAGGAACCTCAGGG 0.632000 7 21 0 0 1 0 0 LDLRAD1 388633 broad.mit.edu 37 1 54483769 54483769 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:54483769G>A ENST00000371360.1 - 1 34 c.17C>T c.(16-18)cCc>cTc p.P6L LDLRAD1_ENST00000545928.1_Missense_Mutation_p.P6L|LDLRAD1_ENST00000371362.3_Missense_Mutation_p.P6L|LDLRAD1_ENST00000420619.1_Silent_p.P27P NM_001010978.2 NP_001010978.2 Q5T700 LRAD1_HUMAN low density lipoprotein receptor class A domain containing 1 6 integral to membrane receptor activity large_intestine(3)|prostate(1)|skin(3) 7 TCTCACCTGGGGGAAGACCTT 0.582000 11 35 0 0 1 0 0 ZNF132 7691 broad.mit.edu 37 19 58946388 58946388 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:58946388G>A ENST00000254166.3 - 3 823 c.423C>T c.(421-423)ccC>ccT p.P141P NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 141 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) CACATGTGTAGGGTTTCTCCT 0.498000 32 71 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158093791 158093791 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:158093791C>T ENST00000359775.5 + 9 1993 c.1104C>T c.(1102-1104)ttC>ttT p.F368F ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Intron Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 368 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) GCACCAAATTCGTTTTGCAGG 0.667000 15 19 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16875936 16875936 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:16875936C>T ENST00000524140.2 + 10 2761 c.2343C>T c.(2341-2343)tcC>tcT p.S781S NWD1_ENST00000523826.1_Silent_p.S575S|NWD1_ENST00000379808.3_Silent_p.S781S|NWD1_ENST00000552788.1_Silent_p.S781S|NWD1_ENST00000339803.6_Silent_p.S646S|NWD1_ENST00000549814.1_Silent_p.S781S NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 781 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 ACCTGGACTCCCCTGAGGTTG 0.627000 10 38 0 0 1 0 0 CUL3 8452 broad.mit.edu 37 2 225360656 225360656 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:225360656C>T ENST00000264414.4 - 13 2073 c.1735G>A c.(1735-1737)Ggt>Agt p.G579S CUL3_ENST00000409777.1_Missense_Mutation_p.G555S|CUL3_ENST00000344951.4_Missense_Mutation_p.G513S|CUL3_ENST00000409096.1_Missense_Mutation_p.G555S NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 579 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) ACTTGTGCACCTCCAACACCA 0.333000 17 35 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23902316 23902316 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:23902316G>A ENST00000355349.3 - 4 484 c.322C>T c.(322-324)Cgc>Tgc p.R108C NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 108 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) GAGCCGTAGCGATCCTTGAGG 0.572000 21 32 0 0 1 0 0 LAD1 3898 broad.mit.edu 37 1 201356074 201356074 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:201356074C>T ENST00000391967.2 - 3 716 c.415G>A c.(415-417)Gaa>Aaa p.E139K LAD1_ENST00000367313.3_Missense_Mutation_p.E153K NM_005558.3 NP_005549.2 O00515 LAD1_HUMAN ladinin 1 139 basement membrane structural molecule activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2) 19 GGTGGGATTTCCAGTTCCTTC 0.632000 12 57 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303843 151303843 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:151303843G>A ENST00000370323.4 - 4 566 c.250C>T c.(250-252)Ccc>Tcc p.P84S MAGEA10_ENST00000244096.3_Missense_Mutation_p.P84S|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 84 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GCACTCTGGGGAGGATTTGGT 0.547000 75 60 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101816134 101816134 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:101816134C>T ENST00000506729.1 - 2 534 c.363G>A c.(361-363)gtG>gtA p.V121V SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Silent_p.V121V|SLCO6A1_ENST00000379807.3_Silent_p.V121V|SLCO6A1_ENST00000379810.1_Silent_p.V121V|SLCO6A1_ENST00000389019.3_Silent_p.V121V Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 121 integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) GACCAAACACCACACCTAAAA 0.303000 23 56 0 0 1 0 0 FHIT 2272 broad.mit.edu 37 3 59999827 59999827 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:59999827G>A ENST00000468189.1 - 6 525 c.155C>T c.(154-156)cCt>cTt p.P52L FHIT_ENST00000476844.1_Missense_Mutation_p.P52L|FHIT_ENST00000492590.1_Missense_Mutation_p.P52L|FHIT_ENST00000341848.4_Missense_Mutation_p.P52L|FHIT_ENST00000466788.1_Intron P49789 FHIT_HUMAN fragile histidine triad 52 HIT. nucleotide metabolic process bis(5'-adenosyl)-triphosphatase activity|protein binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1) 12 all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408) UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448) CACTTCATCAGGACGCAGGTC 0.547000 T HMGA2 pleomorphic salivary gland adenoma Renal Cell Cancer associated with constitutional translocation of chromosome 3 10 51 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9068965 9068965 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9068965G>A ENST00000397910.4 - 3 18684 c.18481C>T c.(18481-18483)Cct>Tct p.P6161S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 6163 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 ACCCCAGAAGGACCTGTTTGT 0.493000 12 39 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184401 130184401 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:130184401G>A ENST00000422113.2 - 2 1248 c.922C>T c.(922-924)Cct>Tct p.P308S NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 308 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) ATGGAAACAGGAAAAGTCAGC 0.507000 13 43 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155206484 155206484 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:155206484C>T ENST00000460012.1 - 20 2771 c.2414G>A c.(2413-2415)gGa>gAa p.G805E PLCH1_ENST00000447496.2_Missense_Mutation_p.G823E|PLCH1_ENST00000414191.1_Missense_Mutation_p.G805E|PLCH1_ENST00000340059.7_Missense_Mutation_p.G823E|PLCH1_ENST00000494598.1_Missense_Mutation_p.G823E|PLCH1_ENST00000334686.6_Missense_Mutation_p.G805E Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 823 C2. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGTTCTTTGTCCAACAAAGTC 0.443000 13 22 0 0 1 0 0 C4B 721 broad.mit.edu 37 6 31997540 31997540 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:31997540C>T ENST00000435363.2 + 29 3958 c.3874C>T c.(3874-3876)Cag>Tag p.Q1292* C4B_ENST00000425700.2_Nonsense_Mutation_p.Q1292* NM_001002029.3 NP_001002029.3 P0C0L5 CO4B_HUMAN complement component 4B (Chido blood group) 1292 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity GCTCACCCGTCAGGGCAGCTT 0.647000 31 127 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233490611 233490611 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:233490611C>T ENST00000366624.3 + 4 1426 c.1165C>T c.(1165-1167)Cca>Tca p.P389S MLK4_ENST00000366623.3_Missense_Mutation_p.P389S NM_032435.2 NP_115811.2 TCATATTCGTCCATCGTTTGC 0.388000 21 54 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120959300 120959300 + Missense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:120959300G>T ENST00000273666.6 + 14 1617 c.1346G>T c.(1345-1347)aGt>aTt p.S449I STXBP5L_ENST00000492541.1_Missense_Mutation_p.S449I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S449I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S449I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S449I NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 449 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TGGCCAATCAGTGGAGGAGCT 0.299000 9 22 1.76689e-08 1.78905e-08 1 1 0 ZNF285 26974 broad.mit.edu 37 19 44891001 44891001 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:44891001G>A ENST00000330997.4 - 4 1470 c.1406C>T c.(1405-1407)tCt>tTt p.S469F ZNF285_ENST00000591679.1_Missense_Mutation_p.S476F|ZNF285_ENST00000544719.2_Missense_Mutation_p.S469F|CTC-512J12.6_ENST00000588212.1_Intron NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 GTGAAGAACAGAGCTATACGC 0.413000 14 62 0 0 1 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587027 42587027 + Nonsense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:42587027A>T ENST00000289957.2 + 5 705 c.577A>T c.(577-579)Aaa>Taa p.K193* NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 193 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TGTCGACAGAAAAGACTTCTT 0.458000 35 49 0 0 1 0 0 NTNG1 22854 broad.mit.edu 37 1 107867198 107867198 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:107867198G>A ENST00000370067.1 + 3 1168 c.541G>A c.(541-543)Gac>Aac p.D181N NTNG1_ENST00000370061.3_Missense_Mutation_p.D181N|NTNG1_ENST00000370065.1_Missense_Mutation_p.D181N|NTNG1_ENST00000477948.1_3'UTR|NTNG1_ENST00000370066.1_Missense_Mutation_p.D181N|NTNG1_ENST00000370068.1_Missense_Mutation_p.D181N|NTNG1_ENST00000370070.2_Missense_Mutation_p.D181N|NTNG1_ENST00000370071.2_Missense_Mutation_p.D181N|NTNG1_ENST00000370072.3_Missense_Mutation_p.D181N|NTNG1_ENST00000370073.2_Missense_Mutation_p.D181N|NTNG1_ENST00000370074.4_Missense_Mutation_p.D181N|NTNG1_ENST00000542803.1_Missense_Mutation_p.D181N Q9Y2I2 NTNG1_HUMAN netrin G1 181 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1) 37 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TTATGCCACAGACTGCTTAGA 0.428000 9 40 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102604026 102604026 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:102604026C>T ENST00000393772.2 - 8 1104 c.678G>A c.(676-678)ttG>ttA p.L226L FBXL13_ENST00000313221.4_Silent_p.L226L|FBXL13_ENST00000379306.3_Silent_p.L226L|FBXL13_ENST00000455112.2_Silent_p.L226L|FBXL13_ENST00000436908.1_Silent_p.L226L|FBXL13_ENST00000379308.3_Silent_p.L226L|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000456695.1_Silent_p.L226L|FBXL13_ENST00000379305.3_Silent_p.L226L Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 226 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 CACGAAAATTCAAACGCAGCA 0.328000 22 55 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1428361 1428361 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:1428361G>A ENST00000381524.3 + 13 1378 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K CSF2RA_ENST00000355805.2_3'UTR|CSF2RA_ENST00000381500.1_3'UTR|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.E432K|CSF2RA_ENST00000432318.2_Missense_Mutation_p.E398K|CSF2RA_ENST00000361536.3_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.E265K|CSF2RA_ENST00000355432.3_Missense_Mutation_p.G338E|CSF2RA_ENST00000381529.3_Missense_Mutation_p.E398K P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 398 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) GACCGTGAAGGAAATTACCTG 0.512000 51 144 0 0 1 0 0 RRM2B 50484 broad.mit.edu 37 8 103238255 103238255 + Nonsense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:103238255A>T ENST00000251810.3 - 3 455 c.212T>A c.(211-213)tTa>tAa p.L71* RRM2B_ENST00000395912.2_Nonsense_Mutation_p.L19*|RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron NM_001172478.1|NM_015713.4 NP_001165949.1|NP_056528.2 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 71 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 9 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) ATCCTTTGATAAGTCGACCTG 0.343000 Modulation of nucleotide pools 19 33 0 0 1 0 0 ITGAE 3682 broad.mit.edu 37 17 3664359 3664359 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:3664359C>T ENST00000263087.4 - 6 644 c.546G>A c.(544-546)aaG>aaA p.K182K NM_002208.4 NP_002199.3 P38570 ITAE_HUMAN integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) 182 Glu-rich (acidic).|X-domain (extra domain). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) cctcctcctccttctccAGAG 0.562000 35 108 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534286 534286 + Missense_Mutation SNP C C T rs104894228 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:534286C>T ENST00000417302.1 - 2 224 c.37G>A c.(37-39)Ggt>Agt p.G13S HRAS_ENST00000451590.1_Missense_Mutation_p.G13S|HRAS_ENST00000397594.1_Missense_Mutation_p.G13S|HRAS_ENST00000397596.2_Missense_Mutation_p.G13S|HRAS_ENST00000311189.7_Missense_Mutation_p.G13S|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(70)|p.G13S(9)|p.G13C(8)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TTGCCCACACCGCCGGCGCCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 8 27 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212586 62212586 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:62212586G>A ENST00000519846.1 + 3 672 c.200G>A c.(199-201)gGa>gAa p.G67E CLVS1_ENST00000325897.4_Missense_Mutation_p.G67E|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 67 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CCTGACATTGGATTTTTACGT 0.458000 11 41 0 0 1 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39177414 39177414 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:39177414G>A ENST00000297668.6 - 6 901 c.828C>T c.(826-828)ctC>ctT p.L276L CNTNAP3_ENST00000377659.1_Silent_p.L276L|CNTNAP3_ENST00000358144.2_Silent_p.L188L|CNTNAP3_ENST00000377656.2_Silent_p.L276L|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000323947.7_Silent_p.L276L NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 276 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGAGCTCGATGAGGACGGAAT 0.517000 18 38 0 0 1 0 0 MSANTD3 91283 broad.mit.edu 37 9 103212888 103212888 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:103212888C>T ENST00000395067.2 + 3 739 c.468C>T c.(466-468)ttC>ttT p.F156F TMEFF1_ENST00000334943.6_Intron|MSANTD3_ENST00000374885.1_3'UTR|MSANTD3-TMEFF1_ENST00000502978.1_Intron|MSANTD3_ENST00000489377.1_3'UTR NM_001198805.1|NM_001198806.1|NM_080655.2 NP_001185734.1|NP_001185735.1|NP_542386.1 Myb/SANT-like DNA-binding domain containing 3 endometrium(2)|lung(2) 4 AGAAAGAGTTCATACATTTTC 0.398000 12 38 0 0 1 0 0 RBM44 375316 broad.mit.edu 37 2 238738022 238738022 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:238738022G>A ENST00000316997.4 + 13 2898 c.2766G>A c.(2764-2766)tcG>tcA p.S922S RBM44_ENST00000409864.1_Silent_p.S922S NM_001080504.2 NP_001073973.2 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 921 nucleotide binding|RNA binding breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) GAATTAGTTCGAATAATTTAG 0.388000 51 35 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10435073 10435073 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:10435073C>T ENST00000245503.5 - 22 2958 c.2574G>A c.(2572-2574)atG>atA p.M858I MYH2_ENST00000397183.2_Missense_Mutation_p.M858I|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 858 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ATTCTTCCTTCATGGTGGCCA 0.423000 16 58 0 0 1 0 0 OR2F1 26211 broad.mit.edu 37 7 143657478 143657478 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:143657478G>A ENST00000392899.1 + 1 452 c.415G>A c.(415-417)Ggg>Agg p.G139R NM_012369.2 NP_036501.2 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene) 139 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) CATGCATGGAGGGCTGTGTGC 0.557000 18 51 0 0 1 0 0 CILP2 148113 broad.mit.edu 37 19 19654188 19654188 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:19654188C>T ENST00000586018.1 + 7 1229 c.1127C>T c.(1126-1128)tCg>tTg p.S376L CILP2_ENST00000291495.4_Missense_Mutation_p.S370L Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 370 Ig-like C2-type. proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 32 GCCGTGCGCTCGGGCACTGCC 0.652000 18 35 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30131682 30131682 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:30131682C>T ENST00000376694.4 + 1 690 c.221C>T c.(220-222)cCc>cTc p.P74L TRIM15_ENST00000376688.1_Missense_Mutation_p.P74L NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 74 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GCCCCTGTGCCCCTGGGCCCG 0.632000 12 49 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9010664 9010664 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9010664G>A ENST00000397910.4 - 38 39200 c.38997C>T c.(38995-38997)tcC>tcT p.S12999S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13001 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 GGCTGGGGAGGGAGGATGGAG 0.488000 6 26 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42461933 42461933 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:42461933C>T ENST00000262407.5 - 8 851 c.820G>A c.(820-822)Gag>Aag p.E274K ITGA2B_ENST00000377068.3_5'UTR|ITGA2B_ENST00000353281.4_Missense_Mutation_p.E274K NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 274 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CCGTCGAACTCGCCCACGGCC 0.582000 14 47 0 0 1 0 0 ZNF267 10308 broad.mit.edu 37 16 31927110 31927110 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:31927110C>T ENST00000300870.10 + 4 1749 c.1540C>T c.(1540-1542)Cat>Tat p.H514Y RP11-170L3.8_ENST00000575471.1_RNA NM_001265588.1|NM_003414.5 NP_001252517.1|NP_003405.3 Q14586 ZN267_HUMAN zinc finger protein 267 514 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 TCGGAAAATTCATACTGGAGA 0.358000 10 38 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769628 31769628 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:31769628G>A ENST00000240587.4 - 2 1398 c.1071C>T c.(1069-1071)aaC>aaT p.N357N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 357 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TGATGTAAGGGTTGGAGTTCT 0.562000 52 164 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 33962623 33962623 + Missense_Mutation SNP T T G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:33962623T>G ENST00000389232.4 + 38 5796 c.5726T>G c.(5725-5727)gTt>gGt p.V1909G RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 1909 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity p.V1909G(1) NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TTGCTAGGGGTTCCTTTggaa 0.473000 7 12 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43038231 43038231 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:43038231G>A ENST00000267890.6 - 15 3605 c.3497C>T c.(3496-3498)tCc>tTc p.S1166F NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1166 Ser-rich. cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) AGATGGTGAGGAACTAGACGT 0.582000 20 72 0 0 1 0 0 OR4A15 81328 broad.mit.edu 37 11 55135756 55135756 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:55135756C>T ENST00000314706.3 + 1 397 c.397C>T c.(397-399)Cat>Tat p.H133Y NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 133 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 TTTTATGGATCATTTATTTGC 0.408000 44 109 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396955 38396955 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:38396955G>A ENST00000377698.3 + 2 1363 c.1210G>A c.(1210-1212)Ggt>Agt p.G404S NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 404 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) TACTGTCTTTGGTGGCGTGCA 0.547000 11 46 0 0 1 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635733 141635733 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:141635733C>T ENST00000546910.1 - 5 422 c.226G>A c.(226-228)Gaa>Aaa p.E76K CLEC5A_ENST00000438351.1_Missense_Mutation_p.E53K|CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.E53K NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 76 anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) TGATAAAATTCCCAGTCTTTG 0.398000 18 40 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5242214 5242214 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:5242214C>T ENST00000274181.7 + 17 2710 c.2572C>T c.(2572-2574)Cct>Tct p.P858S NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 858 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 ATACTCCATGCCTCGCTTGGG 0.547000 24 71 0 0 1 0 0 FGF13 2258 broad.mit.edu 37 X 137717682 137717682 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:137717682G>A ENST00000315930.6 - 4 1198 c.537C>T c.(535-537)atC>atT p.I179I FGF13_ENST00000441825.2_Silent_p.I160I|FGF13_ENST00000370603.3_Silent_p.I189I|FGF13_ENST00000305414.4_Silent_p.I126I|FGF13_ENST00000541469.1_Silent_p.I133I NM_004114.3 NP_004105.1 Q92913 FGF13_HUMAN fibroblast growth factor 13 179 cell-cell signaling|MAPKKK cascade|nervous system development cytoplasm|nucleus growth factor activity|protein kinase activator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1) 24 Acute lymphoblastic leukemia(192;0.000127) TGCCTTTCATGATCTCTCCTT 0.413000 27 18 0 0 1 0 0 AGAP10 728127 broad.mit.edu 37 10 47207813 47207813 + Splice_Site SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:47207813T>C ENST00000355232.3 - 5 3482 c.471_splice c.e5+1 p.H157_splice AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA ArfGAP with GTPase domain, ankyrin repeat and PH domain 10 p.H228R(20) endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1) 12 TTTACTTACATGGTTTGTACA 0.294000 4 21 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2928375 2928375 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:2928375G>A ENST00000355842.3 + 17 2824 c.1961G>A c.(1960-1962)gGa>gAa p.G654E ADD1_ENST00000503455.2_Missense_Mutation_p.G655E|ADD1_ENST00000398123.2_Missense_Mutation_p.G654E|ADD1_ENST00000398125.1_Missense_Mutation_p.G654E|ADD1_ENST00000398129.1_Intron|ADD1_ENST00000264758.7_Intron|ADD1_ENST00000513328.2_Missense_Mutation_p.G624E|ADD1_ENST00000446856.1_Intron P35611 ADDA_HUMAN adducin 1 (alpha) 0 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCAGGAGACGGATGCGCTAGA 0.522000 5 18 0 0 1 0 0 AMHR2 269 broad.mit.edu 37 12 53823959 53823959 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:53823959T>C ENST00000257863.4 + 10 1398 c.1318T>C c.(1318-1320)Tat>Cat p.Y440H AMHR2_ENST00000550311.1_Silent_p.P438P|AMHR2_ENST00000379791.3_Intron NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 440 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CCAACTGGCCTATGAGGCAGA 0.577000 66 163 0 0 1 0 0 BAI1 575 broad.mit.edu 37 8 143623549 143623549 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:143623549C>T ENST00000517894.1 + 28 4848 c.3954C>T c.(3952-3954)tcC>tcT p.S1318S BAI1_ENST00000323289.5_Silent_p.S1318S O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1318 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) CCAAGTCCTCCTTCGTCGGTG 0.657000 22 58 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140201409 140201409 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:140201409G>A ENST00000340951.4 - 22 2819 c.2624C>T c.(2623-2625)cCc>cTc p.P875L EXD3_ENST00000342129.4_Missense_Mutation_p.P513L NM_017820.3 NP_060290.3 Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 875 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 TCCTCAGAAGGGACTGCTGGC 0.652000 8 24 0 0 1 0 0 LMBR1L 55716 broad.mit.edu 37 12 49494192 49494192 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:49494192G>A ENST00000267102.8 - 15 1561 c.1219C>T c.(1219-1221)Cct>Tct p.P407S LMBR1L_ENST00000395141.4_Missense_Mutation_p.P402S|LMBR1L_ENST00000547382.1_Missense_Mutation_p.P387S NM_018113.2 NP_060583.2 Q6UX01 LMBRL_HUMAN limb development membrane protein 1-like 407 endocytosis integral to membrane|plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GAGAAGACAGGAAGTGCTGAG 0.463000 20 87 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327809 52327809 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:52327809G>A ENST00000339223.4 + 2 987 c.808G>A c.(808-810)Gag>Aag p.E270K FPR3_ENST00000595991.1_Missense_Mutation_p.E270K NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 270 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 CTGGCTCAAAGAGATGTTGTT 0.438000 27 42 0 0 1 0 0 MEP1A 4224 broad.mit.edu 37 6 46801057 46801057 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:46801057G>A ENST00000230588.4 + 11 1400 c.1391G>A c.(1390-1392)gGa>gAa p.G464E NM_005588.2 NP_005579.2 Q16819 MEP1A_HUMAN meprin A, alpha (PABA peptide hydrolase) 464 MATH. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Lung(136;0.192) AATTCGGAGGGATATGGTTTT 0.493000 20 93 0 0 1 0 0 GLOD5 392465 broad.mit.edu 37 X 48624362 48624362 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:48624362G>A ENST00000303227.6 + 2 227 c.186G>A c.(184-186)gaG>gaA p.E62E GLOD5_ENST00000470676.1_3'UTR NM_001080489.2 NP_001073958.2 glyoxalase domain containing 5 endometrium(1)|lung(2) 3 TGGGCATGGAGGTCATGACTT 0.418000 4 0 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40283720 40283720 + Silent SNP C C T rs143952812 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:40283720C>T ENST00000325157.6 - 2 283 c.33G>A c.(31-33)gtG>gtA p.V11V NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 11 ENTH. p.V11V(1) breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) AGTAATTTTTCACAAAGTTTT 0.398000 9 39 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32811678 32811678 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:32811678C>T ENST00000380250.3 + 44 6469 c.5973C>T c.(5971-5973)atC>atT p.I1991I NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1991 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TTGGTGTCATCGACCGATCCT 0.542000 10 20 0 0 1 0 0 IL12B 3593 broad.mit.edu 37 5 158745789 158745789 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:158745789G>A ENST00000231228.2 - 6 1265 c.810C>T c.(808-810)tcC>tcT p.S270S NM_002187.2 NP_002178.2 P29460 IL12B_HUMAN interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 270 Fibronectin type-III. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGAATGTCAGGGAGAAGTAGG 0.507000 18 47 0 0 1 0 0 ALLC 55821 broad.mit.edu 37 2 3726094 3726094 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:3726094G>A ENST00000252505.3 + 4 283 c.121G>A c.(121-123)Gag>Aag p.E41K NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 60 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TGAATATACGGAGTTTGGGAA 0.468000 HNSCC(21;0.051) 21 35 0 0 1 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281769 71281769 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:71281769G>A ENST00000335793.3 - 2 1265 c.871C>T c.(871-873)Ccc>Tcc p.P291S CDC42EP4_ENST00000581014.1_Intron|CDC42EP4_ENST00000439510.2_Missense_Mutation_p.P221S Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 291 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) CCGGGGCTGGGGGCCGCTGCT 0.716000 23 15 0 0 1 0 0 CBLN4 140689 broad.mit.edu 37 20 54575842 54575842 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:54575842C>T ENST00000064571.2 - 2 1653 c.353G>A c.(352-354)gGa>gAa p.G118E NM_080617.4 NP_542184.1 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 118 C1q. cell junction|extracellular region|synapse endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1) 17 Colorectal(105;0.202) ACTGTAAATTCCTTTTCTTGG 0.348000 22 55 0 0 1 0 0 OR4E2 26686 broad.mit.edu 37 14 22133627 22133627 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:22133627G>A ENST00000408935.1 + 1 331 c.331G>A c.(331-333)Gag>Aag p.E111K NM_001001912.1 NP_001001912.1 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, member 2 111 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 15 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) TGCCTGTGCCGAGATCTTTCT 0.453000 55 134 0 0 1 0 0 METTL6 131965 broad.mit.edu 37 3 15457302 15457302 + Missense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:15457302G>T ENST00000443029.1 - 4 748 c.508C>A c.(508-510)Ctt>Att p.L170I METTL6_ENST00000450816.2_Missense_Mutation_p.L125I|METTL6_ENST00000383789.5_Missense_Mutation_p.L170I|METTL6_ENST00000383790.3_Missense_Mutation_p.L170I Q8TCB7 METL6_HUMAN methyltransferase like 6 170 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1) 15 TGTAAGACAAGGTGCATCTTA 0.428000 24 59 2.79863e-10 2.83966e-10 1 1 0 NAALAD2 10003 broad.mit.edu 37 11 89911178 89911178 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:89911178C>T ENST00000534061.1 + 16 1981 c.1751C>T c.(1750-1752)cCt>cTt p.P584L NAALAD2_ENST00000321955.4_Missense_Mutation_p.P551L|NAALAD2_ENST00000375944.3_Intron NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 584 proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) AAAATCATTCCTTTTAATATT 0.338000 20 46 0 0 1 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555336 44555336 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:44555336G>A ENST00000330682.2 - 1 1113 c.878C>T c.(877-879)tCc>tTc p.S293F 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) 293 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 GTTTGCCTGGGAGGTCATGGC 0.612000 16 1029 0 0 1 0 0 CACHD1 57685 broad.mit.edu 37 1 65119559 65119559 + Silent SNP C C T rs143213867 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:65119559C>T ENST00000371073.2 + 11 1659 c.1659C>T c.(1657-1659)atC>atT p.I553I CACHD1_ENST00000290039.5_Silent_p.I502I|CACHD1_ENST00000495994.1_3'UTR Q5VU97 CAHD1_HUMAN cache domain containing 1 553 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GGCAAAATATCCTAAGGTAAG 0.373000 13 56 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 599121 599121 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:599121G>A ENST00000230449.4 - 8 982 c.847C>T c.(847-849)Ctt>Ttt p.L283F EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 283 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) AGGTTGAAAAGAAACTTAAAT 0.318000 29 185 0 0 1 0 0 ABCB1 5243 broad.mit.edu 37 7 87175328 87175328 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:87175328G>A ENST00000265724.3 - 16 2155 c.1738C>T c.(1738-1740)Cgg>Tgg p.R580W ABCB1_ENST00000543898.1_Missense_Mutation_p.R516W NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 580 ABC transporter 1. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) ATGGTGGTCCGACCTTTTCTG 0.383000 19 43 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1042114 1042114 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:1042114C>T ENST00000263094.6 + 5 585 c.354C>T c.(352-354)gcC>gcT p.A118A ABCA7_ENST00000433129.1_Silent_p.A118A NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 118 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCCAGTGCCCACAGGACGC 0.721000 4 16 0 0 1 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953520 8953520 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:8953520G>A ENST00000595891.1 + 3 397 c.166G>A c.(166-168)Gag>Aag p.E56K MBD3L1_ENST00000305625.2_Missense_Mutation_p.E56K Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 1 56 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 CCATCAATGGGAGGAGAGCTT 0.512000 22 51 0 0 1 0 0 ZNF8 7554 broad.mit.edu 37 19 58806109 58806109 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:58806109C>T ENST00000196548.5 + 4 1066 c.935C>T c.(934-936)cCc>cTc p.P312L AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 312 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) GGAGACAAGCCCTACAAGTGT 0.532000 13 39 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813815 106813815 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:106813815C>T ENST00000407775.2 + 8 1755 c.1505C>T c.(1504-1506)tCt>tTt p.S502F RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S370F|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S233F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.S370F|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 502 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TCTCAGTTTTCTTTCCCCCAA 0.488000 33 133 0 0 1 0 0 SFTPA1 653509 broad.mit.edu 37 10 81371713 81371713 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:81371713G>A ENST00000398636.3 + 3 270 c.132G>A c.(130-132)agG>agA p.R44R SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000428376.2_Silent_p.R44R|SFTPA1_ENST00000372308.3_Silent_p.R44R|SFTPA1_ENST00000419470.2_Silent_p.R59R NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 44 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) TGCCAGGCAGGGACGGGAGAG 0.617000 17 49 0 0 1 0 0 ZNF578 147660 broad.mit.edu 37 19 53013890 53013890 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:53013890C>T ENST00000421239.2 + 6 500 c.256C>T c.(256-258)Cac>Tac p.H86Y NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 0 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) AGAAGTGATCCACACAGGGAT 0.368000 25 79 0 0 1 0 0 IPCEF1 26034 broad.mit.edu 37 6 154520815 154520815 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:154520815C>T ENST00000265198.4 - 10 1049 c.894G>A c.(892-894)aaG>aaA p.K298K IPCEF1_ENST00000367220.4_Silent_p.K299K|OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000519344.1_Silent_p.K270K|IPCEF1_ENST00000422970.2_Silent_p.K299K NM_001130700.1|NM_015553.2 NP_001124172.1|NP_056368.1 interaction protein for cytohesin exchange factors 1 breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 12 TGTCCATGATCTTTGATCCAG 0.323000 10 50 0 0 1 0 0 OR2L13 284521 broad.mit.edu 37 1 248263565 248263565 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:248263565C>T ENST00000366478.2 + 3 1225 c.888C>T c.(886-888)gtC>gtT p.V296V OR2L13_ENST00000358120.2_Silent_p.V296V NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 296 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0132) ATAAGGAAGTCCTGGGGGCTA 0.473000 14 45 0 0 1 0 0 PRR14 78994 broad.mit.edu 37 16 30666100 30666100 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:30666100C>T ENST00000542965.2 + 7 1265 c.809C>T c.(808-810)aCc>aTc p.T270I PRR14_ENST00000300835.4_Missense_Mutation_p.T270I Q9BWN1 PRR14_HUMAN proline rich 14 270 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) CCCAACAAAACCCCACAGCCC 0.642000 6 16 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80633149 80633149 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:80633149C>T ENST00000458043.2 + 10 961 c.955C>T c.(955-957)Cct>Tct p.P319S OTOGL_ENST00000547103.1_Missense_Mutation_p.P319S NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GTTGCAGTTTCCTTTTCTGAG 0.353000 31 73 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93598148 93598148 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:93598148G>A ENST00000394236.3 - 13 1819 c.1503C>T c.(1501-1503)tcC>tcT p.S501S PROS1_ENST00000407433.1_Silent_p.S370S NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 501 Laminin G-like 2. S -> A (in PROS1D).|S -> P (variant Heerlen; could be associated with PROS1D). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) CCTCAGCACTGGATACATTAT 0.398000 26 91 0 0 1 0 0 IFT80 57560 broad.mit.edu 37 3 159998559 159998559 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:159998559G>A ENST00000326448.7 - 15 1992 c.1560C>T c.(1558-1560)atC>atT p.I520I IFT80_ENST00000483465.1_Silent_p.I383I|RP11-432B6.3_ENST00000483754.1_Silent_p.I691I|IFT80_ENST00000496589.1_Silent_p.I383I NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 520 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTCCACAAAGGATATTGCATG 0.318000 9 26 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107923973 107923973 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:107923973G>A ENST00000328300.6 + 45 4251 c.4007G>A c.(4006-4008)gGa>gAa p.G1336E COL4A5_ENST00000361603.2_Missense_Mutation_p.G1330E NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1330 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 GGTGTTCCAGGATTCCCAGGT 0.408000 Alport syndrome with Diffuse Leiomyomatosis 20 14 0 0 1 0 0 ZNF620 253639 broad.mit.edu 37 3 40557619 40557619 + Missense_Mutation SNP C C G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:40557619C>G ENST00000314529.6 + 5 683 c.534C>G c.(532-534)agC>agG p.S178R ZNF620_ENST00000418905.1_Missense_Mutation_p.S64R NM_175888.3 NP_787084.1 Q6ZNG0 ZN620_HUMAN zinc finger protein 620 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) AAAATATTAGCGTCAGCACAC 0.408000 3 22 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114389010 114389010 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:114389010G>A ENST00000343508.3 - 2 185 c.15C>T c.(13-15)ttC>ttT p.F5F CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000297405.5_Intron|CSMD3_ENST00000352409.3_Intron NM_198124.1 NP_937757.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 44 integral to membrane|plasma membrane p.F5L(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCCAGCAAAGGAACCAACTCC 0.542000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 37 0 0 1 0 0 NPC1 4864 broad.mit.edu 37 18 21119346 21119346 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:21119346T>A ENST00000269228.5 - 19 3438 c.2884A>T c.(2884-2886)Atc>Ttc p.I962F NPC1_ENST00000412552.2_Missense_Mutation_p.I644F NM_000271.4 NP_000262.2 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 962 NITDQF -> S (in NPC1). 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) TGGTCAGTGATATTGTCCACT 0.433000 7 22 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73046579 73046579 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:73046579C>T ENST00000604411.1 + 0 34540 XIST_ENST00000429829.1_lincRNA NR_003255.2 ATACCTTTTTCGCTTGGGTCC 0.517000 41 25 0 0 1 0 0 SPAM1 6677 broad.mit.edu 37 7 123595133 123595133 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:123595133G>A ENST00000340011.5 + 4 1394 c.1037G>A c.(1036-1038)cGa>cAa p.R346Q SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000439500.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 346 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity p.R346Q(2) breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) AGTATAATGCGAAGTATGGTA 0.338000 23 53 0 0 1 0 0 GATSL3 652968 broad.mit.edu 37 22 30682915 30682915 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:30682915G>A ENST00000407689.3 - 5 657 c.528C>T c.(526-528)ccC>ccT p.P176P GATSL3_ENST00000459785.1_Intron|RP1-130H16.18_ENST00000447976.1_3'UTR|GATSL3_ENST00000404953.3_Silent_p.P176P NM_001037666.2 NP_001032755.1 GATS protein-like 3 breast(1)|endometrium(1)|lung(1) 3 GGCTCTGGATGGGATGCACCG 0.637000 OREG0026457 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 74 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36069714 36069714 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:36069714G>A ENST00000303965.4 - 33 5419 c.4930C>T c.(4930-4932)Cca>Tca p.P1644S NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 1644 regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TGCCCAAGTGGGGCTTCAGGC 0.498000 35 97 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203192781 203192781 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:203192781C>T ENST00000367229.1 - 5 356 c.322G>A c.(322-324)Gat>Aat p.D108N CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.D99N|CHIT1_ENST00000255427.3_Missense_Mutation_p.D89N NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 108 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 GCTACCATATCTGTGAACCTG 0.537000 17 69 0 0 1 0 0 KIAA0232 9778 broad.mit.edu 37 4 6865515 6865515 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:6865515C>T ENST00000307659.5 + 7 3861 c.3406C>T c.(3406-3408)Ccc>Tcc p.P1136S KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1136S NM_014743.2 NP_055558.2 Q92628 K0232_HUMAN KIAA0232 1136 ATP binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 41 AGCAAATATTCCCATTCCTTC 0.438000 12 37 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955510 18955510 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:18955510G>A ENST00000302797.3 - 1 1046 c.822C>T c.(820-822)ttC>ttT p.F274F NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 274 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AGGAGCCCACGAAGAAGTAAA 0.512000 20 44 0 0 1 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156632084 156632084 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:156632084C>T ENST00000296518.7 + 6 976 c.767C>T c.(766-768)tCc>tTc p.S256F GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S256F|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S256F|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S256F|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S256F|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S256F Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 256 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble GTP binding|guanylate cyclase activity|heme binding|receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.17) TTGTTGTACTCCGTTCACATG 0.483000 23 68 0 0 1 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045742 142045742 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142045742C>T ENST00000390392.3 + 0 381 GCCCCAACAGCTCTCACTTAT 0.507000 34 167 0 0 1 0 0 CTDP1 9150 broad.mit.edu 37 18 77488959 77488959 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:77488959C>T ENST00000299543.7 + 11 2617 c.2470C>T c.(2470-2472)Cag>Tag p.Q824* CTDP1_ENST00000075430.7_Intron NM_001202504.1|NM_004715.4 NP_001189433.1|NP_004706.3 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 824 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) GCCTGACGCTCAGGACGGAGA 0.527000 98 185 0 0 1 0 0 TMEM201 199953 broad.mit.edu 37 1 9661428 9661428 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:9661428C>T ENST00000340305.5 + 5 881 c.872C>T c.(871-873)gCc>gTc p.A291V TMEM201_ENST00000377376.4_Missense_Mutation_p.A291V|TMEM201_ENST00000340381.6_Missense_Mutation_p.A291V NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 291 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) GAGGCCTGGGCCTTTGGGCAG 0.682000 27 62 0 0 1 0 0 TDP2 51567 broad.mit.edu 37 6 24651099 24651099 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:24651099G>A ENST00000341060.3 - 6 1227 c.832C>T c.(832-834)Ctt>Ttt p.L278F TDP2_ENST00000545995.1_Missense_Mutation_p.L366F|TDP2_ENST00000378198.4_Missense_Mutation_p.L336F O95551 TYDP2_HUMAN tyrosyl-DNA phosphodiesterase 2 336 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 AATCCAAGAAGGTCCAAACTT 0.388000 Direct reversal of damage 13 37 0 0 1 0 0 ARL6IP5 10550 broad.mit.edu 37 3 69151138 69151138 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:69151138A>T ENST00000273258.3 + 2 429 c.325A>T c.(325-327)Agc>Tgc p.S109C ARL6IP5_ENST00000478935.1_Intron NM_006407.3 NP_006398.1 O75915 PRAF3_HUMAN ADP-ribosylation-like factor 6 interacting protein 5 109 L-glutamate transport endoplasmic reticulum membrane|integral to membrane biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238) CATGTTGGCGAGCTATTTCCT 0.468000 18 55 0 0 1 0 0 CDC42EP2 10435 broad.mit.edu 37 11 65088624 65088624 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:65088624C>T ENST00000544348.1 + 2 861 c.255C>T c.(253-255)ttC>ttT p.F85F CDC42EP2_ENST00000279249.2_Silent_p.F85F|CDC42EP2_ENST00000533419.1_Silent_p.F85F O14613 BORG1_HUMAN CDC42 effector protein (Rho GTPase binding) 2 85 actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape cytoplasm|cytoskeleton|endomembrane system|plasma membrane GTP-Rho binding|Rho GTPase activator activity lung(1) 1 CCTTCCAGTTCACCCGCACCG 0.657000 15 16 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142640920 142640920 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142640920G>A ENST00000355265.2 - 14 2016 c.1542C>T c.(1540-1542)tcC>tcT p.S514S NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 514 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) TAGCTCGGAGGGACCGGACAC 0.562000 8 33 0 0 1 0 0 PAM 5066 broad.mit.edu 37 5 102345530 102345530 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:102345530C>T ENST00000438793.3 + 20 2761 c.2291C>T c.(2290-2292)tCc>tTc p.S764F PAM_ENST00000346918.2_Missense_Mutation_p.S764F|PAM_ENST00000274392.9_Missense_Mutation_p.S667F|PAM_ENST00000379787.4_Missense_Mutation_p.S144F|PAM_ENST00000455264.2_Missense_Mutation_p.S764F|PAM_ENST00000348126.2_Missense_Mutation_p.S657F|PAM_ENST00000304400.7_Missense_Mutation_p.S764F NM_000919.3|NM_001177306.1|NM_138766.2 NP_000910.2|NP_001170777.1|NP_620121.1 P19021 AMD_HUMAN peptidylglycine alpha-amidating monooxygenase 764 Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity). peptide metabolic process|protein modification process extracellular region|integral to membrane|stored secretory granule L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 25 all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284) Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127) Vitamin C(DB00126) ATGAACTTTTCCAATGGGGAA 0.393000 22 47 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945674 16945674 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:16945674G>A ENST00000412962.1 - 0 1845 TTGCTGCCTAGGAAATGTGCC 0.617000 11 223 0 0 1 0 0 CYP2C18 1562 broad.mit.edu 37 10 96447961 96447961 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:96447961G>A ENST00000285979.6 + 3 610 c.411G>A c.(409-411)ggG>ggA p.G137G CYP2C18_ENST00000339022.5_Silent_p.G137G|CYP2C19_ENST00000464755.1_3'UTR 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) TTGGGATGGGGAAGAGGAGCA 0.473000 17 48 0 0 1 0 0 EDC3 80153 broad.mit.edu 37 15 74963841 74963841 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:74963841C>T ENST00000315127.4 - 3 620 c.439G>A c.(439-441)Gaa>Aaa p.E147K EDC3_ENST00000568176.1_Missense_Mutation_p.E147K|EDC3_ENST00000426797.3_Missense_Mutation_p.E147K NM_001142444.1|NM_025083.3 NP_001135916.1|NP_079359.2 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 147 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 CTCAAGGATTCCATGTGCCTG 0.488000 32 72 0 0 1 0 0 CFDP1 10428 broad.mit.edu 37 16 75446505 75446505 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:75446505C>T ENST00000283882.3 - 3 462 c.330G>A c.(328-330)gaG>gaA p.E110E CFDP1_ENST00000564286.1_5'UTR NM_006324.2 NP_006315.1 Q9UEE9 CFDP1_HUMAN craniofacial development protein 1 110 Glu-rich. multicellular organismal development endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 AGAGTTCGTCCTCCTTCTTTT 0.473000 76 70 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11332895 11332895 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:11332895G>A ENST00000294618.7 - 27 3281 c.3270C>T c.(3268-3270)gaC>gaT p.D1090D DOCK6_ENST00000319867.7_Silent_p.D429D NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1090 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 TCACCTTGGGGTCCGGGGCTT 0.612000 3 13 0 0 1 0 0 NANOGP1 404635 broad.mit.edu 37 12 8051529 8051529 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:8051529C>T ENST00000607111.1 + 0 749 kidney(1)|lung(4)|prostate(1) 6 TACTCAGTTTCAGTCTGGACA 0.418000 32 64 0 0 1 0 0 GRID2 2895 broad.mit.edu 37 4 94031981 94031981 + Silent SNP C C T rs139988203 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:94031981C>T ENST00000282020.4 + 4 870 c.612C>T c.(610-612)atC>atT p.I204I GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.I109I NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 204 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity p.I204I(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AAAACAACATCAATAAAATGA 0.418000 32 69 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38770165 38770165 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:38770165G>A ENST00000449082.2 - 15 2507 c.2508C>T c.(2506-2508)ttC>ttT p.F836F NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 836 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGAAAGAGTGGAAGAAGTCGT 0.507000 14 40 0 0 1 0 0 VSTM2A 222008 broad.mit.edu 37 7 54617644 54617644 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:54617644G>A ENST00000302287.3 + 4 821 c.415G>A c.(415-417)Gaa>Aaa p.E139K VSTM2A_ENST00000402613.3_Missense_Mutation_p.E139K|VSTM2A_ENST00000404951.1_Missense_Mutation_p.E139K|VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000407838.3_Missense_Mutation_p.E139K|VSTM2A_ENST00000402026.2_Missense_Mutation_p.E138K Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A 139 Ig-like V-type. extracellular region endometrium(1)|large_intestine(2)|lung(12)|prostate(1) 16 STAD - Stomach adenocarcinoma(5;0.0525) GGAGCTTCAGGAACACAAGGC 0.522000 3 12 0 0 1 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 73944162 73944162 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:73944162C>T ENST00000476977.1 + 9 2880 c.1189C>T c.(1189-1191)Ccc>Tcc p.P397S GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P397S|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P429S|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P397S Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 397 nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GGACAAGATCCCCTTCAAGCG 0.617000 9 34 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814475 106814475 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:106814475C>T ENST00000407775.2 + 8 2415 c.2165C>T c.(2164-2166)gCt>gTt p.A722V RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.A590V|ZFPM2_ENST00000378472.4_Missense_Mutation_p.A453V|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.A590V|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 722 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AAGAGGTCTGCTTCCAACAAA 0.517000 6 19 0 0 1 0 0 KCNH8 131096 broad.mit.edu 37 3 19559495 19559495 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:19559495G>A ENST00000328405.2 + 15 2814 c.2548G>A c.(2548-2550)Gag>Aag p.E850K NM_144633.2 NP_653234.2 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 8 850 integral to membrane two-component sensor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 77 TTCAGATCCAGAGATTGGAGC 0.408000 14 58 0 0 1 0 0 TTLL6 284076 broad.mit.edu 37 17 46847345 46847345 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:46847345C>T ENST00000393382.3 - 14 2296 c.2155G>A c.(2155-2157)Gac>Aac p.D719N TTLL6_ENST00000433608.2_Missense_Mutation_p.D412N NM_001130918.1 NP_001124390.1 Q8N841 TTLL6_HUMAN tubulin tyrosine ligase-like family, member 6 671 cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 ACCACCCTGTCCGTCTCTGGG 0.507000 18 69 0 0 1 0 0 TGM6 343641 broad.mit.edu 37 20 2381031 2381031 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:2381031G>A ENST00000202625.2 + 7 991 c.930G>A c.(928-930)gtG>gtA p.V310V TGM6_ENST00000477505.1_3'UTR|TGM6_ENST00000381423.1_Silent_p.V310V NM_198994.2 NP_945345.2 O95932 TGM3L_HUMAN transglutaminase 6 310 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) ACCTGAGTGTGGACAAATACG 0.617000 31 79 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85981717 85981717 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:85981717C>T ENST00000372113.4 - 3 1617 c.1612G>A c.(1612-1614)Gag>Aag p.E538K LRIT2_ENST00000538192.1_Missense_Mutation_p.E548K NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 538 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 TTGTCCCCCTCAGTGTCTATG 0.572000 40 84 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168150008 168150008 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:168150008C>T ENST00000519560.1 - 22 2760 c.2339_splice c.e22-1 p.D781_splice SLIT3_ENST00000404867.3_Splice_Site_p.D781_splice|SLIT3_ENST00000332966.8_Splice_Site_p.D781_splice NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 781 apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGCTCAGGTCACTAGGAAAA 0.463000 25 56 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72351348 72351348 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:72351348T>C ENST00000389916.4 + 20 3032 c.2894T>C c.(2893-2895)gTt>gCt p.V965A NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 965 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 CCCCTGGCTGTTCCCCCCAAC 0.657000 9 99 0 0 1 0 0 MSI2 124540 broad.mit.edu 37 17 55478817 55478817 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:55478817C>T ENST00000284073.2 + 6 599 c.390C>T c.(388-390)ttC>ttT p.F130F MSI2_ENST00000322684.3_Silent_p.F126F|MSI2_ENST00000442934.2_Silent_p.F69F|MSI2_ENST00000416426.2_Silent_p.F108F|MSI2_ENST00000579180.1_Silent_p.F26F NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 130 RRM 2. cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) AGCAATATTTCGAGCAGTTTG 0.488000 T HOXA9 CML 15 85 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236589 42236589 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:42236589C>T ENST00000541110.1 - 5 1308 c.740G>A c.(739-741)gGa>gAa p.G247E TRERF1_ENST00000372922.4_Missense_Mutation_p.G247E|TRERF1_ENST00000354325.2_Missense_Mutation_p.G247E|TRERF1_ENST00000372917.4_Missense_Mutation_p.G247E|TRERF1_ENST00000340840.2_Missense_Mutation_p.G247E Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 247 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGCTGTCCTCCCTGCACTGG 0.602000 11 75 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149520932 149520932 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:149520932G>A ENST00000378016.2 + 0 13509 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TGGGCTGTAAGGAGTGGTGAG 0.667000 5 6 0 0 1 0 0 TTC3 7267 broad.mit.edu 37 21 38558073 38558073 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:38558073C>T ENST00000399017.2 + 37 7571 c.4824C>T c.(4822-4824)atC>atT p.I1608I TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Silent_p.I1608I|TTC3_ENST00000354749.2_Silent_p.I1608I NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 1608 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) CCCTTGAAATCAGGCAAATTA 0.279000 4 10 0 0 1 0 0 NT5E 4907 broad.mit.edu 37 6 86181124 86181124 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:86181124C>T ENST00000257770.3 + 3 781 c.732C>T c.(730-732)tcC>tcT p.S244S NT5E_ENST00000369646.3_Silent_p.S244S|NT5E_ENST00000369651.3_Silent_p.S244S NM_002526.3 NP_002517.1 P21589 5NTD_HUMAN 5'-nucleotidase, ecto (CD73) 244 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) GAGGACACTCCAACACATTTC 0.428000 15 24 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20248751 20248751 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:20248751G>A ENST00000315957.4 + 1 351 c.270G>A c.(268-270)aaG>aaA p.K90K NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGAGAGGAAGATAATTTCCT 0.448000 61 485 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70926328 70926328 + Missense_Mutation SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:70926328A>C ENST00000393567.2 - 56 9503 c.9353T>G c.(9352-9354)gTc>gGc p.V3118G NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3118 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GAAAACTTGGACATTTGTGGG 0.468000 17 90 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77844167 77844167 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:77844167C>T ENST00000407578.2 - 7 1486 c.1220G>A c.(1219-1221)aGa>aAa p.R407K MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R369K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R369K NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 369 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) TTTTCTGTTTCTAATACGGGA 0.284000 38 70 0 0 1 0 0 XKR9 389668 broad.mit.edu 37 8 71619283 71619283 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:71619283G>A ENST00000408926.3 + 4 922 c.388G>A c.(388-390)Gat>Aat p.D130N XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Missense_Mutation_p.D130N NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 130 integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TAGAGTGACTGATTTGAGCAT 0.388000 11 44 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126915906 126915906 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:126915906C>T ENST00000398112.1 + 2 618 c.378C>T c.(376-378)aaC>aaT p.N126N NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) TGGCCCCCAACCTATTTCCTT 0.607000 49 127 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3227926 3227926 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:3227926G>A ENST00000217939.6 - 7 8472 c.8318C>T c.(8317-8319)tCg>tTg p.S2773L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2773 Ig-like C2-type 12. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTTCAGATGCGACTTATCCGG 0.562000 16 25 0 0 1 0 0 HTRA1 5654 broad.mit.edu 37 10 124266289 124266289 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:124266289C>T ENST00000368984.3 + 4 988 c.860C>T c.(859-861)tCc>tTc p.S287F NM_002775.4 NP_002766.1 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 287 Serine protease. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity endometrium(1)|kidney(1)|large_intestine(8)|lung(7) 17 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) AGCCCGTTTTCCCTTCAAAAC 0.617000 25 42 0 0 1 0 0 SSUH2 51066 broad.mit.edu 37 3 8675472 8675472 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:8675472C>T ENST00000317371.4 - 11 1378 c.153G>A c.(151-153)gcG>gcA p.A51A SSUH2_ENST00000544814.1_Silent_p.A73A|SSUH2_ENST00000415132.1_Silent_p.A51A|SSUH2_ENST00000341795.3_Silent_p.A51A ssu-2 homolog (C. elegans) CCTCCGTCATCGCAGGGACTC 0.647000 18 33 0 0 1 0 0 MEN1 4221 broad.mit.edu 37 11 64573726 64573726 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:64573726C>T ENST00000337652.1 - 7 1545 c.1042G>A c.(1042-1044)Gac>Aac p.D348N MEN1_ENST00000377321.1_Missense_Mutation_p.D308N|MEN1_ENST00000377313.1_Missense_Mutation_p.D348N|MEN1_ENST00000377316.2_Missense_Mutation_p.D343N|MEN1_ENST00000377326.3_Missense_Mutation_p.D343N|MEN1_ENST00000315422.4_Missense_Mutation_p.D343N|MEN1_ENST00000312049.6_Missense_Mutation_p.D343N|MEN1_ENST00000443283.1_Missense_Mutation_p.D348N|MEN1_ENST00000394374.2_Missense_Mutation_p.D348N|MEN1_ENST00000394376.1_Missense_Mutation_p.D348N|MEN1_ENST00000478548.1_5'UTR NM_130803.2 NP_570715.1 O00255 MEN1_HUMAN multiple endocrine neoplasia I 348 Interaction with FANCD2. DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2) 337 GTGGCCGTGTCCGCCCAGGCC 0.592000 """D, Mis, N, F, S""" """parathyroid tumors, Pancreatic neuroendocrine tumors""" """parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid""" Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated OREG0004014 type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 22 46 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23815730 23815730 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:23815730C>T ENST00000264867.2 - 8 1495 c.1376G>A c.(1375-1377)cGa>cAa p.R459Q PPARGC1A_ENST00000509702.1_5'UTR NM_013261.3 NP_037393.1 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 alpha 459 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) CAGCTCGGCTCGGATTTCCTG 0.502000 23 41 0 0 1 0 0 KCTD16 57528 broad.mit.edu 37 5 143853436 143853436 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:143853436G>A ENST00000507359.2 + 3 2137 c.1046G>A c.(1045-1047)gGc>gAc p.G349D KCTD16_ENST00000512467.1_Missense_Mutation_p.G349D NM_020768.3 NP_065819.1 Q68DU8 KCD16_HUMAN potassium channel tetramerization domain containing 16 349 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 21 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) ATCAAGAAGGGCCCTGTCCAG 0.572000 22 53 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303845 151303845 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:151303845G>A ENST00000370323.4 - 4 564 c.248C>T c.(247-249)cCt>cTt p.P83L MAGEA10_ENST00000244096.3_Missense_Mutation_p.P83L|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 83 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) ACTCTGGGGAGGATTTGGTGT 0.542000 75 58 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31302386 31302386 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:31302386G>A ENST00000265071.2 + 6 1245 c.980G>A c.(979-981)gGg>gAg p.G327E CDH6_ENST00000514738.1_Missense_Mutation_p.G272E NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 327 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ACCCAGGAAGGGATTATAACT 0.443000 11 25 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16860018 16860018 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:16860018C>T ENST00000524140.2 + 6 983 c.565C>T c.(565-567)Ctt>Ttt p.L189F NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000379808.3_Missense_Mutation_p.L189F|NWD1_ENST00000552788.1_Missense_Mutation_p.L189F|NWD1_ENST00000339803.6_Missense_Mutation_p.L54F|NWD1_ENST00000549814.1_Missense_Mutation_p.L189F NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 189 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 CACCGTCTTCCTTAGAGAGAT 0.582000 23 46 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10961740 10961740 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:10961740G>A ENST00000240691.2 - 1 1027 c.935C>T c.(934-936)cCa>cTa p.P312L NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 312 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GGGTCTCTATGGAACAAAAGG 0.353000 14 28 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32184818 32184818 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:32184818C>T ENST00000375023.3 - 11 1903 c.1765G>A c.(1765-1767)Gag>Aag p.E589K NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 589 EGF-like 15; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 TCATCCACCTCTGTTTGACAG 0.597000 98 325 0 0 1 0 0 EBF2 64641 broad.mit.edu 37 8 25899713 25899713 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:25899713C>T ENST00000520164.1 - 2 723 c.186G>A c.(184-186)agG>agA p.R62R NM_022659.3 NP_073150.2 Q9HAK2 COE2_HUMAN early B-cell factor 2 62 Interaction with DNA (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) AGTTGGATTTCCTCAAGTTGG 0.582000 10 42 0 0 1 0 0 MEIOB 254528 broad.mit.edu 37 16 1889285 1889285 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:1889285T>C ENST00000412554.2 - 12 1383 c.1189A>G c.(1189-1191)Agt>Ggt p.S397G FAHD1_ENST00000382668.4_Missense_Mutation_p.L220P|FAHD1_ENST00000382666.4_3'UTR|MEIOB_ENST00000452149.2_Missense_Mutation_p.S397G|MEIOB_ENST00000325962.3_Missense_Mutation_p.S397G|MEIOB_ENST00000470044.1_Missense_Mutation_p.S190G|MEIOB_ENST00000397344.3_Missense_Mutation_p.S397G NM_001163560.2 NP_001157032.1 meiosis specific with OB domains TCAGCAACACTTCCTGTGAGA 0.393000 13 24 0 0 1 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45567440 45567440 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:45567440G>A ENST00000588982.1 - 3 540 c.39C>T c.(37-39)ttC>ttT p.F13F ZBTB7C_ENST00000332053.2_Silent_p.F13F|ZBTB7C_ENST00000590800.1_Silent_p.F13F|ZBTB7C_ENST00000535628.2_Silent_p.F13F|ZBTB7C_ENST00000586438.1_Silent_p.F13F A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 13 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 TGTGGTTGGGGAAGGGAATGC 0.572000 12 30 0 0 1 0 0 OR1E1 8387 broad.mit.edu 37 17 3301285 3301285 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:3301285G>A ENST00000322608.2 - 1 419 c.420C>T c.(418-420)ctC>ctT p.L140L NM_003553.2 NP_003544.2 P30953 OR1E1_HUMAN olfactory receptor, family 1, subfamily E, member 1 140 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 GGGCGAGACAGAGCATGGGGC 0.562000 OREG0007321 type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR1E1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 18 44 0 0 1 0 0 FLRT2 23768 broad.mit.edu 37 14 86089644 86089644 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:86089644G>A ENST00000330753.4 + 2 2553 c.1786G>A c.(1786-1788)Gac>Aac p.D596N FLRT2_ENST00000554746.1_Missense_Mutation_p.D596N NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 596 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) CACCAAGAAGGACAACTCCAT 0.483000 35 107 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 131976434 131976434 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:131976434C>T ENST00000356920.5 + 1 553 c.459C>T c.(457-459)ccC>ccT p.P153P POTEE_ENST00000358087.5_Silent_p.P153P|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 153 ATP binding GTAAAGTCCCCAGAAAGGATC 0.582000 54 24 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57406671 57406671 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:57406671C>T ENST00000543257.1 - 10 1659 c.1093G>A c.(1093-1095)Gac>Aac p.D365N C8B_ENST00000535057.1_Missense_Mutation_p.D355N|C8B_ENST00000371237.4_Missense_Mutation_p.D417N NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 417 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 ACCATGGTGTCCCTCTTGTTT 0.552000 9 24 0 0 1 0 0 TMEM241 85019 broad.mit.edu 37 18 20877975 20877975 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:20877975G>A ENST00000383233.3 - 15 939 c.887C>T c.(886-888)tCc>tTc p.S296F TMEM241_ENST00000475185.1_5'UTR|TMEM241_ENST00000450466.2_Intron NM_032933.4 NP_116322.3 Q24JQ0 CR045_HUMAN transmembrane protein 241 296 integral to membrane TCTTGTTCAGGAGCTCTTCCG 0.577000 13 34 0 0 1 0 0 GAD2 2572 broad.mit.edu 37 10 26558050 26558050 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:26558050G>A ENST00000376261.3 + 9 1426 c.923G>A c.(922-924)gGg>gAg p.G308E GAD2_ENST00000259271.3_Missense_Mutation_p.G308E NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 308 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CCTTCCAGAGGGAAAATGATT 0.403000 5 29 0 0 1 0 0 PLA2G4E 123745 broad.mit.edu 37 15 42276146 42276146 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:42276146C>T ENST00000399518.3 - 20 2899 c.2413G>A c.(2413-2415)Gag>Aag p.E805K PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E776K|CTD-2382E5.1_ENST00000499478.2_RNA NM_001206670.1 NP_001193599.1 Q3MJ16 PA24E_HUMAN phospholipase A2, group IVE 793 PLA2c. phospholipid catabolic process cytosol|lysosomal membrane metal ion binding|phospholipase A2 activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1) 16 all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273) OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06) TGGCCCTGCTCCAGCTCCTCA 0.517000 3 19 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124062268 124062268 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:124062268G>A ENST00000373818.4 + 1 198 c.129G>A c.(127-129)cgG>cgA p.R43R GSN_ENST00000341272.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000545652.1_Intron NM_000177.4|NM_001258029.1 NP_000168.1|NP_001244958.1 P06396 GELS_HUMAN gelsolin 43 actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 cccaggggcgggtgcccgagg 0.716000 4 6 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41033182 41033182 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:41033182G>A ENST00000399564.4 - 23 2772 c.2322C>T c.(2320-2322)ttC>ttT p.F774F MROH2B_ENST00000506092.2_Silent_p.F329F NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGGAAAACTGGAACCCCTGAT 0.453000 14 34 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117063404 117063404 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:117063404C>T ENST00000356083.3 + 52 5145 c.4755_splice c.e52+1 p.P1585_splice NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1585 Collagen-like 16.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TCGGGACTCCCGGTATGTGTG 0.587000 17 49 0 0 1 0 0 RNF39 80352 broad.mit.edu 37 6 30043420 30043420 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:30043420C>T ENST00000244360.6 - 1 244 c.147G>A c.(145-147)gcG>gcA p.A49A RNF39_ENST00000376751.3_Silent_p.A49A NM_025236.3 NP_079512.2 Q9H2S5 RNF39_HUMAN ring finger protein 39 49 cytoplasm zinc ion binding CCTTCGAGCGCGCAGATGGCG 0.672000 5 28 0 0 1 0 0 ANKLE1 126549 broad.mit.edu 37 19 17393774 17393774 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:17393774C>T ENST00000394458.3 + 4 699 c.423C>T c.(421-423)atC>atT p.I141I ANKLE1_ENST00000404085.1_Silent_p.I163I|ANKLE1_ENST00000594072.1_Silent_p.I130I|CTD-2278I10.6_ENST00000596542.1_3'UTR|ANKLE1_ENST00000598347.1_Silent_p.I141I|ANKLE1_ENST00000433424.2_Silent_p.I195I NM_152363.4 NP_689576.4 Q8NAG6 ANKL1_HUMAN ankyrin repeat and LEM domain containing 1 141 nuclear envelope large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 7 GGACCCGGATCGGGGCAGAGA 0.687000 OREG0025341 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 4 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74019436 74019436 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:74019436C>T ENST00000301607.3 - 4 670 c.417G>A c.(415-417)aaG>aaA p.K139K EVPL_ENST00000586740.1_Silent_p.K139K NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 139 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GCAGCACCATCTTCTCGTACA 0.627000 48 77 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45368806 45368806 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:45368806G>A ENST00000252483.5 + 2 367 c.367G>A c.(367-369)Gcc>Acc p.A123T PVRL2_ENST00000252485.4_Missense_Mutation_p.A123T NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 123 Ig-like V-type. 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) GCTCCAGGACGCCACGCTGGC 0.662000 29 79 0 0 1 0 0 RASGEF1B 153020 broad.mit.edu 37 4 82353484 82353484 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:82353484G>A ENST00000509081.1 - 13 1584 c.1363C>T c.(1363-1365)Cat>Tat p.H455Y RASGEF1B_ENST00000335927.7_Missense_Mutation_p.H414Y|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.H456Y Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 456 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1) 26 TTCTCTATATGATTTTCAGGT 0.378000 10 31 0 0 1 0 0 GGA3 23163 broad.mit.edu 37 17 73240699 73240699 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:73240699C>T ENST00000245541.6 - 4 517 c.e4+1 GGA3_ENST00000579743.1_Splice_Site|GGA3_ENST00000351904.7_Intron|GGA3_ENST00000582486.1_Splice_Site|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582717.1_Splice_Site|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000537686.1_Splice_Site NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) CGCTGACTGACCTTTGGAGAG 0.483000 36 187 0 0 1 0 0 SPANXN2 494119 broad.mit.edu 37 X 142795479 142795479 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:142795479G>A ENST00000370498.1 - 2 952 c.199C>T c.(199-201)Caa>Taa p.Q67* NM_001009615.1 NP_001009615.1 Q5MJ10 SPXN2_HUMAN SPANX family, member N2 67 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTCTCCAGTTGATTTGAATTT 0.438000 69 57 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144946926 144946926 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:144946926C>T ENST00000525985.1 - 2 567 c.496G>A c.(496-498)Gga>Aga p.G166R P58107 EPIPL_HUMAN epiplakin 1 166 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) ACGAGCACTCCCTGGGCGGGG 0.682000 5 11 0 0 1 0 0 DYRK3 8444 broad.mit.edu 37 1 206821727 206821727 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:206821727T>C ENST00000367106.1 + 4 1597 c.1124T>C c.(1123-1125)tTt>tCt p.F375S DYRK3_ENST00000367108.3_Missense_Mutation_p.F375S|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.F395S O43781 DYRK3_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 395 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) ATATGGAGTTTTGGCTGCATC 0.488000 37 91 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5173466 5173466 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:5173466G>A ENST00000380367.1 - 2 551 c.134C>T c.(133-135)tCc>tTc p.S45F OR52A1_ENST00000328942.1_Missense_Mutation_p.S45F Q9UKL2 O52A1_HUMAN olfactory receptor, family 52, subfamily A, member 1 45 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGAAGCAAGGAATTTCCAAT 0.468000 15 40 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89981675 89981675 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:89981675G>A ENST00000405460.2 + 29 6449 c.6353G>A c.(6352-6354)gGa>gAa p.G2118E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2118 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GATGCATTTGGAACTCTTCAG 0.433000 14 36 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117063403 117063403 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:117063403C>T ENST00000356083.3 + 52 5144 c.4753C>T c.(4753-4755)Ccg>Tcg p.P1585S NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 1585 Collagen-like 16.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TTCGGGACTCCCGGTATGTGT 0.587000 17 50 0 0 1 0 0 TEX13A 56157 broad.mit.edu 37 X 104464727 104464727 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:104464727C>T ENST00000372578.3 - 2 466 c.355G>A c.(355-357)Gag>Aag p.E119K IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.E119K|TEX13A_ENST00000413579.1_Missense_Mutation_p.E119K|IL1RAPL2_ENST00000372582.1_Intron NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 119 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 CGTTCCGTCTCCTGCTGCTCC 0.607000 9 11 0 0 1 0 0 PKD2L1 9033 broad.mit.edu 37 10 102055947 102055947 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:102055947A>G ENST00000318222.3 - 7 1670 c.1288T>C c.(1288-1290)Ttc>Ctc p.F430L PKD2L1_ENST00000338519.3_Missense_Mutation_p.F355L|PKD2L1_ENST00000353274.3_Missense_Mutation_p.F430L NM_001253837.1|NM_016112.2 NP_001240766.1|NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 430 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) AAGGCGAGGAACTCAAAGTCT 0.532000 22 50 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78437165 78437165 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:78437165C>T ENST00000278550.7 - 23 3971 c.3509G>A c.(3508-3510)gGa>gAa p.G1170E NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TAGGCTCCATCCTCCAAGCTT 0.458000 74 185 0 0 1 0 0 CTAGE4 100128553 broad.mit.edu 37 7 143882729 143882729 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:143882729G>A ENST00000486333.1 + 1 2171 c.2133G>A c.(2131-2133)agG>agA p.R711R NM_198495.2 NP_940897.2 Q8IX94 CTGE4_HUMAN CTAGE family, member 4 711 Pro-rich. integral to membrane endometrium(1)|ovary(2) 3 TGGATACAAGGGGCCCGTTCA 0.527000 43 120 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78322033 78322033 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:78322033C>T ENST00000582970.1 + 29 10041 c.9898C>T c.(9898-9900)Ctt>Ttt p.L3300F RNF213_ENST00000336301.6_Missense_Mutation_p.L1373F|RNF213_ENST00000508628.2_Missense_Mutation_p.L3349F NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TGCAGATTTCCTTCAGGCACA 0.587000 19 117 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1043233 1043233 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:1043233C>T ENST00000360803.4 + 5 628 c.546C>T c.(544-546)tcC>tcT p.S182S GTPBP4_ENST00000538293.1_Silent_p.S66S|GTPBP4_ENST00000545048.1_Silent_p.S135S|GTPBP4_ENST00000491635.1_3'UTR NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 182 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) TTGGGAAGTCCAGCTTCATCA 0.448000 46 94 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142655026 142655026 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142655026G>A ENST00000355265.2 - 6 1034 c.560C>T c.(559-561)tCc>tTc p.S187F KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 187 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AAAGTTTAAGGAAGTCCATTT 0.517000 16 31 0 0 1 0 0 KIF21B 23046 broad.mit.edu 37 1 200978531 200978531 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:200978531C>T ENST00000332129.2 - 2 443 c.127G>A c.(127-129)Ggg>Agg p.G43R KIF21B_ENST00000422435.2_Missense_Mutation_p.G43R|KIF21B_ENST00000461742.2_Missense_Mutation_p.G43R|KIF21B_ENST00000360529.5_Missense_Mutation_p.G43R NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 43 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TTGTCCTTCCCCAGCAGGACC 0.567000 13 64 0 0 1 0 0 PARL 55486 broad.mit.edu 37 3 183547402 183547402 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:183547402C>T ENST00000317096.4 - 10 1184 c.1124G>A c.(1123-1125)gGa>gAa p.G375E PARL_ENST00000435888.1_Missense_Mutation_p.G291E|PARL_ENST00000311101.5_Missense_Mutation_p.G325E NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 375 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGAGCCACCTCCTTTTTTGGG 0.493000 49 152 0 0 1 0 0 GPR20 2843 broad.mit.edu 37 8 142367831 142367831 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:142367831G>A ENST00000377741.3 - 2 283 c.193C>T c.(193-195)Ctg>Ttg p.L65L NM_005293.2 NP_005284.2 Q99678 GPR20_HUMAN G protein-coupled receptor 20 65 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) AGCCCTGCCAGGAAGATGGCT 0.652000 16 22 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35752064 35752064 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:35752064G>A ENST00000400441.3 - 15 1923 c.1924C>T c.(1924-1926)Cca>Tca p.P642S MROH8_ENST00000441008.2_Missense_Mutation_p.P628S|MROH8_ENST00000217333.8_Missense_Mutation_p.P471S maestro heat-like repeat family member 8 AGGCCACTTGGGATGTCGACA 0.483000 15 82 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58110173 58110173 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:58110173G>A ENST00000357272.4 + 22 4004 c.3839G>A c.(3838-3840)tGc>tAc p.C1280Y FLNB_ENST00000493452.1_Missense_Mutation_p.C1111Y|FLNB_ENST00000419752.2_Missense_Mutation_p.C1111Y|FLNB_ENST00000429972.2_Missense_Mutation_p.C1280Y|FLNB_ENST00000358537.3_Missense_Mutation_p.C1280Y|FLNB_ENST00000348383.5_Missense_Mutation_p.C1280Y|FLNB_ENST00000295956.4_Missense_Mutation_p.C1280Y|FLNB_ENST00000490882.1_Missense_Mutation_p.C1280Y O75369 FLNB_HUMAN filamin B, beta 1280 Interaction with FBLP1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TCCACCGAGTGCTTTGTCACA 0.592000 11 43 0 0 1 0 0 RETNLB 84666 broad.mit.edu 37 3 108476028 108476028 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:108476028C>T ENST00000295755.6 - 1 203 c.5G>A c.(4-6)gGg>gAg p.G2E NM_032579.2 NP_115968.1 Q9BQ08 RETNB_HUMAN resistin like beta 2 cell proliferation extracellular region hormone activity endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1) 16 AGAGGACGGCCCCATCCTGTA 0.522000 20 40 0 0 1 0 0 OR5J2 282775 broad.mit.edu 37 11 55944103 55944103 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:55944103G>A ENST00000312298.1 + 1 10 c.10G>A c.(10-12)Gat>Aat p.D4N NM_001005492.1 NP_001005492.1 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, member 2 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 44 Esophageal squamous(21;0.00693) TATGGCTGATGATAATTTTAC 0.318000 19 56 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9082369 9082369 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9082369G>A ENST00000397910.4 - 1 9649 c.9446C>T c.(9445-9447)tCa>tTa p.S3149L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3150 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 GGCAGGAACTGAAATAGAGCT 0.458000 31 47 0 0 1 0 0 KCNMB2 10242 broad.mit.edu 37 3 178546080 178546080 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:178546080C>T ENST00000432997.1 + 4 694 c.342C>T c.(340-342)ctC>ctT p.L114L KCNMB2_ENST00000420517.2_Silent_p.L114L|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.L114L|KCNMB2_ENST00000452583.1_Silent_p.L114L|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA NM_005832.3 NP_005823.1 Q9Y691 KCMB2_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 2 114 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) ACCCCTGCCTCCAGGTGTACG 0.478000 18 50 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299291 125299291 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:125299291G>A ENST00000538699.1 - 2 697 c.617C>T c.(616-618)aCc>aTc p.T206I DCAF12L2_ENST00000360028.2_Missense_Mutation_p.T206I NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 206 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CACAGCTACGGTGTCACTCAG 0.652000 20 14 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6645674 6645674 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:6645674G>A ENST00000229239.5 + 3 710 c.44G>A c.(43-45)gGg>gAg p.G15E GAPDH_ENST00000396859.1_Missense_Mutation_p.G15E|GAPDH_ENST00000396856.1_5'UTR|GAPDH_ENST00000396861.1_Missense_Mutation_p.G15E|GAPDH_ENST00000396858.1_5'UTR NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 15 Interaction with WARS. gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) GGTCGTATTGGGCGCCTGGTC 0.512000 32 70 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155500260 155500260 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:155500260G>A ENST00000461783.3 + 13 3884 c.2611G>A c.(2611-2613)Gaa>Aaa p.E871K TIAM2_ENST00000367174.2_Missense_Mutation_p.E247K|TIAM2_ENST00000318981.5_Missense_Mutation_p.E871K|TIAM2_ENST00000456877.2_Missense_Mutation_p.E183K|TIAM2_ENST00000456144.1_Missense_Mutation_p.E871K|TIAM2_ENST00000360366.4_Missense_Mutation_p.E895K|TIAM2_ENST00000528391.2_Missense_Mutation_p.E207K|TIAM2_ENST00000529824.2_Missense_Mutation_p.E871K Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 871 RBD. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TGCACCATATGAATATATGCA 0.388000 12 29 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26915882 26915882 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:26915882G>A ENST00000231021.4 - 3 551 c.379C>T c.(379-381)Cgt>Tgt p.R127C NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 127 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 GCCTTGGCACGAAGAATGTAC 0.393000 70 74 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167189477 167189477 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:167189477G>A ENST00000476257.1 - 3 444 c.146C>T c.(145-147)cCc>cTc p.P49L SERPINI2_ENST00000471111.1_Missense_Mutation_p.P49L|SERPINI2_ENST00000264677.4_Missense_Mutation_p.P49L|SERPINI2_ENST00000461846.1_Missense_Mutation_p.P49L|SERPINI2_ENST00000465031.1_5'UTR O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 49 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.P49H(1) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 TATTCCAAGGGGTGAAAATAT 0.393000 21 64 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103131239 103131239 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:103131239G>A ENST00000424685.2 - 59 9640 c.9481C>T c.(9481-9483)Cct>Tct p.P3161S CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.P3161S|RELN_ENST00000343529.5_Missense_Mutation_p.P3161S P78509 RELN_HUMAN reelin 3161 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GAAGAGGAAGGAAGGCACTGG 0.448000 16 45 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94909009 94909009 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:94909009G>A ENST00000334708.3 - 5 1267 c.1203C>T c.(1201-1203)ctC>ctT p.L401L RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 401 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) CCTCCCAAAGGAGCAAGAGGA 0.567000 6 14 0 0 1 0 0 LNP1 348801 broad.mit.edu 37 3 100174769 100174769 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:100174769A>G ENST00000383693.3 + 4 1816 c.536A>G c.(535-537)tAa>tGa p.*179* LNP1_ENST00000489752.1_Silent_p.*192* NM_001085451.1 NP_001078920.1 A1A4G5 LNP1_HUMAN leukemia NUP98 fusion partner 1 0 cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 GGGCCTGAATAATACTCTGCT 0.463000 29 49 0 0 1 0 0 OR10Q1 219960 broad.mit.edu 37 11 57996128 57996128 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:57996128C>T ENST00000316770.2 - 1 262 c.220G>A c.(220-222)Gaa>Aaa p.E74K NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) TAGCAGAGTTCCAGGAAAGAC 0.537000 16 50 0 0 1 0 0 INSL6 11172 broad.mit.edu 37 9 5164230 5164230 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:5164230C>T ENST00000381641.3 - 2 390 c.325G>A c.(325-327)Gaa>Aaa p.E109K INSL6_ENST00000510407.1_5'UTR NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 109 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) GACTGCATTTCCCAACTGTTT 0.318000 17 63 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22369155 22369155 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:22369155C>T ENST00000332663.2 + 1 678 c.580C>T c.(580-582)Cca>Tca p.P194S RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P194S(1) 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) CAACACCTTCCCAGAGGAGTT 0.473000 36 174 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100194382 100194382 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:100194382C>T ENST00000355295.4 + 4 720 c.425C>T c.(424-426)cCg>cTg p.P142L TDRD7_ENST00000422139.2_Missense_Mutation_p.P68L NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 142 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) AATCCAGCACCGTTAAGAGAC 0.388000 18 75 0 0 1 0 0 GCK 2645 broad.mit.edu 37 7 44187426 44187426 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:44187426C>T ENST00000403799.3 - 7 1155 c.686G>A c.(685-687)gGc>gAc p.G229D GCK_ENST00000395796.3_Missense_Mutation_p.G228D|GCK_ENST00000345378.2_Missense_Mutation_p.G230D|GCK_ENST00000437084.1_Missense_Mutation_p.G212D NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 229 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 GGCATTGCAGCCCGTGCCTGG 0.677000 68 190 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 534285 534285 + Missense_Mutation SNP C C T rs104894226 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:534285C>T ENST00000417302.1 - 2 225 c.38G>A c.(37-39)gGt>gAt p.G13D HRAS_ENST00000451590.1_Missense_Mutation_p.G13D|HRAS_ENST00000397594.1_Missense_Mutation_p.G13D|HRAS_ENST00000397596.2_Missense_Mutation_p.G13D|HRAS_ENST00000311189.7_Missense_Mutation_p.G13D|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 13 G -> C (in FCSS).|G -> D (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13V(14)|p.G13D(10)|p.G12_G13insAG(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CTTGCCCACACCGCCGGCGCC 0.642000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 8 27 0 0 1 0 0 CCK 885 broad.mit.edu 37 3 42304977 42304977 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:42304977C>T ENST00000396169.2 - 4 1051 c.146G>A c.(145-147)aGa>aAa p.R49K CCK_ENST00000434608.1_Missense_Mutation_p.R49K|CCK_ENST00000334681.5_Missense_Mutation_p.R49K NM_000729.4 NP_000720.1 P06307 CCKN_HUMAN cholecystokinin 49 axonogenesis|eating behavior|neuron migration neuropeptide hormone activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 Ovarian(412;0.0728) KIRC - Kidney renal clear cell carcinoma(284;0.219) GCCATCCGTTCTCTGCGATAC 0.687000 25 70 0 0 1 0 0 BAHCC1 57597 broad.mit.edu 37 17 79428108 79428108 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:79428108C>T ENST00000307745.7 + 30 6419 c.6419C>T c.(6418-6420)cCc>cTc p.P2140L RP11-1055B8.8_ENST00000572590.1_RNA GCCCTGTTCCCCGTGCACAGC 0.697000 3 17 0 0 1 0 0 GNLY 10578 broad.mit.edu 37 2 85922508 85922508 + Missense_Mutation SNP G G A rs79199677 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:85922508G>A ENST00000409696.3 + 3 355 c.73G>A c.(73-75)Gag>Aag p.E25K GNLY_ENST00000263863.4_Missense_Mutation_p.E40K|GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000524600.1_Missense_Mutation_p.E67K NM_012483.2 NP_036615.2 P22749 GNLY_HUMAN granulysin 40 cellular defense response|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1) 19 GCGTGATGAGGAGAAATCCTG 0.622000 5 23 0 0 1 0 0 TMEM108 66000 broad.mit.edu 37 3 133099414 133099414 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:133099414G>A ENST00000515826.1 + 3 982 c.859G>A c.(859-861)Ggt>Agt p.G287S TMEM108_ENST00000393130.3_Missense_Mutation_p.G287S|TMEM108_ENST00000321871.6_Missense_Mutation_p.G287S|TMEM108_ENST00000508711.1_Intron Q6UXF1 TM108_HUMAN transmembrane protein 108 287 integral to membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 AGCCCAGGGGGGTGGTTCTAC 0.652000 10 25 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70331897 70331897 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:70331897C>T ENST00000338508.4 - 32 4503 c.4504G>A c.(4504-4506)Gac>Aac p.D1502N SHANK2_ENST00000409161.1_Missense_Mutation_p.D905N|SHANK2_ENST00000449833.2_Missense_Mutation_p.D906N|SHANK2_ENST00000423696.2_Missense_Mutation_p.D1122N Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1122 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AGGTGGTGGTCGCTGCTACTC 0.582000 15 37 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110857848 110857848 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:110857848C>T ENST00000375820.4 - 16 1017 c.896G>A c.(895-897)gGg>gAg p.G299E COL4A1_ENST00000543140.1_Missense_Mutation_p.G299E NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 299 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) TACGGGACTCCCTTTTTCCCC 0.453000 32 100 0 0 1 0 0 COL4A3BP 10087 broad.mit.edu 37 5 74695139 74695139 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:74695139G>A ENST00000380494.5 - 12 1861 c.1568C>T c.(1567-1569)tCc>tTc p.S523F COL4A3BP_ENST00000405807.4_Missense_Mutation_p.S395F|COL4A3BP_ENST00000261415.7_Intron NM_001130105.1 NP_001123577.1 Q9Y5P4 C43BP_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) binding protein 395 START. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1) 16 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) CAGTACCTGGGAGCTGAATCT 0.438000 6 19 0 0 1 0 0 UHRF1BP1L 23074 broad.mit.edu 37 12 100478272 100478272 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:100478272G>A ENST00000279907.7 - 10 1482 c.1270C>T c.(1270-1272)Ccc>Tcc p.P424S UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.P424S|UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.P74S NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1-like 424 breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 50 GTGTGCTGGGGAGAGGCATGT 0.418000 22 63 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8244150 8244150 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:8244150G>A ENST00000332175.8 + 15 3432 c.2395G>A c.(2395-2397)Ggc>Agc p.G799S PTPRM_ENST00000444013.1_Missense_Mutation_p.G586S|PTPRM_ENST00000400053.4_Missense_Mutation_p.G737S|PTPRM_ENST00000400060.4_Missense_Mutation_p.G799S|PTPRM_ENST00000580170.1_Missense_Mutation_p.G799S NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 799 homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) TGCTGAGCAGGGCACAAACTG 0.488000 20 72 0 0 1 0 0 FBXO10 26267 broad.mit.edu 37 9 37541745 37541745 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:37541745G>A ENST00000432825.2 - 2 69 c.21C>T c.(19-21)ccC>ccT p.P7P RP11-613M10.8_ENST00000537239.2_3'UTR|RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron NM_012166.2 NP_036298.2 Q9UK96 FBX10_HUMAN F-box protein 10 7 F-box. ubiquitin ligase complex ubiquitin-protein ligase activity breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 34 GBM - Glioblastoma multiforme(29;0.0107) ACAGCTCCAAGGGGAGGCCAC 0.522000 11 28 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172165900 172165900 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:172165900G>A ENST00000241256.2 - 1 346 c.304C>T c.(304-306)Cgc>Tgc p.R102C GHSR_ENST00000427970.1_Missense_Mutation_p.R102C NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 102 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TGCCAGAGGCGAACGAGGTCC 0.612000 12 32 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10296288 10296288 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:10296288C>T ENST00000403437.2 - 37 5417 c.5323G>A c.(5323-5325)Gaa>Aaa p.E1775K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1775 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 GTGTCCTGTTCCTTCTTCAGC 0.512000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 37 103 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52534273 52534273 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:52534273C>T ENST00000261839.7 - 20 2689 c.2528G>A c.(2527-2529)gGa>gAa p.G843E MYO5C_ENST00000443683.2_Intron NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 843 IQ 4. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TGCCAGGAATCCTCGGCTGTA 0.547000 45 129 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903853 5903853 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:5903853G>A ENST00000378961.4 + 4 1267 c.1063G>A c.(1063-1065)Gag>Aag p.E355K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 355 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CCAGGCCCCTGAGGACCTGGA 0.527000 83 81 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74313579 74313579 + Silent SNP C C G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:74313579C>G ENST00000263665.6 - 22 3087 c.3060G>C c.(3058-3060)ctG>ctC p.L1020L CNTN3_ENST00000477856.1_5'UTR NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 1020 cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CAATTAAGAACAGTACTATAG 0.353000 3 27 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137207 40137207 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:40137207G>A ENST00000278198.2 - 2 2599 c.636C>T c.(634-636)atC>atT p.I212I LRRC4C_ENST00000527150.1_Silent_p.I212I|LRRC4C_ENST00000530763.1_Silent_p.I212I|LRRC4C_ENST00000528697.1_Silent_p.I212I Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 212 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) TGAGGTTAGGGATTTCCCGAA 0.458000 20 40 0 0 1 0 0 KLHL8 57563 broad.mit.edu 37 4 88085213 88085213 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:88085213G>A ENST00000273963.5 - 9 1897 c.1556C>T c.(1555-1557)tCt>tTt p.S519F KLHL8_ENST00000512111.1_Missense_Mutation_p.S519F|KLHL8_ENST00000545252.1_Missense_Mutation_p.S168F|KLHL8_ENST00000425278.2_Missense_Mutation_p.S336F|KLHL8_ENST00000498875.2_Missense_Mutation_p.S443F NM_020803.3 NP_065854.3 Q9P2G9 KLHL8_HUMAN kelch-like family member 8 519 breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 17 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) ACTCAGAGGAGAATTATCATC 0.393000 12 36 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54844928 54844928 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:54844928C>T ENST00000291759.4 - 8 1471 c.1415G>A c.(1414-1416)aGa>aAa p.R472K AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 472 integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TGGGGGGCTTCTCTGGCTGTG 0.547000 10 48 0 0 1 0 0 OR2W1 26692 broad.mit.edu 37 6 29012883 29012883 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:29012883C>T ENST00000377175.1 - 1 134 c.70G>A c.(70-72)Gag>Aag p.E24K NM_030903.3 NP_112165.1 Q9Y3N9 OR2W1_HUMAN olfactory receptor, family 2, subfamily W, member 1 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1) 23 AGGATCATCTCCATTTTTGGA 0.408000 34 45 0 0 1 0 0 PDPN 10630 broad.mit.edu 37 1 13936951 13936951 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:13936951C>T ENST00000294489.6 + 3 840 c.499C>T c.(499-501)Cac>Tac p.H167Y PDPN_ENST00000376061.4_Missense_Mutation_p.H49Y|PDPN_ENST00000475043.1_Missense_Mutation_p.H49Y|PDPN_ENST00000513143.1_Missense_Mutation_p.H49Y|PDPN_ENST00000376057.4_Missense_Mutation_p.H167Y|PDPN_ENST00000487038.1_Missense_Mutation_p.H49Y|PDPN_ENST00000509009.1_Missense_Mutation_p.H86Y Q86YL7 PDPN_HUMAN podoplanin 91 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) AAGCACAGTCCACGCGCAAGA 0.507000 14 52 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132171137 132171137 + Silent SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:132171137T>C ENST00000360971.2 + 3 341 c.321T>C c.(319-321)agT>agC p.S107S NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 107 SMB 1. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CAGTTAAAAGTTGCAAAGGTC 0.383000 16 21 0 0 1 0 0 FNDC3A 22862 broad.mit.edu 37 13 49749598 49749598 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:49749598C>T ENST00000492622.2 + 13 1756 c.1451C>T c.(1450-1452)tCc>tTc p.S484F FNDC3A_ENST00000398316.3_Missense_Mutation_p.S428F|FNDC3A_ENST00000541916.1_Missense_Mutation_p.S484F NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 484 Fibronectin type-III 3. Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) ACTTGGTTATCCTTACAATGG 0.393000 8 28 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15844178 15844178 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:15844178G>A ENST00000338282.6 - 16 1981 c.1875C>T c.(1873-1875)atC>atT p.I625I MYH11_ENST00000300036.5_Silent_p.I625I|MYH11_ENST00000452625.2_Silent_p.I632I|MYH11_ENST00000576790.1_Silent_p.I625I|MYH11_ENST00000396324.3_Silent_p.I632I NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 625 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 CCAGGCCCACGATGCGGTCCA 0.647000 T CBFB AML 4 9 0 0 1 0 0 CYP1A2 1544 broad.mit.edu 37 15 75042806 75042806 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:75042806C>T ENST00000343932.4 + 2 790 c.727C>T c.(727-729)Cgc>Tgc p.R243C NM_000761.3 NP_000752.2 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 2 243 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) CCCCATCCTTCGCTACCTGCC 0.557000 38 86 0 0 1 0 0 MEIS1 4211 broad.mit.edu 37 2 66667002 66667002 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:66667002G>A ENST00000488550.1 + 3 566 c.267G>A c.(265-267)ctG>ctA p.L89L MEIS1_ENST00000407092.2_Silent_p.L89L|MEIS1_ENST00000495021.2_Silent_p.L24L|MEIS1_ENST00000398506.2_Silent_p.L87L|MEIS1-AS1_ENST00000454595.1_RNA|MEIS1_ENST00000272369.9_Silent_p.L89L|MEIS1_ENST00000444274.2_Silent_p.L57L|MEIS1-AS2_ENST00000439433.1_RNA|MEIS1_ENST00000560281.2_Silent_p.L89L O00470 MEIS1_HUMAN Meis homeobox 1 89 sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 TCTTAGCACTGATTTTTGAGA 0.493000 10 26 0 0 1 0 0 GALNS 2588 broad.mit.edu 37 16 88902153 88902153 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:88902153C>T ENST00000268695.5 - 7 826 c.738G>A c.(736-738)ttG>ttA p.L246L GALNS_ENST00000542788.1_Silent_p.L171L NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 246 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) GACTGGTGCCCAAGAAGGGTT 0.607000 20 32 0 0 1 0 0 FAM35A 54537 broad.mit.edu 37 10 88911342 88911342 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:88911342C>T ENST00000298786.4 + 3 345 c.231C>T c.(229-231)ttC>ttT p.F77F FAM35A_ENST00000298784.1_Silent_p.F77F Q86V20 FA35A_HUMAN family with sequence similarity 35, member A 77 endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2) 16 GTGGTCATTTCTTAGCAAACT 0.343000 13 29 0 0 1 0 0 PSG7 5676 broad.mit.edu 37 19 43433748 43433748 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:43433748C>T ENST00000406070.2 - 0 651 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TAGGGAGGCTCTGACCATTCA 0.502000 69 220 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152804247 152804247 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:152804247C>T ENST00000367255.5 - 14 1924 c.1323G>A c.(1321-1323)acG>acA p.T441T SYNE1_ENST00000367253.4_Silent_p.T441T|SYNE1_ENST00000341594.5_Silent_p.T441T|SYNE1_ENST00000367248.3_Silent_p.T431T|SYNE1_ENST00000448038.1_Silent_p.T448T|SYNE1_ENST00000265368.4_Silent_p.T441T|SYNE1_ENST00000466159.2_Silent_p.T441T|SYNE1_ENST00000413186.2_Silent_p.T441T|SYNE1_ENST00000423061.1_Silent_p.T448T NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 441 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCCGTTGTATCGTGTTTGCTG 0.502000 HNSCC(10;0.0054) 48 172 0 0 1 0 0 CAMK1 8536 broad.mit.edu 37 3 9804831 9804831 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:9804831G>A ENST00000256460.3 - 4 459 c.282C>T c.(280-282)atC>atT p.I94I OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000449570.2_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302008.8_Intron NM_003656.4 NP_003647.1 Q14012 KCC1A_HUMAN calcium/calmodulin-dependent protein kinase I 94 Protein kinase. cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1) 12 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.0475) ACAGCTGCATGATGAGGTAGA 0.577000 18 58 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234869462 234869462 + Missense_Mutation SNP G G C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:234869462G>C ENST00000324695.4 + 12 1445 c.1405G>C c.(1405-1407)Gac>Cac p.D469H TRPM8_ENST00000433712.2_Missense_Mutation_p.D157H NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 469 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TCTCATAAAGGACAGACCCAA 0.433000 38 28 0 0 1 0 0 LHX3 8022 broad.mit.edu 37 9 139091705 139091705 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:139091705G>A ENST00000371746.3 - 3 406 c.288C>T c.(286-288)gcC>gcT p.A96A LHX3_ENST00000371748.5_Silent_p.A91A NM_014564.3 NP_055379.1 Q9UBR4 LHX3_HUMAN LIM homeobox 3 91 LIM zinc-binding 2. inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 8 Myeloproliferative disorder(178;0.0511) Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07) GCTGGCACGCGGCGCACTTGG 0.711000 6 10 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6681967 6681967 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:6681967G>A ENST00000245907.6 - 35 4427 c.4335C>T c.(4333-4335)atC>atT p.I1445I NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1445 Properdin-binding. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CCAGGTAGATGATGAGGGTGT 0.517000 39 80 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44555466 44555466 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:44555466G>A ENST00000289547.4 - 19 3868 c.3813C>T c.(3811-3813)ctC>ctT p.L1271L NPC1L1_ENST00000381160.3_Silent_p.L1244L|NPC1L1_ENST00000546276.1_Silent_p.L1198L NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1271 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GAGTGATCAGGAGGTTGAGGC 0.592000 12 37 0 0 1 0 0 APOH 350 broad.mit.edu 37 17 64216781 64216781 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:64216781G>A ENST00000205948.6 - 5 532 c.495C>T c.(493-495)ctC>ctT p.L165L NM_000042.2 NP_000033.2 P02749 APOH_HUMAN apolipoprotein H (beta-2-glycoprotein I) 165 Sushi 3. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) TGTCCCGATAGAGGGAATTGT 0.423000 25 120 0 0 1 0 0 RPN1 6184 broad.mit.edu 37 3 128344834 128344834 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:128344834G>A ENST00000296255.3 - 7 1206 c.1158C>T c.(1156-1158)ccC>ccT p.P386P RPN1_ENST00000490166.1_5'UTR|RPN1_ENST00000497289.1_Silent_p.P214P NM_002950.3 NP_002941.1 P04843 RPN1_HUMAN ribophorin I 386 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2) 13 GBM - Glioblastoma multiforme(114;0.189) TGATTTCATAGGGACTATCAA 0.433000 T EVI1 AML 15 37 0 0 1 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47582484 47582484 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:47582484C>T ENST00000371917.4 + 8 983 c.983C>T c.(982-984)cCc>cTc p.P328L NM_006420.2 NP_006411.2 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) 328 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGTGCTATTCCCCCAGGAGTT 0.473000 25 23 0 0 1 0 0 HEXIM1 10614 broad.mit.edu 37 17 43226932 43226932 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:43226932C>T ENST00000332499.2 + 1 2249 c.375C>T c.(373-375)tcC>tcT p.S125S NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 125 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GTCATGACTCCGAGGCCAGTA 0.657000 OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 1 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058352 152058352 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:152058352C>T ENST00000368806.1 - 3 1870 c.1806G>A c.(1804-1806)gaG>gaA p.E602E NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 602 calcium ion binding breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) CTCTGTTTTTCTCACCAGGTG 0.537000 39 87 0 0 1 0 0 LMCD1 29995 broad.mit.edu 37 3 8579050 8579050 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:8579050C>T ENST00000157600.3 + 3 543 c.311C>T c.(310-312)cCt>cTt p.P104L LMCD1_ENST00000454244.1_Missense_Mutation_p.P31L|LMCD1_ENST00000535732.1_Missense_Mutation_p.P104L|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Intron NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 104 PET. positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) ATGACCAACCCTATTGCTACT 0.547000 53 150 0 0 1 0 0 ACTL7A 10881 broad.mit.edu 37 9 111625419 111625419 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:111625419G>A ENST00000333999.3 + 1 817 c.817G>A c.(817-819)Gag>Aag p.E273K NM_006687.2 NP_006678.1 Q9Y615 ACL7A_HUMAN actin-like 7A 273 cytoplasm|cytoskeleton|protein complex structural constituent of cytoskeleton breast(1)|endometrium(2)|large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 GGGCATCGTGGAGGACATCAA 0.582000 20 41 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55450587 55450587 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:55450587A>G ENST00000588756.1 - 6 2086 c.1600T>C c.(1600-1602)Ttg>Ctg p.L534L NLRP7_ENST00000592784.1_Silent_p.L534L|NLRP7_ENST00000448121.2_Silent_p.L534L|NLRP7_ENST00000590030.1_Silent_p.L534L|NLRP7_ENST00000340844.2_Silent_p.L534L|NLRP7_ENST00000446217.1_Silent_p.L562L|NLRP7_ENST00000328092.5_Silent_p.L534L Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 534 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GTGGCCTCCAACTCCTTGGCT 0.498000 9 40 0 0 1 0 0 XPO4 64328 broad.mit.edu 37 13 21442841 21442841 + Splice_Site SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:21442841C>A ENST00000400602.2 - 2 105 c.e2-1 XPO4_ENST00000490513.1_Splice_Site|XPO4_ENST00000255305.6_Splice_Site NM_022459.4 NP_071904.4 Q9C0E2 XPO4_HUMAN exportin 4 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AAGGTGGTGCCTTGAGAGTTA 0.353000 18 37 7.41877e-09 7.51573e-09 1 1 0 DNAH3 55567 broad.mit.edu 37 16 21049085 21049085 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:21049085G>A ENST00000261383.3 - 34 4947 c.4948C>T c.(4948-4950)Cag>Tag p.Q1650* DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Q1650* NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1650 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CTACATACCTGAAACAGAGGG 0.502000 8 16 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123630908 123630908 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:123630908C>T ENST00000422452.2 - 20 3716 c.3653G>A c.(3652-3654)aGa>aAa p.R1218K TENM1_ENST00000371130.3_Missense_Mutation_p.R1218K|TENM1_ENST00000461429.1_5'UTR NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GGGAAATATTCTCCTTACAAA 0.413000 14 16 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154625158 154625158 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:154625158C>T ENST00000260010.6 + 1 2507 c.1099C>T c.(1099-1101)Ctc>Ttc p.L367F NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 367 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) ATACTTGGATCTCAGTGAAAA 0.328000 5 27 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509428 106509428 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:106509428C>T ENST00000359195.3 + 2 1732 c.1422C>T c.(1420-1422)ctC>ctT p.L474L PIK3CG_ENST00000440650.2_Silent_p.L474L|PIK3CG_ENST00000496166.1_Silent_p.L474L NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 474 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 ACCGTTTCCTCCTGCGCCGTG 0.522000 27 61 0 0 1 0 0 SPACA3 124912 broad.mit.edu 37 17 31322518 31322518 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:31322518G>A ENST00000269053.3 + 2 196 c.126G>A c.(124-126)caG>caA p.Q42Q SPACA3_ENST00000394638.1_Intron|SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000580599.1_5'UTR NM_173847.3 NP_776246.1 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 42 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) CTCTGAGCCAGAGTGGTGGTG 0.612000 43 37 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 71130513 71130513 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:71130513C>T ENST00000333538.5 + 7 1832 c.1198C>T c.(1198-1200)Cgc>Tgc p.R400C WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 400 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GAATGCTCTTCGCGTTGCTGA 0.537000 20 63 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45267366 45267366 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:45267366C>T ENST00000372201.4 + 4 747 c.508C>T c.(508-510)Ctt>Ttt p.L170F PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 170 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GCGGCAGATCCTTTCTGGCCT 0.632000 24 67 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11631201 11631201 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:11631201C>T ENST00000262442.3 + 28 5844 c.5776C>T c.(5776-5778)Cga>Tga p.R1926* DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R1926* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1926 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGAGTTTAATCGAATCTCCGT 0.478000 10 27 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38881853 38881853 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:38881853G>A ENST00000274276.3 + 4 807 c.405G>A c.(403-405)tgG>tgA p.W135* OSMR_ENST00000502536.1_Nonsense_Mutation_p.W135* NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 135 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) GGAGTTCCTGGGAGGAAGTCA 0.418000 22 67 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9077142 9077142 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9077142C>T ENST00000397910.4 - 3 10507 c.10304G>A c.(10303-10305)gGg>gAg p.G3435E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3436 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 GATGTCACTCCCAGATGTCTG 0.458000 38 77 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31299667 31299667 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:31299667G>A ENST00000265071.2 + 5 1005 c.740G>A c.(739-741)gGa>gAa p.G247E CDH6_ENST00000514738.1_Missense_Mutation_p.G192E NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 247 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CAGATGGGAGGATTATCTGGG 0.478000 16 65 0 0 1 0 0 GABRP 2568 broad.mit.edu 37 5 170221237 170221237 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:170221237G>A ENST00000518525.1 + 5 639 c.175G>A c.(175-177)Gaa>Aaa p.E59K GABRP_ENST00000519598.1_Missense_Mutation_p.E59K|GABRP_ENST00000265294.4_Missense_Mutation_p.E59K|GABRP_ENST00000519385.1_Missense_Mutation_p.E59K O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 59 cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TATCTTAGGAGAACCCGTACA 0.358000 16 37 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141747584 141747584 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:141747584G>A ENST00000475668.2 + 22 2552 c.e22-1 MGAM_ENST00000549489.2_Splice_Site O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GTTCCCCACAGTCGAAAGAAC 0.413000 7 23 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45815369 45815369 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:45815369C>T ENST00000397928.1 + 12 2312 c.1867C>T c.(1867-1869)Cgt>Tgt p.R623C TRPM2_ENST00000300482.5_Missense_Mutation_p.R623C|TRPM2_ENST00000397932.2_Missense_Mutation_p.R623C|TRPM2_ENST00000300481.9_Missense_Mutation_p.R603C|TRPM2_ENST00000498430.1_3'UTR NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 623 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GGACCCCATCCGTGACCTTCT 0.572000 30 53 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1634460 1634460 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:1634460C>T ENST00000409644.1 + 4 4065 c.4065C>T c.(4063-4065)taC>taT p.Y1355Y WDR81_ENST00000545662.1_Intron|WDR81_ENST00000309182.5_Silent_p.Y304Y|WDR81_ENST00000437219.2_Silent_p.Y152Y|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.Y128Y|WDR81_ENST00000446363.1_5'UTR NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 128 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TCATCGTGTACCTCTCAGACA 0.647000 15 16 0 0 1 0 0 HBG2 3048 broad.mit.edu 37 11 5274519 5274519 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:5274519G>A ENST00000380259.2 - 8 1672 c.432C>T c.(430-432)tcC>tcT p.S144S HBG2_ENST00000336906.4_Silent_p.S144S|HBG2_ENST00000380252.1_Silent_p.S134S hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGTGGTATCTGGAGGACAGGG 0.483000 30 43 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122033369 122033369 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:122033369C>T ENST00000334010.7 - 20 3304 c.2882_splice c.e20-1 p.K961_splice RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000449022.2_Splice_Site_p.K963_splice|CADPS2_ENST00000412584.2_Intron|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Intron NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 963 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 TGGCGATATTCCTGTAAAGAA 0.458000 19 42 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205273110 205273110 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:205273110G>A ENST00000367157.3 - 7 1481 c.1355C>T c.(1354-1356)cCc>cTc p.P452L NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 452 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) GCGCTGTCGGGGCTTCTTGAG 0.642000 3 22 0 0 1 0 0 THSD4 79875 broad.mit.edu 37 15 72040924 72040924 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:72040924G>A ENST00000355327.3 + 14 2540 c.2406G>A c.(2404-2406)tgG>tgA p.W802* THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Nonsense_Mutation_p.W802*|THSD4_ENST00000357769.4_Nonsense_Mutation_p.W442* Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 802 TSP type-1 4. proteinaceous extracellular matrix metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TCACCGAGTGGAGCGAAAGGG 0.567000 4 15 0 0 1 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212144 26212144 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:26212144C>T ENST00000379034.1 + 2 330 c.181C>T c.(181-183)Cct>Tct p.P61S NM_173523.2 NP_775794.2 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 61 Ser-rich. breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2) 33 TGCCTCCATTCCTCAGGAGTC 0.532000 25 17 0 0 1 0 0 TMEM200C 645369 broad.mit.edu 37 18 5892008 5892008 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:5892008G>A ENST00000581347.1 - 3 700 c.55C>T c.(55-57)Cgc>Tgc p.R19C RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.R19C A6NKL6 T200C_HUMAN transmembrane protein 200C 19 integral to membrane p.R19S(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 CTTGGGGGGCGGAGTGGATCC 0.607000 8 21 0 0 1 0 0 TRAV12-1 28674 broad.mit.edu 37 14 22309897 22309897 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:22309897C>T ENST00000390433.1 + 0 281 CAGTATATTTCCCTGCTCATC 0.493000 34 100 0 0 1 0 0 ZBTB4 57659 broad.mit.edu 37 17 7365689 7365689 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:7365689G>A ENST00000311403.4 - 4 2951 c.2612C>T c.(2611-2613)cCt>cTt p.P871L ZBTB4_ENST00000380599.4_Missense_Mutation_p.P871L NM_020899.3 NP_065950.2 Q9P1Z0 ZBTB4_HUMAN zinc finger and BTB domain containing 4 871 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6) 36 Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255) COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642) TTCCTGCACAGGTGGGTATAC 0.632000 8 41 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685224 125685224 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:125685224C>T ENST00000371126.1 - 1 1610 c.1368G>A c.(1366-1368)ggG>ggA p.G456G NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 456 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 CTGCATAGTTCCCATGGAGGC 0.547000 39 32 0 0 1 0 0 CREB3L1 90993 broad.mit.edu 37 11 46321636 46321636 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:46321636G>A ENST00000529193.1 + 2 704 c.253G>A c.(253-255)Gag>Aag p.E85K CREB3L1_ENST00000288400.3_Missense_Mutation_p.E85K Q96BA8 CR3L1_HUMAN cAMP responsive element binding protein 3-like 1 85 response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L1(6) NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3) 12 GBM - Glioblastoma multiforme(35;0.0285) CATCCAGGCGGAGCACAGCTA 0.587000 T FUS myxofibrosarcoma 9 10 0 0 1 0 0 PROKR2 128674 broad.mit.edu 37 20 5294948 5294948 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:5294948G>A ENST00000546004.1 - 2 314 c.68C>T c.(67-69)tCc>tTc p.S23F PROKR2_ENST00000217270.3_Missense_Mutation_p.S23F Q8NFJ6 PKR2_HUMAN prokineticin receptor 2 23 integral to membrane|plasma membrane neuropeptide Y receptor activity p.S23F(1) autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 53 AAAGGAGAGGGAGGAGGCATG 0.498000 HNSCC(71;0.22) 56 63 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74327700 74327700 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:74327700C>T ENST00000409262.3 + 9 3380 c.3380C>T c.(3379-3381)tCc>tTc p.S1127F NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 1127 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCCTACCACTCCTACTATGCA 0.577000 6 10 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80040926 80040926 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:80040926G>A ENST00000306749.2 - 33 5849 c.5631C>T c.(5629-5631)tcC>tcT p.S1877S FASN_ENST00000579758.1_5'UTR NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 1877 Beta-ketoacyl reductase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) AGAAGGTCTTGGAGATGGCCG 0.642000 32 36 0 0 1 0 0 MYOC 4653 broad.mit.edu 37 1 171605745 171605745 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:171605745G>A ENST00000037502.5 - 3 894 c.835C>T c.(835-837)Ccc>Tcc p.P279S NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 279 Olfactomedin-like. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGGGTGTAGGGGTAGGTGGGC 0.537000 23 47 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501943 140501943 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140501943G>A ENST00000194152.1 + 1 363 c.363G>A c.(361-363)ttG>ttA p.L121L NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 121 Cadherin 1. 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) GAGAATTATTGATCCAGGACA 0.428000 24 45 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21063026 21063026 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:21063026C>T ENST00000261383.3 - 29 4202 c.4203G>A c.(4201-4203)cgG>cgA p.R1401R DNAH3_ENST00000415178.1_Silent_p.R1401R NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1401 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGATCACCAGCCGGGGGGAGT 0.572000 23 104 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855405 79855405 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:79855405C>T ENST00000338682.3 - 5 1106 c.434G>A c.(433-435)gGg>gAg p.G145E NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 145 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) GACCTCTTTCCCTTTTGCCTT 0.403000 45 91 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55534024 55534024 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:55534024G>A ENST00000220676.1 + 2 646 c.498G>A c.(496-498)acG>acA p.T166T NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 166 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACCCGAAGACGAGGCGTGCGG 0.647000 28 84 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186277347 186277347 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:186277347G>A ENST00000367484.3 + 7 1134 c.e7-1 PRG4_ENST00000445192.2_Silent_p.K832K|PRG4_ENST00000367486.3_Silent_p.K789K|PRG4_ENST00000367485.4_Silent_p.K739K|PRG4_ENST00000367483.4_Silent_p.K791K Q92954 PRG4_HUMAN proteoglycan 4 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.K832K(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CTACCCCCAAGGAGCCTGCAC 0.582000 55 141 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207437870 207437870 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:207437870C>T ENST00000264377.3 + 18 2016 c.1688C>T c.(1687-1689)gCt>gTt p.A563V ADAM23_ENST00000374415.3_Missense_Mutation_p.A563V|ADAM23_ENST00000374416.1_Missense_Mutation_p.A563V NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 563 Disintegrin.|May bind the integrin receptor. cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TGCCGGGATGCTGTGAACGAG 0.363000 67 54 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439634 145439634 + Silent SNP G G A rs149337508 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:145439634G>A ENST00000511217.1 + 8 1813 c.1761G>A c.(1759-1761)agG>agA p.R587R SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Silent_p.R587R Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 587 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCATCAGCAGGGGCAGTGAGG 0.642000 14 36 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3678767 3678767 + Silent SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:3678767T>C ENST00000344754.4 - 8 1799 c.1800A>G c.(1798-1800)caA>caG p.Q600Q SIGLEC1_ENST00000202578.4_Silent_p.Q600Q NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 600 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 TGAATGTTGGTTGTCGAGGGG 0.652000 4 11 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154513649 154513649 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:154513649A>T ENST00000409959.3 + 18 1884 c.1835A>T c.(1834-1836)aAc>aTc p.N612I KIAA0922_ENST00000440693.1_Intron|KIAA0922_ENST00000409663.3_Missense_Mutation_p.N611I NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 611 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GTGGTGCAGAACCCGTCCTCT 0.507000 17 37 0 0 1 0 0 KCNK2 3776 broad.mit.edu 37 1 215259976 215259976 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:215259976C>T ENST00000444842.2 + 2 462 c.312C>T c.(310-312)tcC>tcT p.S104S KCNK2_ENST00000391895.2_Silent_p.S100S|KCNK2_ENST00000391894.2_Silent_p.S89S NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 104 outward rectifier potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CATTCATATCCCAACATTCCT 0.458000 24 89 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476846 120476846 + Missense_Mutation SNP G G A rs55751501 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:120476846G>A ENST00000355622.6 + 3 2541 c.2440G>A c.(2440-2442)Gcc>Acc p.A814T TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.A774T NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 814 TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity p.A814T(1) breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 ACTCAGAAAAGCCCTGCTGGA 0.512000 39 101 0 0 1 0 0 MAGI2 9863 broad.mit.edu 37 7 77973101 77973101 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:77973101C>T ENST00000354212.4 - 9 1655 c.1402G>A c.(1402-1404)Gaa>Aaa p.E468K MAGI2_ENST00000536571.1_Missense_Mutation_p.E300K|MAGI2_ENST00000535697.1_Missense_Mutation_p.E305K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E468K|MAGI2_ENST00000522391.1_Missense_Mutation_p.E468K NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 468 PDZ 2. cell junction|synapse|synaptosome phosphatase binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3) 84 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TTACCTGTTTCCATTTTTCCA 0.408000 23 51 0 0 1 0 0 ARSJ 79642 broad.mit.edu 37 4 114823624 114823624 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:114823624G>A ENST00000315366.7 - 2 2472 c.1606C>T c.(1606-1608)Ccc>Tcc p.P536S ARSJ_ENST00000541197.1_Missense_Mutation_p.P536S NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 536 extracellular region arylsulfatase activity|metal ion binding endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) TCTTTGGGGGGATACCTGACC 0.498000 18 33 0 0 1 0 0 OR2J2 26707 broad.mit.edu 37 6 29141683 29141683 + Nonsense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:29141683A>T ENST00000377167.2 + 1 373 c.271A>T c.(271-273)Aag>Tag p.K91* NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 GGGCCCGGAAAAGACCATCTC 0.473000 43 136 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61926588 61926588 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:61926588C>T ENST00000280772.1 - 22 2736 c.2545G>A c.(2545-2547)Gat>Aat p.D849N ANK3_ENST00000503366.1_Missense_Mutation_p.D832N|ANK3_ENST00000373827.2_Missense_Mutation_p.D843N|ANK3_ENST00000460468.1_Missense_Mutation_p.D16N NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 849 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 ATACCTTCATCATCAGACATA 0.333000 10 24 0 0 1 0 0 WDR93 56964 broad.mit.edu 37 15 90246318 90246318 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:90246318C>T ENST00000268130.7 + 3 542 c.441C>T c.(439-441)tcC>tcT p.S147S WDR93_ENST00000558000.1_Silent_p.S147S|WDR93_ENST00000560294.1_Silent_p.S147S NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 147 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) ATGTCACTTCCATCTGGGCCA 0.393000 37 85 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153065807 153065807 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:153065807G>A ENST00000285900.5 + 8 1395 c.1052G>A c.(1051-1053)gGa>gAa p.G351E GRIA1_ENST00000521843.2_Missense_Mutation_p.G282E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G271E|GRIA1_ENST00000340592.5_Missense_Mutation_p.G351E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G361E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G361E NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 351 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) GGTTTAACAGGAAACGTGCAG 0.443000 27 48 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162325117 162325117 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:162325117G>A ENST00000361897.5 + 7 1138 c.736G>A c.(736-738)Gaa>Aaa p.E246K NOS1AP_ENST00000530878.1_Missense_Mutation_p.E241K NM_001164757.1|NM_014697.2 NP_001158229.1|NP_055512.1 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 246 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) TGTAGGGAAGGAAGGAGGCTC 0.557000 19 70 0 0 1 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141785 133141785 + Missense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:133141785G>T ENST00000388996.4 - 15 2763 c.2343C>A c.(2341-2343)agC>agA p.S781R KCNQ3_ENST00000521134.1_Missense_Mutation_p.S661R|KCNQ3_ENST00000519445.1_Missense_Mutation_p.S769R NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 781 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CTCGCGTGATGCTACGTCTCT 0.602000 10 33 1.36491e-13 1.38783e-13 1 1 0 AGRN 375790 broad.mit.edu 37 1 978980 978980 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:978980C>T ENST00000379370.2 + 9 1716 c.1666C>T c.(1666-1668)Ccc>Tcc p.P556S NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 556 Kazal-like 6. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CTGCGTGTGCCCCTCTGAATG 0.677000 17 46 0 0 1 0 0 TRAV20 28663 broad.mit.edu 37 14 22508843 22508843 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:22508843G>A ENST00000390448.3 + 0 4 CTAAGATACAGAAGTGGCGCC 0.388000 15 20 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169572730 169572730 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:169572730C>T ENST00000316428.5 - 6 919 c.862G>A c.(862-864)Gat>Aat p.D288N LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.D288N|LRRC31_ENST00000264676.5_Missense_Mutation_p.D232N NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 288 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) CAGGAAAGATCTAATTTCCTC 0.458000 20 44 0 0 1 0 0 PHF14 9678 broad.mit.edu 37 7 11101606 11101606 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:11101606G>A ENST00000403050.3 + 16 3000 c.2548G>A c.(2548-2550)Gag>Aag p.E850K PHF14_ENST00000445996.2_Missense_Mutation_p.E565K NM_014660.3 NP_055475.2 O94880 PHF14_HUMAN PHD finger protein 14 850 zinc ion binding NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 35 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) AGTTCCTAGAGAGAGAAGACA 0.353000 6 7 0 0 1 0 0 PLK2 10769 broad.mit.edu 37 5 57750513 57750513 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:57750513G>A ENST00000274289.3 - 14 2255 c.1955C>T c.(1954-1956)tCt>tTt p.S652F PLK2_ENST00000502671.1_Intron NM_001252226.1|NM_006622.3 NP_001239155.1|NP_006613.2 Q9NYY3 PLK2_HUMAN polo-like kinase 2 652 POLO box 2. positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2) 26 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) GAAAGTTGTAGATATCCTATC 0.353000 21 44 0 0 1 0 0 SMC5 23137 broad.mit.edu 37 9 72967180 72967180 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:72967180C>T ENST00000361138.5 + 25 3297 c.3239C>T c.(3238-3240)cCa>cTa p.P1080L NM_015110.3 NP_055925.2 Q8IY18 SMC5_HUMAN structural maintenance of chromosomes 5 1080 DNA recombination|DNA repair chromosome|nucleus ATP binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4) 35 ATGCTGGAACCAAACACATGG 0.373000 26 74 0 0 1 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869564 36869564 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:36869564G>A ENST00000279024.4 - 3 1240 c.969C>T c.(967-969)ctC>ctT p.L323L NM_001029864.1 NP_001025035.1 Q5JYT7 K1755_HUMAN KIAA1755 323 breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1) 54 Myeloproliferative disorder(115;0.00874) TGGCCTCTGAGAGAGGCAGTA 0.507000 116 142 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86948026 86948026 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:86948026G>A ENST00000234701.3 + 6 1047 c.696G>A c.(694-696)acG>acA p.T232T CLCA1_ENST00000394711.1_Silent_p.T232T A8K7I4 CLCA1_HUMAN chloride channel accessory 1 232 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) CCCGCCAGACGGAGAAGGCTT 0.428000 25 60 0 0 1 0 0 DSEL 92126 broad.mit.edu 37 18 65181047 65181047 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:65181047G>A ENST00000310045.7 - 2 2302 c.829C>T c.(829-831)Cat>Tat p.H277Y CTD-2541J13.2_ENST00000583493.1_RNA NM_032160.2 NP_115536.1 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 267 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TCAACAATATGATTCAATAGA 0.413000 25 71 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158813856 158813856 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:158813856C>T ENST00000368141.4 + 4 775 c.514C>T c.(514-516)Cat>Tat p.H172Y NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 172 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AGCTGTGGATCATCCCCCACT 0.493000 28 111 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29259573 29259573 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:29259573G>A ENST00000379558.4 + 18 2936 c.2585G>A c.(2584-2586)gGg>gAg p.G862E FAM179A_ENST00000403861.2_Missense_Mutation_p.G807E|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 862 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AAGAACTCAGGGATTTACGCT 0.572000 12 24 0 0 1 0 0 SIGLEC16 400709 broad.mit.edu 37 19 50473221 50473221 + RNA SNP T T C rs117072442 by1000genomes TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:50473221T>C ENST00000602139.1 + 0 222 sialic acid binding Ig-like lectin 16 (gene/pseudogene) p.W65R(3) endometrium(2)|kidney(2)|lung(6) 10 GTTCAAAGGATGGACCAGCCC 0.602000 4 63 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515442 140515442 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140515442C>T ENST00000231134.5 + 1 643 c.426C>T c.(424-426)atC>atT p.I142I NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 142 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCTAAAAATCCCAGAGAGCA 0.438000 20 64 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26422615 26422615 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:26422615C>T ENST00000335473.7 + 43 6925 c.6675C>T c.(6673-6675)tcC>tcT p.S2225S MYO18B_ENST00000536101.1_Silent_p.S2225S|MYO18B_ENST00000407587.2_Silent_p.S2226S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2225 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 AACCTGCTTCCTCTCCCCTGG 0.567000 9 28 0 0 1 0 0 MIER1 57708 broad.mit.edu 37 1 67424654 67424654 + Missense_Mutation SNP T T G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:67424654T>G ENST00000357692.2 + 7 771 c.514T>G c.(514-516)Tat>Gat p.Y172D MIER1_ENST00000355356.3_Missense_Mutation_p.Y155D|MIER1_ENST00000355977.6_Missense_Mutation_p.Y92D|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000371018.3_Missense_Mutation_p.Y172D|MIER1_ENST00000401041.1_Missense_Mutation_p.Y208D|MIER1_ENST00000371016.1_Missense_Mutation_p.Y172D|MIER1_ENST00000401042.3_Missense_Mutation_p.Y155D|MIER1_ENST00000371014.1_Missense_Mutation_p.Y208D NM_001146110.1 NP_001139582.1 Q8N108 MIER1_HUMAN mesoderm induction early response 1, transcriptional regulator 179 Glu-rich. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3) 15 TCGATGTAAATATTTTGATAC 0.338000 8 22 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26446099 26446099 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:26446099C>T ENST00000244519.2 + 5 844 c.601C>T c.(601-603)Ctg>Ttg p.L201L BTN3A3_ENST00000361232.3_Silent_p.L159L|BTN3A3_ENST00000339789.4_Silent_p.L159L NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 201 Ig-like V-type 2. integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 TGGAGTGGGCCTGTATGCAGT 0.562000 26 102 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156222867 156222867 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:156222867G>A ENST00000361813.5 - 18 2649 c.2505C>T c.(2503-2505)ctC>ctT p.L835L SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 835 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) GAGACACTTCGAGCTGGTGAG 0.662000 9 24 0 0 1 0 0 CDK5R2 8941 broad.mit.edu 37 2 219824873 219824873 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:219824873C>T ENST00000302625.4 + 1 497 c.331C>T c.(331-333)Ccc>Tcc p.P111S AC097468.7_ENST00000429343.1_RNA NM_003936.4 NP_003927.1 Q13319 CD5R2_HUMAN cyclin-dependent kinase 5, regulatory subunit 2 (p39) 111 regulation of cyclin-dependent protein kinase activity cyclin-dependent protein kinase 5 holoenzyme complex cyclin-dependent protein kinase 5 activator activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1) 8 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GGGCCGGGATCCCCCCGACGG 0.746000 4 1 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 140992397 140992397 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:140992397G>A ENST00000389484.3 - 90 14588 c.13617C>T c.(13615-13617)ccC>ccT p.P4539P NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4539 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) ttaggtagatgggcggcgctg 0.423000 TSP Lung(27;0.18) 19 47 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197073314 197073314 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:197073314A>G ENST00000367409.4 - 18 5323 c.5067T>C c.(5065-5067)gtT>gtC p.V1689V ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1689 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GTTTCATCTTAACAGTTGACT 0.313000 7 27 0 0 1 0 0 SLC25A47 283600 broad.mit.edu 37 14 100795245 100795245 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:100795245C>T ENST00000361529.3 + 5 588 c.510C>T c.(508-510)gcC>gcT p.A170A SLC25A47_ENST00000557052.1_Silent_p.A24A NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 170 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 CCACGGTAGCCCGTGAGGAGG 0.687000 13 38 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47990575 47990575 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:47990575C>T ENST00000371741.4 - 2 1688 c.1522G>A c.(1522-1524)Gaa>Aaa p.E508K NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 508 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GATCCCTGTTCCTTGGTTTCA 0.443000 102 151 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 103984745 103984745 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:103984745G>A ENST00000388887.2 + 2 356 c.152G>A c.(151-153)gGa>gAa p.G51E NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 51 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 CTCAACCTTGGAGTCAAGTGC 0.423000 22 58 0 0 1 0 0 PARP14 54625 broad.mit.edu 37 3 122414425 122414425 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:122414425C>T ENST00000474629.2 + 5 1017 c.751C>T c.(751-753)Ccc>Tcc p.P251S NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) CTTTGAAAATCCCTATAATGG 0.378000 4 14 0 0 1 0 0 TMIGD1 388364 broad.mit.edu 37 17 28652039 28652039 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:28652039C>T ENST00000328886.4 - 4 507 c.435G>A c.(433-435)gtG>gtA p.V145V TMIGD1_ENST00000538566.2_Silent_p.V145V NM_206832.1 NP_996663.1 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain containing 1 145 Ig-like C2-type 2. integral to membrane breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 12 GGTTGGCTTTCACATTGCAAA 0.428000 31 94 0 0 1 0 0 USP43 124739 broad.mit.edu 37 17 9615433 9615433 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:9615433C>T ENST00000570827.2 + 14 2460 c.1386C>T c.(1384-1386)ctC>ctT p.L462L USP43_ENST00000285199.6_Silent_p.L773L|USP43_ENST00000570475.1_Silent_p.L768L Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 773 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 CCAACAGCCTCTGCAATCAGG 0.522000 15 24 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207946 140207946 + Silent SNP C C T rs140846988 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140207946C>T ENST00000529310.1 + 1 384 c.270C>T c.(268-270)atC>atT p.I90I PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.I90I NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTCTCGGATCGACCGCGAGG 0.602000 57 161 0 0 1 0 0 NLN 57486 broad.mit.edu 37 5 65081632 65081632 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:65081632C>T ENST00000380985.5 + 7 1031 c.853C>T c.(853-855)Cca>Tca p.P285S NLN_ENST00000502464.1_Missense_Mutation_p.P181S NM_020726.4 NP_065777.1 Q9BYT8 NEUL_HUMAN neurolysin (metallopeptidase M3 family) 285 proteolysis mitochondrial intermembrane space metal ion binding|metalloendopeptidase activity central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616) GCAGCTACTCCCACTGCGAAC 0.413000 12 28 0 0 1 0 0 ACSBG2 81616 broad.mit.edu 37 19 6147677 6147677 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:6147677C>T ENST00000588304.1 + 3 584 c.138C>T c.(136-138)tcC>tcT p.S46S ACSBG2_ENST00000586696.1_Silent_p.S96S|ACSBG2_ENST00000591403.1_Silent_p.S96S|ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Silent_p.S96S Q5FVE4 ACBG2_HUMAN acyl-CoA synthetase bubblegum family member 2 96 cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis membrane|microsome|mitochondrion acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CTGCAAAATCCTTGATCAAGG 0.393000 23 54 0 0 1 0 0 GPR35 2859 broad.mit.edu 37 2 241570152 241570152 + Silent SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:241570152C>A ENST00000319838.5 + 6 1725 c.783C>A c.(781-783)acC>acA p.T261T GPR35_ENST00000403859.1_Silent_p.T261T|GPR35_ENST00000438013.2_Silent_p.T292T|GPR35_ENST00000430267.1_Silent_p.T261T|GPR35_ENST00000407714.1_Silent_p.T261T NM_001195381.1 NP_001182310.1 Q9HC97 GPR35_HUMAN G protein-coupled receptor 35 261 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) TGTACATAACCAGCAAGCTCT 0.632000 4 105 1 1 1 1 0 NDUFA13 51079 broad.mit.edu 37 19 19627027 19627027 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:19627027G>A ENST00000252576.5 + 1 229 c.229G>A c.(229-231)Gaa>Aaa p.E77K NDUFA13_ENST00000507754.3_5'UTR NM_015965.6 NP_057049.5 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1) 12 CCCGGGACCGGAAGTGTGGGA 0.622000 23 35 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130921619 130921619 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:130921619G>A ENST00000261655.4 - 10 1986 c.1823C>T c.(1822-1824)cCc>cTc p.P608L RIMBP2_ENST00000536002.1_Missense_Mutation_p.P516L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P516L NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 608 Pro-rich. 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) TTTGGTTTCGGGGACTCCAGA 0.642000 7 19 0 0 1 0 0 CENPE 1062 broad.mit.edu 37 4 104067193 104067193 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:104067193G>A ENST00000265148.3 - 30 4295 c.4206C>T c.(4204-4206)atC>atT p.I1402I CENPE_ENST00000380026.3_Silent_p.I1377I NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1402 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCTCACTCACGATTTTGGTAG 0.358000 24 61 0 0 1 0 0 EYA3 2140 broad.mit.edu 37 1 28343697 28343697 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:28343697G>A ENST00000373871.3 - 8 793 c.553C>T c.(553-555)Cca>Tca p.P185S EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Missense_Mutation_p.P139S|EYA3_ENST00000373864.1_Missense_Mutation_p.P29S|EYA3_ENST00000545175.1_Missense_Mutation_p.P132S|EYA3_ENST00000540618.1_Missense_Mutation_p.P139S|EYA3_ENST00000436342.2_Missense_Mutation_p.P59S Q99504 EYA3_HUMAN eyes absent homolog 3 (Drosophila) 185 anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception cytoplasm metal ion binding|protein binding|protein tyrosine phosphatase activity breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642) GCTGCTGCTGGAATATTGGCA 0.398000 36 76 0 0 1 0 0 STC2 8614 broad.mit.edu 37 5 172750341 172750341 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:172750341C>T ENST00000265087.4 - 3 1696 c.387G>A c.(385-387)agG>agA p.R129R STC2_ENST00000520593.1_5'UTR NM_003714.2 NP_003705.1 O76061 STC2_HUMAN stanniocalcin 2 129 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3) 25 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ACACCATTTCCCTGATGGCCG 0.572000 14 16 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20249241 20249241 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:20249241G>A ENST00000315957.4 + 1 841 c.760G>A c.(760-762)Ggg>Agg p.G254R NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GCTAATGTTTGGGCCATCCAT 0.438000 28 253 0 0 1 0 0 MRGPRF 116535 broad.mit.edu 37 11 68772911 68772911 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:68772911G>A ENST00000309099.6 - 3 1249 c.867C>T c.(865-867)atC>atT p.I289I MRGPRF_ENST00000441623.1_Silent_p.I289I NM_145015.4 NP_659452.3 Q96AM1 MRGRF_HUMAN MAS-related GPR, member F 289 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|lung(4) 7 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGAAGTAGACGATGGGCTTGG 0.662000 4 7 0 0 1 0 0 KIAA0368 23392 broad.mit.edu 37 9 114135609 114135609 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:114135609C>T ENST00000259335.4 - 41 4788 c.4789G>A c.(4789-4791)Ggc>Agc p.G1597S KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.G1419S NM_001080398.1 NP_001073867.1 KIAA0368 NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 ACTAAATGGCCCATAGCAAAT 0.358000 30 85 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 952241 952241 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:952241G>A ENST00000264771.4 + 11 1657 c.1472G>A c.(1471-1473)gGc>gAc p.G491D TMEM175_ENST00000515740.1_Missense_Mutation_p.G375D|TMEM175_ENST00000508204.1_Missense_Mutation_p.G409D NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 491 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GCCCCCACGGGCCAGGACGAC 0.731000 4 6 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124413547 124413547 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:124413547C>T ENST00000306842.2 - 1 28 c.4G>A c.(4-6)Gca>Aca p.A2T NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 2 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TTTTTGGCTGCCATTCTTTTT 0.493000 21 28 0 0 1 0 0 MYPOP 339344 broad.mit.edu 37 19 46393886 46393886 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:46393886G>A ENST00000322217.5 - 3 1281 c.1195C>T c.(1195-1197)Ccg>Tcg p.P399S NM_001012643.2 NP_001012661.1 Q86VE0 MYPOP_HUMAN Myb-related transcription factor, partner of profilin 399 nucleus DNA binding large_intestine(2)|lung(1)|skin(1) 4 AGATTTCACGGAGATTTCCAT 0.642000 16 33 0 0 1 0 0 UBE3A 7337 broad.mit.edu 37 15 25601062 25601062 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:25601062G>A ENST00000232165.3 - 9 2757 c.2101C>T c.(2101-2103)Cca>Tca p.P701S UBE3A_ENST00000566215.1_Missense_Mutation_p.P681S|UBE3A_ENST00000438097.1_Missense_Mutation_p.P681S|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000397954.2_Missense_Mutation_p.P704S|UBE3A_ENST00000428984.2_Missense_Mutation_p.P681S NM_000462.3|NM_130839.2 NP_000453.2|NP_570854.1 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A 704 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 38 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) TTTGTAATTGGAATTTTATCA 0.299000 21 41 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2885114 2885114 + Missense_Mutation SNP G G A rs147386217 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:2885114G>A ENST00000254528.3 + 3 569 c.410G>A c.(409-411)cGa>cAa p.R137Q NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 137 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) GCTCGGCCTCGAAACAGCTTG 0.512000 22 54 0 0 1 0 0 TRAV10 28676 broad.mit.edu 37 14 22294115 22294115 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:22294115C>T ENST00000390432.2 + 0 255 TCATGACTTTCAGTGAGAACA 0.468000 29 58 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9202503 9202503 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:9202503A>G ENST00000328194.3 - 6 1586 c.1266T>C c.(1264-1266)ccT>ccC p.P422P DENND5A_ENST00000530044.1_Silent_p.P422P NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 422 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GATTCCCTTCAGGGGGAATTC 0.517000 23 73 0 0 1 0 0 SPATA16 83893 broad.mit.edu 37 3 172835398 172835398 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:172835398C>T ENST00000351008.3 - 2 307 c.124G>A c.(124-126)Gaa>Aaa p.E42K NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 42 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 43 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) TGTGACATTTCCAGGATGTTA 0.378000 68 160 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29385344 29385344 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:29385344C>T ENST00000558402.1 + 8 1735 c.1136C>T c.(1135-1137)tCc>tTc p.S379F APBA2_ENST00000561069.1_Missense_Mutation_p.S379F|APBA2_ENST00000558259.1_Missense_Mutation_p.S379F|APBA2_ENST00000558330.1_Missense_Mutation_p.S379F|APBA2_ENST00000411764.1_Missense_Mutation_p.S379F Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 379 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) TACCTGGGGTCCACCCAGCTG 0.567000 25 59 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123187247 123187247 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:123187247A>G ENST00000328880.5 - 1 643 c.584T>C c.(583-585)cTg>cCg p.L195P RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 195 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) GAAGAACTCCAGGAGGAACAT 0.537000 26 62 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142561409 142561409 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142561409G>A ENST00000392957.2 + 6 908 c.121G>A c.(121-123)Gga>Aga p.G41R EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.G41R NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 41 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) GGACACCACCGGAGAGACATC 0.597000 9 64 0 0 1 0 0 REC8 9985 broad.mit.edu 37 14 24647306 24647306 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:24647306C>T ENST00000311457.3 + 13 1470 c.871C>T c.(871-873)Cca>Tca p.P291S REC8_ENST00000559919.1_Missense_Mutation_p.P291S O95072 REC8_HUMAN REC8 meiotic recombination protein 292 Glu-rich.|Pro-rich. mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(265;0.00839) GAGGAGGCCCCCAGTCCCCCC 0.612000 14 43 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152737871 152737871 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:152737871C>T ENST00000367255.5 - 41 6302 c.5701G>A c.(5701-5703)Gag>Aag p.E1901K SYNE1_ENST00000341594.5_Missense_Mutation_p.E1938K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1908K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1901K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1908K NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1901 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAATCAGACTCGTTCTTATTC 0.473000 HNSCC(10;0.0054) 11 32 0 0 1 0 0 GRM7 2917 broad.mit.edu 37 3 7620525 7620525 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:7620525C>T ENST00000486284.1 + 8 2206 c.1932C>T c.(1930-1932)ttC>ttT p.F644F GRM7_ENST00000403881.1_Silent_p.F644F|GRM7_ENST00000357716.4_Silent_p.F644F|GRM7_ENST00000402647.2_Silent_p.F644F|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000389336.4_Silent_p.F644F NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 644 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) TCATCACTTTCCTGATGATTG 0.488000 31 82 0 0 1 0 0 LRRC8D 55144 broad.mit.edu 37 1 90401139 90401139 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:90401139C>T ENST00000337338.5 + 3 2919 c.2512C>T c.(2512-2514)Ctg>Ttg p.L838L LRRC8D_ENST00000394593.3_Silent_p.L838L NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 838 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) TTTTGATACCCTGCCACTCGA 0.473000 24 57 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 97956719 97956719 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:97956719C>T ENST00000224337.5 - 16 1337 c.1196G>A c.(1195-1197)cGa>cAa p.R399Q BLNK_ENST00000371176.2_Missense_Mutation_p.R376Q|BLNK_ENST00000413476.2_Intron|BLNK_ENST00000427367.2_Intron NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 399 SH2. B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) TTCAATAAATCGCACAGGAAT 0.333000 13 31 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25821477 25821477 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:25821477G>A ENST00000399878.3 - 8 1498 c.1376C>T c.(1375-1377)tCt>tTt p.S459F SEL1L3_ENST00000502949.1_Missense_Mutation_p.S306F|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S424F NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 459 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 TGCATACACAGATACTATTTC 0.418000 5 16 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90024571 90024571 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:90024571G>A ENST00000405460.2 + 49 10343 c.10247G>A c.(10246-10248)gGa>gAa p.G3416E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3416 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTCAACAAGGGAGGCTCTGTG 0.488000 67 86 0 0 1 0 0 ZMAT4 79698 broad.mit.edu 37 8 40554769 40554769 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:40554769G>A ENST00000297737.6 - 4 490 c.344C>T c.(343-345)aCc>aTc p.T115I ZMAT4_ENST00000315769.7_Missense_Mutation_p.T115I NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 115 nucleus DNA binding|zinc ion binding p.T115I(1) NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) CGTACCTGTGGTCTTTAATGG 0.507000 30 95 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23521133 23521133 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:23521133G>A ENST00000296682.3 + 6 535 c.351_splice c.e6-1 p.G118_splice NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 118 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ACATTAAAGGGAATGCCCAAG 0.373000 HNSCC(3;0.000094) 17 15 0 0 1 0 0 KRT24 192666 broad.mit.edu 37 17 38855823 38855823 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:38855823C>T ENST00000264651.2 - 6 1290 c.1234G>A c.(1234-1236)Gag>Aag p.E412K NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 412 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) CAGATCTCCTCCTCCAGGGCA 0.527000 43 83 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155764464 155764464 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:155764464G>A ENST00000159060.2 - 5 531 c.429C>T c.(427-429)tcC>tcT p.S143S NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 143 Ferric oxidoreductase. electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) TGCCCAGCTTGGAAAGTGCGG 0.572000 13 43 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4870027 4870027 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:4870027G>A ENST00000322101.2 - 1 487 c.412C>T c.(412-414)Ctc>Ttc p.L138F MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 138 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGTAGTGGAGAGGTCGGCAG 0.522000 35 99 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7034516 7034516 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:7034516G>A ENST00000389658.3 - 14 2106 c.2013C>T c.(2011-2013)atC>atT p.I671I NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 671 Laminin IV type A 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTTGGCTCTGATCAAAAGAT 0.383000 10 32 0 0 1 0 0 ANKRD35 148741 broad.mit.edu 37 1 145561831 145561831 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:145561831G>A ENST00000355594.4 + 10 1606 c.1519G>A c.(1519-1521)Gat>Aat p.D507N NM_144698.3 NP_653299.3 Q8N283 ANR35_HUMAN ankyrin repeat domain 35 507 NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1) 47 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCGAGAAAAGGATGCTGCCCG 0.622000 41 115 0 0 1 0 0 TAOK3 51347 broad.mit.edu 37 12 118639110 118639110 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:118639110C>T ENST00000392533.3 - 12 1468 c.978G>A c.(976-978)gaG>gaA p.E326E TAOK3_ENST00000419821.2_Silent_p.E326E NM_016281.3 NP_057365.3 Q9H2K8 TAOK3_HUMAN TAO kinase 3 326 MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation mitochondrion|plasma membrane ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity central_nervous_system(1)|lung(5)|skin(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTTCCTCATCCTCCTGTGACT 0.378000 19 36 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156882111 156882111 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:156882111C>T ENST00000338302.3 + 17 2249 c.2024C>T c.(2023-2025)cCc>cTc p.P675L PEAR1_ENST00000292357.7_Missense_Mutation_p.P675L Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 675 EGF-like 9. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) ACCTGCCATCCCCAGGATGGG 0.597000 11 26 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79027218 79027218 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:79027218C>T ENST00000446378.2 + 2 2661 c.2630C>T c.(2629-2631)tCt>tTt p.S877F NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 877 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) GCCACCCCATCTGAATATGTT 0.473000 16 30 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26463421 26463421 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:26463421G>A ENST00000265944.5 + 30 4394 c.4228G>A c.(4228-4230)Gat>Aat p.D1410N MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1410 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CAAGAAGAAGGATAACAAAGA 0.323000 27 54 0 0 1 0 0 HEXA 3073 broad.mit.edu 37 15 72643491 72643491 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:72643491G>A ENST00000268097.5 - 6 1158 c.655C>T c.(655-657)Cca>Tca p.P219S HEXA_ENST00000567159.1_Missense_Mutation_p.P219S|HEXA_ENST00000429918.2_Missense_Mutation_p.P46S|HEXA_ENST00000457859.2_Missense_Mutation_p.P27S|RP11-106M3.3_ENST00000570175.1_RNA|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.P230S NM_000520.4 NP_000511.2 P06865 HEXA_HUMAN hexosaminidase A (alpha polypeptide) 219 cell death lysosome beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 24 ATGAGCTCTGGAAAAGTGAAG 0.468000 21 40 0 0 1 0 0 SFTPA2 729238 broad.mit.edu 37 10 81319108 81319108 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:81319108C>T ENST00000372325.2 - 3 216 c.132G>A c.(130-132)agG>agA p.R44R SFTPA2_ENST00000372327.5_Silent_p.R44R NM_001098668.2 NP_001092138.1 Q8IWL1 SFPA2_HUMAN surfactant protein A2 44 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 9 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CTCTCCCGTCCCTGCCTGGCA 0.622000 Pulmonary Fibrosis, Idiopathic 12 103 0 0 1 0 0 PDE4D 5144 broad.mit.edu 37 5 58271584 58271584 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:58271584A>T ENST00000340635.6 - 14 2088 c.1913T>A c.(1912-1914)aTa>aAa p.I638K PDE4D_ENST00000503258.1_Missense_Mutation_p.I508K|PDE4D_ENST00000546160.1_Missense_Mutation_p.I577K|PDE4D_ENST00000405755.2_Missense_Mutation_p.I516K|PDE4D_ENST00000502484.2_Missense_Mutation_p.I577K|PDE4D_ENST00000317118.8_Missense_Mutation_p.I347K|PDE4D_ENST00000507116.1_Missense_Mutation_p.I574K|PDE4D_ENST00000360047.5_Missense_Mutation_p.I502K|PDE4D_ENST00000358923.6_Missense_Mutation_p.I336K NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 638 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) CTCCTCCATTATCCGGTCCGT 0.512000 16 47 0 0 1 0 0 MCHR2 84539 broad.mit.edu 37 6 100368843 100368843 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:100368843C>T ENST00000281806.2 - 6 1310 c.996G>A c.(994-996)atG>atA p.M332I MCHR2_ENST00000445970.1_Missense_Mutation_p.M332I|MCHR2_ENST00000369212.1_Missense_Mutation_p.M332I NM_001040179.1 NP_001035269.1 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 332 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) GAGTGTTTCCCATATTGTTGA 0.408000 22 47 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30722902 30722902 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:30722902C>T ENST00000262518.4 + 11 1714 c.1329C>T c.(1327-1329)tcC>tcT p.S443S SRCAP_ENST00000395059.2_Silent_p.S443S|SRCAP_ENST00000344771.4_Silent_p.S443S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 443 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GTGAGCTTTCCATGGAGGAGC 0.493000 23 69 0 0 1 0 0 RFX1 5989 broad.mit.edu 37 19 14080838 14080838 + Missense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:14080838G>T ENST00000254325.4 - 10 1698 c.1464C>A c.(1462-1464)ttC>ttA p.F488L NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 488 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) GCAGGCCCATGAAGACGGAGC 0.647000 17 35 8.34094e-07 8.43231e-07 1 1 0 ZNF461 92283 broad.mit.edu 37 19 37130221 37130221 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:37130221A>G ENST00000588268.1 - 6 1253 c.1026T>C c.(1024-1026)ttT>ttC p.F342F ZNF461_ENST00000360357.4_Silent_p.F319F|ZNF461_ENST00000540605.2_5'UTR NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 342 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CAGTAAGTTGAAAGCCACGAA 0.408000 6 17 0 0 1 0 0 MPHOSPH10 10199 broad.mit.edu 37 2 71361903 71361903 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:71361903C>T ENST00000244230.2 + 4 1426 c.1074C>T c.(1072-1074)tcC>tcT p.S358S MPHOSPH10_ENST00000498451.2_Silent_p.S358S NM_005791.2 NP_005782.1 O00566 MPP10_HUMAN M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein) 358 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1) 26 AAGTTAAATCCTCCTTTGAAA 0.294000 22 66 0 0 1 0 0 ANXA10 11199 broad.mit.edu 37 4 169099099 169099099 + Missense_Mutation SNP T T G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:169099099T>G ENST00000359299.3 + 8 779 c.593T>G c.(592-594)aTc>aGc p.I198S NM_007193.4 NP_009124.2 Q9UJ72 ANX10_HUMAN annexin A10 198 calcium ion binding|calcium-dependent phospholipid binding endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2) 16 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0325) CTGCAAATGATCCTGTGCAAC 0.473000 18 64 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8375972 8375972 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:8375972T>C ENST00000381196.4 - 36 5168 c.4625A>G c.(4624-4626)aAc>aGc p.N1542S PTPRD_ENST00000537002.1_Missense_Mutation_p.N1132S|PTPRD_ENST00000486161.1_Missense_Mutation_p.N1135S|PTPRD_ENST00000358503.5_Missense_Mutation_p.N1520S|PTPRD_ENST00000397617.3_Missense_Mutation_p.N1135S|PTPRD_ENST00000356435.5_Missense_Mutation_p.N1542S|PTPRD_ENST00000540109.1_Missense_Mutation_p.N1542S|PTPRD_ENST00000355233.5_Missense_Mutation_p.N1136S|PTPRD_ENST00000397611.3_Missense_Mutation_p.N1132S|PTPRD_ENST00000397606.3_Missense_Mutation_p.N1135S|PTPRD_ENST00000360074.4_Missense_Mutation_p.N1529S NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1542 Tyrosine-protein phosphatase 1. 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) ATCGGGAGGGTTACAGGTTTT 0.468000 TSP Lung(15;0.13) 23 43 0 0 1 0 0 OR9A2 135924 broad.mit.edu 37 7 142723761 142723761 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142723761G>A ENST00000350513.2 - 1 521 c.459C>T c.(457-459)atC>atT p.I153I NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) AGATGGGCCAGATTTCAGAAA 0.418000 16 41 0 0 1 0 0 ASTN2 23245 broad.mit.edu 37 9 120053784 120053784 + Missense_Mutation SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:120053784C>A ENST00000313400.4 - 2 551 c.451G>T c.(451-453)Ggc>Tgc p.G151C ASTN2_ENST00000361209.2_Missense_Mutation_p.G151C|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.G151C O75129 ASTN2_HUMAN astrotactin 2 151 integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 GCTGCTGTGCCAGACATCTCT 0.597000 4 45 0.150653 0.150965 1 1 0 MRC2 9902 broad.mit.edu 37 17 60768087 60768087 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:60768087G>A ENST00000303375.5 + 27 4379 c.3977G>A c.(3976-3978)cGg>cAg p.R1326Q MRC2_ENST00000446119.2_Missense_Mutation_p.R192Q NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 1326 C-type lectin 8. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 GGCCAGAGTCGGGGCGCCTGG 0.602000 10 64 0 0 1 0 0 ZNRD1 30834 broad.mit.edu 37 6 30029353 30029353 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:30029353G>A ENST00000332435.5 + 1 323 c.52G>A c.(52-54)Gat>Aat p.D18N ZNRD1_ENST00000376785.2_Missense_Mutation_p.D18N|ZNRD1-AS1_ENST00000437417.1_RNA|ZNRD1_ENST00000463141.1_3'UTR|ZNRD1_ENST00000376782.2_Missense_Mutation_p.D18N|ZNRD1_ENST00000359374.4_Missense_Mutation_p.D18N NM_170783.2 NP_740753.1 Q9P1U0 RPA12_HUMAN zinc ribbon domain containing 1 18 nucleolus DNA-directed RNA polymerase activity|nucleic acid binding|zinc ion binding GTCGGACCTGGATTTCTGTTC 0.537000 19 72 0 0 1 0 0 KCNC2 3747 broad.mit.edu 37 12 75441953 75441953 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:75441953G>A ENST00000549446.1 - 4 2440 c.1760C>T c.(1759-1761)tCt>tTt p.S587F KCNC2_ENST00000550433.1_Missense_Mutation_p.S587F|KCNC2_ENST00000341669.3_Missense_Mutation_p.S587F|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000393288.2_Missense_Mutation_p.S587F|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548513.1_Missense_Mutation_p.S587F|KCNC2_ENST00000298972.1_Missense_Mutation_p.S587F NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 587 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 CCCTCCATCAGAAGCACACGT 0.443000 28 85 0 0 1 0 0 SLC13A3 64849 broad.mit.edu 37 20 45239121 45239121 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:45239121G>A ENST00000279027.4 - 3 523 c.505C>T c.(505-507)Cga>Tga p.R169* SLC13A3_ENST00000495082.1_Nonsense_Mutation_p.R122*|SLC13A3_ENST00000339636.3_Nonsense_Mutation_p.R169*|SLC13A3_ENST00000417157.2_Nonsense_Mutation_p.R122*|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000472148.1_Nonsense_Mutation_p.R122*|SLC13A3_ENST00000413164.2_Nonsense_Mutation_p.R169*|SLC13A3_ENST00000396360.1_Nonsense_Mutation_p.R122*|SLC13A3_ENST00000372121.1_Nonsense_Mutation_p.R169*|SLC13A3_ENST00000290317.5_Nonsense_Mutation_p.R122* NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 169 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) GGGTCCTTTCGAACCTCCTTC 0.542000 129 169 0 0 1 0 0 SPATA22 84690 broad.mit.edu 37 17 3343612 3343612 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:3343612C>T ENST00000573128.1 - 9 1404 c.921G>A c.(919-921)ctG>ctA p.L307L SPATA22_ENST00000397168.3_Silent_p.L307L|SPATA22_ENST00000575375.1_Silent_p.L307L|SPATA22_ENST00000541913.1_Silent_p.L291L|SPATA22_ENST00000355380.4_Silent_p.L264L|SPATA22_ENST00000572969.1_Silent_p.L307L|SPATA22_ENST00000268981.5_3'UTR Q8NHS9 SPT22_HUMAN spermatogenesis associated 22 307 breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2) 19 GGCCTCTAATCAGTCTCGGAA 0.328000 12 38 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90040914 90040914 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:90040914C>T ENST00000405460.2 + 51 10697 c.10601C>T c.(10600-10602)tCg>tTg p.S3534L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3534 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGCTGGAATTCGGAGCGTAAT 0.388000 76 325 0 0 1 0 0 MRPL41 64975 broad.mit.edu 37 9 140446713 140446713 + Silent SNP C C T rs12834 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:140446713C>T ENST00000371443.5 + 2 968 c.180C>T c.(178-180)ttC>ttT p.F60F NM_032477.2 NP_115866.1 Q8IXM3 RM41_HUMAN mitochondrial ribosomal protein L41 60 apoptosis|cell cycle|translation mitochondrial large ribosomal subunit structural constituent of ribosome breast(1)|lung(1) 2 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106) TCCCGGAGTTCGTCGTCCCGG 0.677000 8 26 0 0 1 0 0 PRG3 10394 broad.mit.edu 37 11 57147028 57147028 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:57147028G>A ENST00000287143.2 - 3 423 c.314C>T c.(313-315)cCa>cTa p.P105L NM_006093.3 NP_006084.2 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 105 basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 13 CTTGCACCTTGGACTTCCCTG 0.532000 27 81 0 0 1 0 0 CATSPER2 117155 broad.mit.edu 37 15 43931847 43931847 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:43931847G>A ENST00000396879.1 - 7 823 c.711C>T c.(709-711)gcC>gcT p.A237A STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000381761.1_Silent_p.A243A|CATSPER2_ENST00000355438.2_Silent_p.A237A|CATSPER2_ENST00000321596.5_Silent_p.A237A|CATSPER2_ENST00000354127.4_Silent_p.A237A Q96P56 CTSR2_HUMAN cation channel, sperm associated 2 237 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TCACCTTGAGGGCCCTGACCA 0.478000 56 130 0 0 1 0 0 SLAIN1 122060 broad.mit.edu 37 13 78335034 78335034 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:78335034C>T ENST00000466548.1 + 7 1446 c.1420C>T c.(1420-1422)Ctt>Ttt p.L474F SLAIN1_ENST00000314070.5_Missense_Mutation_p.L97F|SLAIN1_ENST00000418532.1_Missense_Mutation_p.L255F|SLAIN1_ENST00000351546.3_Missense_Mutation_p.L211F|SLAIN1_ENST00000358679.3_Missense_Mutation_p.L211F|SLAIN1_ENST00000267219.8_Missense_Mutation_p.L255F|SLAIN1_ENST00000488699.1_Missense_Mutation_p.L332F NM_001242868.1 NP_001229797.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 474 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) CCGACAGCCTCTTAAAGCCAC 0.498000 31 53 0 0 1 0 0 TSPAN9 10867 broad.mit.edu 37 12 3387672 3387672 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:3387672C>T ENST00000011898.5 + 4 310 c.149C>T c.(148-150)tCg>tTg p.S50L TSPAN9_ENST00000537971.1_Missense_Mutation_p.S50L|TSPAN9_ENST00000407263.1_Missense_Mutation_p.S50L|TSPAN9_ENST00000492305.1_3'UTR NM_006675.4 NP_006666.1 O75954 TSN9_HUMAN tetraspanin 9 50 integral to plasma membrane|membrane fraction endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831) AGCTTCCCTTCGTTGTCTGCA 0.592000 27 82 0 0 1 0 0 MORN1 79906 broad.mit.edu 37 1 2255563 2255563 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:2255563C>T ENST00000378531.3 - 13 1443 c.1270G>A c.(1270-1272)Gag>Aag p.E424K NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 424 breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2) 9 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) GCCTGCTCCTCCGTGGCTCTC 0.677000 3 5 0 0 1 0 0 ZNF404 342908 broad.mit.edu 37 19 44377833 44377833 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:44377833C>T ENST00000587539.1 - 3 532 c.533G>A c.(532-534)cGa>cAa p.R178Q ZNF404_ENST00000324394.6_Missense_Mutation_p.R176Q NM_001033719.2 NP_001028891.2 Q494X3 ZN404_HUMAN zinc finger protein 404 178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) GTGGATTTTTCGATGTCTAAT 0.368000 24 48 0 0 1 0 0 IKBKE 9641 broad.mit.edu 37 1 206651675 206651675 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:206651675C>T ENST00000367120.3 + 9 1358 c.985C>T c.(985-987)Cac>Tac p.H329Y IKBKE_ENST00000462698.1_3'UTR|IKBKE_ENST00000537984.1_Missense_Mutation_p.H244Y NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 329 DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) TATCCATGCCCACAACACGTA 0.562000 42 124 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433255 73433255 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:73433255G>A ENST00000263666.4 - 10 2576 c.2462C>T c.(2461-2463)aCc>aTc p.T821I PDZRN3_ENST00000535920.1_Missense_Mutation_p.T543I|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T478I|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T538I|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T478I NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 821 ubiquitin-protein ligase activity|zinc ion binding p.T821N(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CGGGCTATAGGTAGGGGTGCC 0.657000 20 59 0 0 1 0 0 DNAI2 64446 broad.mit.edu 37 17 72306183 72306183 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:72306183C>T ENST00000579490.1 + 10 1681 c.1546C>T c.(1546-1548)Cgg>Tgg p.R516W DNAI2_ENST00000582036.1_Intron|DNAI2_ENST00000446837.2_Missense_Mutation_p.R459W|DNAI2_ENST00000307504.5_Missense_Mutation_p.R316W|DNAI2_ENST00000311014.6_Missense_Mutation_p.R459W Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 459 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 CTTCTGCCTCCGGGTGCAGGA 0.607000 Kartagener syndrome 21 53 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724953 7724953 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:7724953C>T ENST00000303635.7 + 9 2553 c.2346C>T c.(2344-2346)tcC>tcT p.S782S CAMTA1_ENST00000439411.2_Silent_p.S782S NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 782 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.S782S(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) ACTTCATCTCCGTGGAGGGGG 0.637000 T WWTR1 epitheliod hemangioendothelioma 93 178 0 0 1 0 0 PPM1L 151742 broad.mit.edu 37 3 160474333 160474333 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:160474333G>A ENST00000498165.1 + 1 338 c.237G>A c.(235-237)gaG>gaA p.E79E PPM1L_ENST00000497343.1_Silent_p.E79E NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 79 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) ATGTGCTCGAGGCCGAGTTTT 0.582000 12 24 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69348921 69348921 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:69348921C>T ENST00000370598.1 + 3 1175 c.354C>T c.(352-354)ttC>ttT p.F118F NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 118 CUB. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) AGAATGCTTTCGTTTTTCTAC 0.308000 6 18 0 0 1 0 0 MIR519B 574469 broad.mit.edu 37 19 54198488 54198488 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:54198488G>A ENST00000385090.1 + 0 22 NR_030191.1 CCTCTAGAGGGAAGCGCTTTC 0.403000 29 48 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9337893 9337893 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:9337893C>T ENST00000382496.5 - 4 821 c.156G>A c.(154-156)gcG>gcA p.A52A NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 52 Sema. cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CAGCATTCTTCGCTCTGAACT 0.373000 12 38 0 0 1 0 0 SLC44A4 80736 broad.mit.edu 37 6 31838414 31838414 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:31838414G>A ENST00000544672.1 - 11 1071 c.775C>T c.(775-777)Cgt>Tgt p.R259C SLC44A4_ENST00000375562.4_Missense_Mutation_p.R293C|SLC44A4_ENST00000229729.6_Missense_Mutation_p.R335C NM_001178045.1 NP_001171516.1 Q53GD3 CTL4_HUMAN solute carrier family 44, member 4 335 integral to membrane|plasma membrane choline transmembrane transporter activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2) 35 Choline(DB00122) ATGGCAATACGAATCCGCTGC 0.617000 33 111 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588593 140588593 + Missense_Mutation SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140588593A>C ENST00000239450.2 + 1 303 c.114A>C c.(112-114)gaA>gaC p.E38D PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 38 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGATGGAGGAATTGCAGAGCG 0.522000 38 75 0 0 1 0 0 INTS1 26173 broad.mit.edu 37 7 1542573 1542573 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:1542573G>A ENST00000389470.4 - 4 696 c.697C>T c.(697-699)Ccg>Tcg p.P233S INTS1_ENST00000404767.3_Missense_Mutation_p.P105S Q8N201 INT1_HUMAN integrator complex subunit 1 105 snRNA processing integral to membrane|integrator complex|nuclear membrane autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 62 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TTAATCGACGGAGAAATGGCT 0.577000 32 80 0 0 1 0 0 KLK15 55554 broad.mit.edu 37 19 51329169 51329169 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:51329169G>A ENST00000326856.4 - 6 780 c.651C>T c.(649-651)atC>atT p.I217I KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000596931.1_3'UTR|KLK15_ENST00000598239.1_Silent_p.I218I|KLK15_ENST00000416184.1_Silent_p.I133I NM_001277081.1 NP_001264010.1 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 218 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) TGCCCTGCAGGATGCCCCCAC 0.557000 8 30 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77343254 77343254 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:77343254C>T ENST00000451710.3 - 37 6085 c.5848G>A c.(5848-5850)Gga>Aga p.G1950R TRPM6_ENST00000449912.2_Missense_Mutation_p.G1941R|TRPM6_ENST00000376871.3_Missense_Mutation_p.G783R|TRPM6_ENST00000376872.3_Missense_Mutation_p.G901R|TRPM6_ENST00000361255.3_Missense_Mutation_p.G1941R|TRPM6_ENST00000360774.1_Missense_Mutation_p.G1946R Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1946 Alpha-type protein kinase. 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 AACACCATTCCTCTTGATCTA 0.428000 10 28 0 0 1 0 0 OR1B1 347169 broad.mit.edu 37 9 125391605 125391605 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:125391605C>T ENST00000304833.3 - 1 247 c.210G>A c.(208-210)gtG>gtA p.V70V RP11-64P14.7_ENST00000419604.1_RNA|RP11-64P14.7_ENST00000431442.1_RNA NM_001004450.1 NP_001004450.1 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, member 1 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1) 16 CCATGTCTATCACAGAGAGGC 0.542000 17 25 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13941124 13941124 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:13941124G>A ENST00000254323.2 + 13 2419 c.2230G>A c.(2230-2232)Gac>Aac p.D744N ZSWIM4_ENST00000440752.2_Missense_Mutation_p.D578N NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 744 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) ACTGCAGCTGGACACATCGCG 0.627000 14 40 0 0 1 0 0 RUFY2 55680 broad.mit.edu 37 10 70156567 70156567 + Missense_Mutation SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:70156567C>A ENST00000388768.2 - 4 799 c.473G>T c.(472-474)cGt>cTt p.R158L RUFY2_ENST00000454950.2_Missense_Mutation_p.R65L|RUFY2_ENST00000602465.1_Missense_Mutation_p.R123L|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000342616.4_Missense_Mutation_p.R123L|RUFY2_ENST00000399200.2_Intron NM_017987.4 NP_060457.4 Q8WXA3 RUFY2_HUMAN RUN and FYVE domain containing 2 172 RUN. nucleus metal ion binding p.R158H(1) NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2) 20 AATTAAGCAACGTAAGTAATC 0.368000 12 30 0.105934 0.106263 1 1 0 SNRPN 6638 broad.mit.edu 37 15 25223559 25223559 + Missense_Mutation SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:25223559C>A ENST00000444203.2 + 8 1742 c.703C>A c.(703-705)Cct>Act p.P235T SNRPN_ENST00000390687.4_Missense_Mutation_p.P231T|SNRPN_ENST00000554227.2_Missense_Mutation_p.P235T|SNRPN_ENST00000400098.1_Missense_Mutation_p.P231T|SNRPN_ENST00000400097.1_Missense_Mutation_p.P231T|SNRPN_ENST00000577565.1_Missense_Mutation_p.P231T|SNRPN_ENST00000400100.1_Missense_Mutation_p.P231T|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Missense_Mutation_p.P231T P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 231 Repeat-rich region. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) TCCAGGTCCACCTCCCCCAGG 0.463000 Prader-Willi syndrome 42 133 1.03325e-14 1.05114e-14 1 1 0 CYB5A 1528 broad.mit.edu 37 18 71930615 71930615 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:71930615G>A ENST00000340533.4 - 2 367 c.227C>T c.(226-228)tCc>tTc p.S76F CYB5A_ENST00000397914.4_Missense_Mutation_p.S76F|CYB5A_ENST00000299438.9_Missense_Mutation_p.S2F NM_001914.3|NM_148923.3 NP_001905.1|NP_683725.1 P00167 CYB5_HUMAN cytochrome b5 type A (microsomal) 76 Cytochrome b5 heme-binding. electron transport chain|water-soluble vitamin metabolic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane aldo-keto reductase (NADP) activity|cytochrome-c oxidase activity|enzyme binding|heme binding kidney(1)|large_intestine(1)|lung(1)|skin(1) 4 Esophageal squamous(42;0.0749)|Prostate(75;0.157)|Melanoma(33;0.211) Methoxyflurane(DB01028) GAATGTTTTGGACATTTCCCT 0.463000 16 35 0 0 1 0 0 ZNF616 90317 broad.mit.edu 37 19 52619503 52619503 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:52619503G>A ENST00000600228.1 - 4 1175 c.914C>T c.(913-915)tCc>tTc p.S305F ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 305 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) CTGACTAAAGGATTTCCCACA 0.408000 15 42 0 0 1 0 0 INSR 3643 broad.mit.edu 37 19 7267773 7267773 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:7267773G>A ENST00000341500.5 - 2 274 c.235C>T c.(235-237)Ccc>Tcc p.P79S INSR_ENST00000302850.5_Missense_Mutation_p.P79S NM_001079817.1 NP_001073285.1 P06213 INSR_HUMAN insulin receptor 79 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2) 66 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATGAGTTTGGGGAAACTGAGG 0.512000 164 346 0 0 1 0 0 TXK 7294 broad.mit.edu 37 4 48097181 48097181 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:48097181G>A ENST00000264316.4 - 7 645 c.560C>T c.(559-561)tCc>tTc p.S187F TXK_ENST00000510457.1_5'UTR NM_003328.2 NP_003319.2 P42681 TXK_HUMAN TXK tyrosine kinase 187 SH2. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2) 25 CATAAATACGGAAATTGTGTA 0.348000 12 24 0 0 1 0 0 SYNPR 132204 broad.mit.edu 37 3 63542262 63542262 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:63542262G>A ENST00000478300.1 + 4 664 c.253G>A c.(253-255)Gaa>Aaa p.E85K SYNPR_ENST00000479198.1_Missense_Mutation_p.E65K|SYNPR_ENST00000460711.1_Missense_Mutation_p.E76K|SYNPR_ENST00000295894.5_Missense_Mutation_p.E65K|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000465156.1_Missense_Mutation_p.E65K NM_001130003.1 NP_001123475.1 Q8TBG9 SYNPR_HUMAN synaptoporin 65 MARVEL. cell junction|integral to membrane|synaptic vesicle membrane|synaptosome transporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904) CGAGGGAAAGGAACGGCAGAA 0.483000 10 30 0 0 1 0 0 OR51F1 256892 broad.mit.edu 37 11 4790275 4790275 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:4790275G>A ENST00000380383.1 - 1 893 c.894C>T c.(892-894)ccC>ccT p.P298P OR51F1_ENST00000343430.3_Silent_p.P291P|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 291 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) TGTCGATGATGGGGTTGAGCA 0.453000 7 51 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31533873 31533873 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:31533873G>A ENST00000215885.3 - 4 1141 c.889C>T c.(889-891)Cca>Tca p.P297S NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 297 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 GGAGGGGCTGGGCTCCGGGAG 0.657000 33 103 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11556245 11556245 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:11556245G>A ENST00000262442.3 + 14 2589 c.2521G>A c.(2521-2523)Gat>Aat p.D841N DNAH9_ENST00000454412.2_Missense_Mutation_p.D841N NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 841 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTCTCTGGATGATCGGCATGA 0.413000 15 27 0 0 1 0 0 EYA2 2139 broad.mit.edu 37 20 45700845 45700845 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:45700845G>A ENST00000327619.5 + 6 811 c.437G>A c.(436-438)gGa>gAa p.G146E EYA2_ENST00000357410.3_Missense_Mutation_p.G146E|EYA2_ENST00000317304.6_Missense_Mutation_p.G146E NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 146 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) TTCTATCAAGGAGGAAATGGA 0.488000 16 12 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8806976 8806976 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:8806976G>A ENST00000359865.3 + 11 2664 c.2522G>A c.(2521-2523)cGa>cAa p.R841Q SOGA2_ENST00000306329.11_Missense_Mutation_p.R1160Q|SOGA2_ENST00000400050.3_Missense_Mutation_p.R800Q|SOGA2_ENST00000306285.7_Missense_Mutation_p.R156Q|SOGA2_ENST00000517570.1_Missense_Mutation_p.R800Q|SOGA2_ENST00000518815.1_Missense_Mutation_p.R156Q NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 1151 GAGCGTGCCCGACTACGGCTG 0.637000 11 22 0 0 1 0 0 NCDN 23154 broad.mit.edu 37 1 36030881 36030881 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:36030881C>T ENST00000373243.2 + 7 2190 c.1807C>T c.(1807-1809)Cta>Tta p.L603L NCDN_ENST00000373253.3_Silent_p.L586L|NCDN_ENST00000356090.4_Silent_p.L603L NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 603 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CATCCTCTTCCTATCACAGTC 0.632000 OREG0013355 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 113 0 0 1 0 0 HK3 3101 broad.mit.edu 37 5 176316461 176316461 + Missense_Mutation SNP C C T rs143604141 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:176316461C>T ENST00000292432.5 - 8 926 c.835G>A c.(835-837)Gat>Aat p.D279N NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 279 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCCCATCATCGCTGAAGGAG 0.652000 13 41 0 0 1 0 0 UBA5 79876 broad.mit.edu 37 3 132389843 132389843 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:132389843C>T ENST00000356232.4 + 6 1601 c.529C>T c.(529-531)Cta>Tta p.L177L UBA5_ENST00000494238.2_Silent_p.L121L|UBA5_ENST00000264991.4_Silent_p.L121L|UBA5_ENST00000493720.2_Silent_p.L177L|UBA5_ENST00000473651.1_Silent_p.L177L NM_024818.3 NP_079094.1 Q9GZZ9 UBA5_HUMAN ubiquitin-like modifier activating enzyme 5 177 protein ufmylation aggresome|cytoplasm|nucleus ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 ACCTGTTGATCTAGTTCTTAG 0.333000 21 45 0 0 1 0 0 SLC23A3 151295 broad.mit.edu 37 2 220034609 220034609 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:220034609G>A ENST00000455516.2 - 1 145 c.98C>T c.(97-99)aCc>aTc p.T33I SLC23A3_ENST00000409878.3_Missense_Mutation_p.T33I|SLC23A3_ENST00000295738.7_Missense_Mutation_p.T33I|SLC23A3_ENST00000396775.3_5'UTR NM_001144890.1 NP_001138362.1 Q6PIS1 S23A3_HUMAN solute carrier family 23, member 3 33 transmembrane transport integral to membrane protein binding|transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 11 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCAAGAGTGGGTGGAGGGATT 0.622000 62 42 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189597878 189597878 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:189597878G>A ENST00000418709.2 + 11 1403 c.1375G>A c.(1375-1377)Gag>Aag p.E459K TP63_ENST00000440651.2_Intron|TP63_ENST00000437221.1_Missense_Mutation_p.E365K|TP63_ENST00000392463.2_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000456148.1_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000382063.4_Intron NM_001114979.1 NP_001108451.1 Q9H3D4 P63_HUMAN tumor protein p63 0 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) CTTCAGGAATGAGCTTGTGGA 0.448000 HNSCC(45;0.13) 25 41 0 0 1 0 0 NFIL3 4783 broad.mit.edu 37 9 94172135 94172135 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:94172135G>A ENST00000297689.3 - 2 1276 c.882C>T c.(880-882)gtC>gtT p.V294V NM_005384.2 NP_005375.2 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 294 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 16 GGCCCTTGGGGACCTGTTGCT 0.512000 45 113 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228495064 228495064 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:228495064G>A ENST00000570156.2 + 57 15243 c.15169G>A c.(15169-15171)Gtg>Atg p.V5057M OBSCN_ENST00000366707.4_Missense_Mutation_p.V1734M|OBSCN_ENST00000284548.11_Missense_Mutation_p.V4100M|OBSCN_ENST00000422127.1_Missense_Mutation_p.V4100M|OBSCN_ENST00000366709.4_Missense_Mutation_p.V1219M NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4100 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGGGGCCGTGGTGCAATGGCT 0.647000 15 26 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42531195 42531195 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:42531195G>A ENST00000282030.5 + 4 2186 c.1890G>A c.(1888-1890)gcG>gcA p.A630A NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 630 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GCAATTTAGCGAAGTTGGCCC 0.512000 Schinzel-Giedion syndrome 16 42 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61765107 61765107 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:61765107G>A ENST00000423902.2 + 30 6424 c.5945G>A c.(5944-5946)gGg>gAg p.G1982E CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1982 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TCCACCTTTGGGGTTATTTTT 0.388000 8 18 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142178084 142178084 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:142178084G>A ENST00000350721.4 - 43 7455 c.7334C>T c.(7333-7335)cCt>cTt p.P2445L ATR_ENST00000383101.3_Missense_Mutation_p.P2381L NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 2445 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TGTAGGATCAGGGAATGTTCT 0.343000 Other conserved DNA damage response genes 7 21 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79974676 79974676 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:79974676G>A ENST00000306729.7 + 15 1785 c.1687_splice c.e15-1 p.G563_splice ASPSCR1_ENST00000580534.1_Splice_Site_p.G417_splice|ASPSCR1_ENST00000582404.1_3'UTR|ASPSCR1_ENST00000306739.4_Splice_Site_p.G469_splice NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 469 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CTCCCTGCAGGTGTCTACCTG 0.672000 T TFE3 alveolar soft part sarcoma 19 19 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124351299 124351299 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:124351299G>A ENST00000360013.3 + 35 5336 c.5209G>A c.(5209-5211)Ggc>Agc p.G1737S KALRN_ENST00000428018.2_Missense_Mutation_p.G40S|KALRN_ENST00000393496.1_Missense_Mutation_p.G110S|KALRN_ENST00000291478.4_Missense_Mutation_p.G40S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1737 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CGAGAATGGAGGCAAGTCCGA 0.577000 21 58 0 0 1 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149378 142149378 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142149378G>A ENST00000390372.3 - 0 21 CCCAGCAGAGGAGCCCAGGGC 0.592000 12 34 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132081940 132081940 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:132081940C>T ENST00000374786.1 + 3 904 c.425C>T c.(424-426)tCt>tTt p.S142F NTM_ENST00000374791.3_Missense_Mutation_p.S142F|NTM_ENST00000539799.1_Missense_Mutation_p.S142F|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Missense_Mutation_p.S142F|NTM_ENST00000427481.2_Missense_Mutation_p.S133F|NTM_ENST00000425719.2_Missense_Mutation_p.S142F NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 142 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane p.S142F(2) breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 GTAGAGATTTCTTCAGATATC 0.393000 10 42 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62198490 62198490 + Missense_Mutation SNP C C T rs114630740 by1000genomes TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:62198490C>T ENST00000467148.1 - 6 2290 c.2221G>A c.(2221-2223)Gag>Aag p.E741K HELZ2_ENST00000427522.2_Missense_Mutation_p.E172K NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CGGTAGTTCTCGTGGAAGACC 0.672000 19 89 0 0 1 0 0 OR52N5 390075 broad.mit.edu 37 11 5799163 5799163 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:5799163C>T ENST00000317093.2 - 1 734 c.702G>A c.(700-702)gcG>gcA p.A234A TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 234 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A234A(1) endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) AGAGGCTGATCGCTGCCTTGA 0.438000 23 41 0 0 1 0 0 FMO1 2326 broad.mit.edu 37 1 171236837 171236837 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:171236837C>T ENST00000354841.4 + 2 419 c.288C>T c.(286-288)aaC>aaT p.N96N FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Silent_p.N96N|FMO1_ENST00000402921.2_Intron Q01740 FMO1_HUMAN flavin containing monooxygenase 1 96 NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2) 27 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGTATGCAAACCACTTTGACC 0.368000 8 41 0 0 1 0 0 TRAF6 7189 broad.mit.edu 37 11 36511831 36511831 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:36511831G>A ENST00000526995.1 - 7 1372 c.1126C>T c.(1126-1128)Cat>Tat p.H376Y TRAF6_ENST00000348124.5_Missense_Mutation_p.H376Y NM_004620.3 NP_004611.1 Q9Y4K3 TRAF6_HUMAN TNF receptor-associated factor 6, E3 ubiquitin protein ligase 376 MATH. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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 CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1) 27 all_lung(20;0.211) all_hematologic(20;0.107) CCAGGGCTATGAATCACAACA 0.443000 19 61 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85434361 85434361 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:85434361G>A ENST00000393217.2 + 3 287 c.226G>A c.(226-228)Gaa>Aaa p.E76K NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 76 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) TCAGGACCTGGAAGATACTGA 0.313000 18 73 0 0 1 0 0 PPIL2 23759 broad.mit.edu 37 22 22025287 22025287 + Splice_Site SNP C C G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:22025287C>G ENST00000406385.1 + 4 190 c.128_splice c.e4-1 p.L44_splice PPIL2_ENST00000456792.2_Intron|PPIL2_ENST00000492445.2_Splice_Site_p.L44_splice|PPIL2_ENST00000335025.7_Splice_Site_p.L44_splice|PPIL2_ENST00000412327.1_Splice_Site_p.L44_splice|PPIL2_ENST00000398831.3_Splice_Site_p.L44_splice Q13356 PPIL2_HUMAN peptidylprolyl isomerase (cyclophilin)-like 2 44 U-box. blood coagulation|leukocyte migration|protein folding|protein polyubiquitination Golgi lumen|nucleus|ubiquitin ligase complex peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 17 Colorectal(54;0.105) CTTTTTCAGTCTCTCTCTGCA 0.502000 25 103 0 0 1 0 0 ADH7 131 broad.mit.edu 37 4 100349017 100349017 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:100349017C>T ENST00000437033.2 - 5 980 c.477G>A c.(475-477)aaG>aaA p.K159K ADH7_ENST00000209665.4_Silent_p.K171K|ADH7_ENST00000482593.1_Silent_p.K102K|ADH7_ENST00000476959.1_Silent_p.K179K P40394 ADH7_HUMAN alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide 171 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1) 19 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) CATCATCAATCTTAGCAACAG 0.463000 17 59 0 0 1 0 0 NPR1 4881 broad.mit.edu 37 1 153658315 153658315 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:153658315G>A ENST00000368680.3 + 9 2111 c.1639G>A c.(1639-1641)Gag>Aag p.E547K NM_000906.3 NP_000897.3 P16066 ANPRA_HUMAN natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) 547 Protein kinase. body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325) GCTAACCACAGAGGGCCAGTT 0.562000 14 48 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14558700 14558700 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:14558700G>A ENST00000273083.3 - 0 1242 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GGTCGGCGAGGAAAAGGGAGT 0.622000 10 29 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6470173 6470173 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:6470173G>A ENST00000263125.5 - 18 2216 c.2117C>T c.(2116-2118)tCc>tTc p.S706F PRKCQ_ENST00000397176.2_Missense_Mutation_p.S643F|PRKCQ_ENST00000539722.1_Missense_Mutation_p.S581F NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 706 AGC-kinase C-terminal. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CAAGATTCAGGATATCAGCCG 0.493000 33 84 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30694695 30694695 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:30694695C>T ENST00000471646.1 - 11 1472 c.1053_splice c.e11-1 p.G352_splice CRHR2_ENST00000348438.4_Splice_Site_p.G379_splice|CRHR2_ENST00000341843.4_Splice_Site_p.G338_splice|CRHR2_ENST00000506074.2_Splice_Site_p.G352_splice NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 352 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CACGAAGAAACCCTGGAAAGG 0.597000 6 16 0 0 1 0 0 TNFSF10 8743 broad.mit.edu 37 3 172241118 172241118 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:172241118G>A ENST00000241261.2 - 1 179 c.57C>T c.(55-57)atC>atT p.I19I TNFSF10_ENST00000420541.2_Silent_p.I19I NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 19 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TGAAGATCACGATCAGCACGC 0.562000 23 46 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70331778 70331778 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:70331778C>T ENST00000338508.4 - 32 4622 c.4623G>A c.(4621-4623)atG>atA p.M1541I SHANK2_ENST00000409161.1_Missense_Mutation_p.M944I|SHANK2_ENST00000449833.2_Missense_Mutation_p.M945I|SHANK2_ENST00000423696.2_Missense_Mutation_p.M1161I Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1161 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GTTTGTCAACCATAAATGCTT 0.483000 19 66 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57473463 57473463 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:57473463C>T ENST00000374900.4 + 9 1339 c.1219C>T c.(1219-1221)Cct>Tct p.P407S FAAH2_ENST00000491179.1_Intron NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 407 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 GTACACCATCCCTTCCATTGG 0.398000 HNSCC(52;0.14) 6 7 0 0 1 0 0 TRBV19 28568 broad.mit.edu 37 7 142326549 142326549 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142326549C>T ENST00000390393.3 + 0 187 GCTTGGAGCTCCAAGAAGGCC 0.527000 10 37 0 0 1 0 0 NXPH3 11248 broad.mit.edu 37 17 47656161 47656161 + Silent SNP G G A rs36092288 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:47656161G>A ENST00000328741.5 + 2 620 c.258G>A c.(256-258)ccG>ccA p.P86P NXPH3_ENST00000513748.1_Silent_p.P86P NM_007225.2 NP_009156.2 O95157 NXPH3_HUMAN neurexophilin 3 86 III. neuropeptide signaling pathway extracellular region endometrium(2)|large_intestine(3)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(4;7.45e-14)|Breast(4;1.08e-27)|all_epithelial(4;2.27e-17) CCAACCGCCCGAACCACAGCC 0.627000 44 28 0 0 1 0 0 XKR4 114786 broad.mit.edu 37 8 56436222 56436222 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:56436222G>A ENST00000327381.5 + 3 1489 c.1389G>A c.(1387-1389)gtG>gtA p.V463V NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 463 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) ACTATTTTGTGATCCTTTTGG 0.468000 26 68 0 0 1 0 0 E2F1 1869 broad.mit.edu 37 20 32264941 32264941 + Missense_Mutation SNP G G A rs145759508 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:32264941G>A ENST00000343380.5 - 6 1175 c.1036C>T c.(1036-1038)Ccc>Tcc p.P346S NM_005225.2 NP_005216.1 Q01094 E2F1_HUMAN E2F transcription factor 1 346 Required for interaction with TRIM28. apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle mitochondrion|Rb-E2F complex sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 16 GACTGGCTGGGATCTGTGGTG 0.632000 13 59 0 0 1 0 0 IL1B 3553 broad.mit.edu 37 2 113590346 113590346 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:113590346C>T ENST00000263341.2 - 5 569 c.359G>A c.(358-360)cGa>cAa p.R120Q IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 120 Involved in receptor binding. activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) GTTCAGTGATCGTACAGGTGC 0.473000 45 43 0 0 1 0 0 CHCHD6 84303 broad.mit.edu 37 3 126452010 126452010 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:126452010C>T ENST00000508789.1 + 4 428 c.356C>T c.(355-357)tCc>tTc p.S119F CHCHD6_ENST00000290913.3_Missense_Mutation_p.S119F Q9BRQ6 CHCH6_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 6 119 endometrium(2)|large_intestine(3)|lung(3) 8 TCCAAGGCATCCCTGCCCACG 0.572000 11 29 0 0 1 0 0 F3 2152 broad.mit.edu 37 1 95005851 95005851 + Silent SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:95005851T>C ENST00000334047.7 - 2 337 c.174A>G c.(172-174)gaA>gaG p.E58E F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.E58E NM_001993.4 NP_001984.1 P13726 TF_HUMAN coagulation factor III (thromboplastin, tissue factor) 58 activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7) 14 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) CGGGTTTGGGTTCCCACTCCA 0.358000 24 46 0 0 1 0 0 DHX34 9704 broad.mit.edu 37 19 47870283 47870283 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:47870283G>A ENST00000328771.4 + 7 1988 c.1639G>A c.(1639-1641)Gag>Aag p.E547K DHX34_ENST00000471451.1_3'UTR NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 547 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCCCTTCATCGAGCCCCCACC 0.612000 13 33 0 0 1 0 0 OR14J1 442191 broad.mit.edu 37 6 29275343 29275343 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:29275343G>A ENST00000377160.2 + 1 941 c.877G>A c.(877-879)Gat>Aat p.D293N NM_030946.1 NP_112208.1 Q9UGF5 O14J1_HUMAN olfactory receptor, family 14, subfamily J, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2) 17 CTTACGGAATGATTCCATGAA 0.418000 23 81 0 0 1 0 0 CLU 1191 broad.mit.edu 37 8 27462613 27462613 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:27462613G>A ENST00000316403.10 - 5 1062 c.657C>T c.(655-657)ttC>ttT p.F219F CLU_ENST00000546343.1_Silent_p.F230F|CLU_ENST00000560366.1_Silent_p.F271F|CLU_ENST00000405140.3_Silent_p.F219F|CLU_ENST00000523500.1_Silent_p.F219F P10909 CLUS_HUMAN clusterin 219 chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle misfolded protein binding|ubiquitin protein ligase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2) 21 Ovarian(32;2.61e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132) ACTTGGGAAAGAAGAAGTGAG 0.587000 17 68 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 26026289 26026289 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:26026289G>A ENST00000356865.6 - 2 642 c.531C>T c.(529-531)ttC>ttT p.F177F NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 177 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity p.F177L(1)|p.F177_P178>LT(1) NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TGTCCGCAGGGAAGATTTCGT 0.527000 15 46 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47333708 47333708 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:47333708G>A ENST00000505841.1 - 0 980 NR_002788.2 AGCAGTAAAAGATCCAGGAGA 0.453000 9 25 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122756642 122756642 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:122756642C>T ENST00000245838.8 - 30 3783 c.3752G>A c.(3751-3753)gGg>gAg p.G1251E THOC2_ENST00000355725.4_Missense_Mutation_p.G1251E|THOC2_ENST00000491737.1_Missense_Mutation_p.G1136E NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1251 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 GCTTGAATTCCCTTTAGGTGT 0.318000 3 8 0 0 1 0 0 PPIB 5479 broad.mit.edu 37 15 64448234 64448234 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:64448234G>A ENST00000300026.3 - 5 857 c.639C>T c.(637-639)atC>atT p.I213I SNX22_ENST00000325881.4_3'UTR NM_000942.4 NP_000933.1 P23284 PPIB_HUMAN peptidylprolyl isomerase B (cyclophilin B) 213 protein folding endoplasmic reticulum lumen|melanosome peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding kidney(2)|large_intestine(2)|lung(6) 10 L-Proline(DB00172) ACTCCTTGGCGATGGCAAAGG 0.597000 25 23 0 0 1 0 0 YWHAQ 10971 broad.mit.edu 37 2 9727594 9727594 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:9727594G>A ENST00000381844.4 - 4 790 c.627C>T c.(625-627)gaC>gaT p.D209D YWHAQ_ENST00000238081.3_Silent_p.D209D|YWHAQ_ENST00000474715.1_5'UTR P27348 1433T_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide 209 negative regulation of transcription, DNA-dependent centrosome|nucleus protein N-terminus binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 6 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.241) CTTTGTATGAGTCTTCATTCA 0.338000 12 49 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039443 248039443 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:248039443G>A ENST00000366481.3 + 6 1161 c.1113G>A c.(1111-1113)ggG>ggA p.G371G OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 371 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CAAGAAAGGGGGAAACCACGC 0.562000 30 60 0 0 1 0 0 USP15 9958 broad.mit.edu 37 12 62749225 62749225 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:62749225G>A ENST00000280377.5 + 8 942 c.884G>A c.(883-885)gGa>gAa p.G295E USP15_ENST00000393654.3_Missense_Mutation_p.G270E|USP15_ENST00000353364.3_Missense_Mutation_p.G266E NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 295 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) AGTAACTTGGGAAATACGTGT 0.373000 10 26 0 0 1 0 0 LINC00842 643650 broad.mit.edu 37 10 47133372 47133372 + RNA SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:47133372A>G ENST00000422732.2 - 0 435 NR_033957.1 CTGCTGCTGGAACCGCCAATA 0.493000 11 76 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34011640 34011640 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:34011640C>T ENST00000373381.4 - 57 9273 c.9097G>A c.(9097-9099)Gga>Aga p.G3033R NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3008 Sushi 23. 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) ACATTACCTCCACACTCAGGC 0.597000 18 52 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40958352 40958352 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:40958352G>A ENST00000313164.9 + 11 1837 c.1478G>A c.(1477-1479)gGg>gAg p.G493E NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 493 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GTCCTCGTAGGGAATCAAGCA 0.488000 16 60 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104193083 104193083 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:104193083C>T ENST00000374855.4 - 2 211 c.87G>A c.(85-87)ggG>ggA p.G29G ALDOB_ENST00000468981.2_5'UTR NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 29 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) CAGCCAGGATCCCCTTTCCAT 0.448000 14 34 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71209278 71209278 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:71209278G>A ENST00000554752.2 - 6 1356 c.1357C>T c.(1357-1359)Cgg>Tgg p.R453W MAP3K9_ENST00000554146.1_Missense_Mutation_p.R190W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R453W|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R147W|MAP3K9_ENST00000381250.4_Missense_Mutation_p.R453W P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 453 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) AGTGCAGCCCGCGTCAGCTCC 0.627000 12 25 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27089649 27089649 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:27089649G>A ENST00000324856.7 + 8 2976 c.2605G>A c.(2605-2607)Ggc>Agc p.G869S ARID1A_ENST00000374152.2_Missense_Mutation_p.G486S|ARID1A_ENST00000457599.2_Missense_Mutation_p.G869S NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 869 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCGGCCTTATGGCCCTAACAT 0.597000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 17 37 0 0 1 0 0 ACAD9 28976 broad.mit.edu 37 3 128623306 128623306 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:128623306A>G ENST00000308982.7 + 11 1188 c.1107A>G c.(1105-1107)caA>caG p.Q369Q ACAD9_ENST00000511526.1_3'UTR NM_014049.4 NP_054768.2 Q9H845 ACAD9_HUMAN acyl-CoA dehydrogenase family, member 9 369 mitochondrion acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 30 TGCTGGACCAACCTGGCTTTC 0.542000 8 27 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 215914757 215914757 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:215914757C>T ENST00000366943.2 - 60 12057 c.11671G>A c.(11671-11673)Gaa>Aaa p.E3891K USH2A_ENST00000307340.3_Missense_Mutation_p.E3891K O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3891 Fibronectin type-III 24. 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) TTTGGTTTTTCAGGTGGCATC 0.388000 HNSCC(13;0.011) 23 71 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81627142 81627142 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:81627142C>T ENST00000548058.1 + 13 2521 c.1611C>T c.(1609-1611)acC>acT p.T537T ACSS3_ENST00000548324.1_Silent_p.T219T|ACSS3_ENST00000261206.3_Silent_p.T536T Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 537 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 ATTATGATACCATGGATGCTG 0.338000 29 84 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28511016 28511016 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:28511016G>A ENST00000261609.7 - 13 1811 c.1703C>T c.(1702-1704)gCc>gTc p.A568V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 568 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) CTCCCCCTCGGCAGTGATGGC 0.642000 13 38 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27279649 27279649 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:27279649G>A ENST00000360131.4 + 8 1683 c.1524G>A c.(1522-1524)ggG>ggA p.G508G AGBL5_ENST00000323064.8_Silent_p.G508G NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 508 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGCCTCAGGGATAATCCACA 0.483000 33 86 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82544719 82544719 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:82544719G>A ENST00000423517.2 - 7 12920 c.12583C>T c.(12583-12585)Cta>Tta p.L4195L PCLO_ENST00000333891.8_Silent_p.L4195L|PCLO_ENST00000437081.1_Silent_p.L915L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4126 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 GGGTCAATTAGTGATTTCTTA 0.358000 12 35 0 0 1 0 0 ANKRD28 23243 broad.mit.edu 37 3 15762437 15762437 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:15762437G>A ENST00000399451.2 - 8 1258 c.891C>T c.(889-891)gcC>gcT p.A297A ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Silent_p.A330A NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 297 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 TATTGACATCGGCCCCATTGC 0.353000 16 38 0 0 1 0 0 TRAV9-1 28678 broad.mit.edu 37 14 22280016 22280016 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:22280016G>A ENST00000390431.3 + 0 205 CCACCTGAAAGCCATGAAGGC 0.458000 8 34 0 0 1 0 0 CCDC163P 126661 broad.mit.edu 37 1 45963020 45963020 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:45963020C>T ENST00000490551.3 - 3 577 c.213G>A c.(211-213)gaG>gaA p.E71E CCDC163P_ENST00000432082.1_Silent_p.E71E|CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000488405.2_Silent_p.E71E cervix(1)|endometrium(1) 2 TCTCTGACTCCTCCCACAGCA 0.448000 8 29 0 0 1 0 0 LPHN2 23266 broad.mit.edu 37 1 82408771 82408771 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:82408771C>T ENST00000370728.1 + 8 1161 c.516C>T c.(514-516)ttC>ttT p.F172F LPHN2_ENST00000370725.1_Silent_p.F172F|LPHN2_ENST00000359929.3_Silent_p.F172F|LPHN2_ENST00000370727.1_Silent_p.F172F|LPHN2_ENST00000370717.2_Silent_p.F172F|LPHN2_ENST00000271029.4_Silent_p.F172F|LPHN2_ENST00000370723.1_Silent_p.F172F|LPHN2_ENST00000335786.5_Silent_p.F172F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370730.1_Silent_p.F172F|LPHN2_ENST00000319517.6_Silent_p.F172F|LPHN2_ENST00000370721.1_Silent_p.F176F|LPHN2_ENST00000370713.1_Silent_p.F172F|LPHN2_ENST00000394879.1_Silent_p.F172F|LPHN2_ENST00000370715.1_Silent_p.F172F O95490 LPHN2_HUMAN latrophilin 2 172 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) AAATTTATTTCATGCCCTGGA 0.398000 24 52 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46009409 46009409 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:46009409G>A ENST00000296137.2 - 8 1622 c.1417C>T c.(1417-1419)Ctg>Ttg p.L473L FYCO1_ENST00000535325.1_Silent_p.L473L NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 473 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) AACTCCTGCAGCCGTCGCCAG 0.637000 25 88 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76389314 76389314 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:76389314G>A ENST00000307431.8 + 4 678 c.293G>A c.(292-294)gGa>gAa p.G98E CNTNAP4_ENST00000377504.4_Missense_Mutation_p.G98E|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.G102E|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.G74E|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 99 F5/8 type C. cell adhesion|signal transduction integral to membrane receptor binding p.G74E(2)|p.G98E(1) breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 ACTCAAGGGGGATATGGTAGC 0.522000 18 25 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21234154 21234154 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:21234154C>T ENST00000233242.1 - 26 5713 c.5586G>A c.(5584-5586)gtG>gtA p.V1862V NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 1862 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GGCTAAACTCCACACCCTGAA 0.443000 139 311 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 348073 348073 + Missense_Mutation SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:348073A>C ENST00000262320.3 - 6 1804 c.1433T>G c.(1432-1434)gTg>gGg p.V478G AXIN1_ENST00000354866.3_Missense_Mutation_p.V478G|AXIN1_ENST00000481769.1_5'UTR NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 478 Interaction with CTNNB1 (By similarity). activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) TGTCCTCAGCACACGCTGTAC 0.692000 OREG0003699 type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 8 0 0 1 0 0 SPATA21 374955 broad.mit.edu 37 1 16727338 16727338 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:16727338C>T ENST00000335496.1 - 11 1533 c.1051G>A c.(1051-1053)Gaa>Aaa p.E351K SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.E328K NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 351 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) ACGGCCGCTTCCATCTCCTGG 0.567000 46 118 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120876392 120876392 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:120876392C>T ENST00000273666.6 + 9 1066 c.795C>T c.(793-795)ttC>ttT p.F265F STXBP5L_ENST00000492541.1_Silent_p.F265F|STXBP5L_ENST00000497029.1_Silent_p.F265F|STXBP5L_ENST00000471454.1_Silent_p.F265F|STXBP5L_ENST00000472879.1_Silent_p.F265F NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 265 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GCAAACAGTTCATGTGCAGCC 0.378000 14 35 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31362167 31362167 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:31362167G>A ENST00000559179.1 - 3 413 c.280C>T c.(280-282)Ccc>Tcc p.P94S TRPM1_ENST00000542188.1_Intron|TRPM1_ENST00000256552.6_Intron|TRPM1_ENST00000397795.2_Intron NM_001252030.1 NP_001238959.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 1379 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TGCAGTTTGGGGCTGGGAGAC 0.468000 61 125 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129159089 129159089 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:129159089C>T ENST00000540052.1 + 6 3857 c.3813C>T c.(3811-3813)acC>acT p.T1271T BCORL1_ENST00000359304.2_Intron|BCORL1_ENST00000218147.7_Silent_p.T1271T|BCORL1_ENST00000303743.5_Silent_p.T1271T NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1271 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 TGAGAAAGACCCAACGGGACA 0.597000 29 19 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77666856 77666856 + Silent SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:77666856A>G ENST00000461745.1 + 22 4386 c.3486A>G c.(3484-3486)caA>caG p.Q1162Q ROBO2_ENST00000487694.3_Silent_p.Q1178Q|ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Silent_p.Q1162Q NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 1162 apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) AAGAGATGCAACCCATGCTGC 0.483000 15 49 0 0 1 0 0 TRIM4 89122 broad.mit.edu 37 7 99506319 99506319 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:99506319C>T ENST00000355947.2 - 4 813 c.684G>A c.(682-684)acG>acA p.T228T TRIM4_ENST00000354241.5_Silent_p.T202T|TRIM4_ENST00000349062.2_Silent_p.T202T NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 228 protein trimerization cytoplasm|plasma membrane zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1) 17 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Ovarian(593;0.238) GCTTCTTCTTCGTCTCTTCTT 0.448000 24 62 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142204176 142204176 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:142204176G>A ENST00000519811.1 + 23 3751 c.3681G>A c.(3679-3681)ggG>ggA p.G1227G DENND3_ENST00000262585.2_Silent_p.G1147G|DENND3_ENST00000523308.1_Silent_p.G197G|DENND3_ENST00000424248.1_Silent_p.G1095G A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 1147 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CACCCAAGGGGAAAATCTACG 0.632000 19 55 0 0 1 0 0 ZNF564 163050 broad.mit.edu 37 19 12637866 12637866 + Silent SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:12637866A>C ENST00000339282.7 - 4 1252 c.1056T>G c.(1054-1056)gtT>gtG p.V352V CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron NM_144976.3 NP_659413.1 zinc finger protein 564 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 CATGTGTTCGAACATTACTGG 0.408000 32 50 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65402909 65402909 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:65402909G>A ENST00000355703.3 + 31 5713 c.5174G>A c.(5173-5175)cGa>cAa p.R1725Q NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1725 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CTCAGCTTCCGAGTCATCAAG 0.662000 5 14 0 0 1 0 0 PACSIN1 29993 broad.mit.edu 37 6 34497502 34497502 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:34497502G>A ENST00000538621.1 + 6 917 c.672G>A c.(670-672)atG>atA p.M224I PACSIN1_ENST00000374043.2_Missense_Mutation_p.M182I|PACSIN1_ENST00000244458.2_Missense_Mutation_p.M224I NM_001199583.1 NP_001186512.1 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in neurons 1 224 endocytosis protein kinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 13 CCCAGTACATGGAGAACATGG 0.542000 17 22 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39358893 39358893 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:39358893C>T ENST00000280481.7 + 6 6183 c.5967C>T c.(5965-5967)atC>atT p.I1989I NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1989 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGGGAAGAATCGGATCAGAGT 0.448000 12 25 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100128015 100128015 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:100128015C>T ENST00000395996.1 + 7 961 c.850C>T c.(850-852)Ctt>Ttt p.L284F VPS13B_ENST00000355155.1_Missense_Mutation_p.L284F|VPS13B_ENST00000358544.2_Missense_Mutation_p.L284F|VPS13B_ENST00000441350.2_Missense_Mutation_p.L284F|VPS13B_ENST00000357162.2_Missense_Mutation_p.L284F Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 284 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGGAATTGCTCTTTACTATGG 0.318000 15 50 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41557023 41557023 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:41557023C>T ENST00000396942.1 - 23 2588 c.2505G>A c.(2503-2505)agG>agA p.R835R ANK1_ENST00000289734.7_Silent_p.R835R|ANK1_ENST00000396945.1_Silent_p.R835R|ANK1_ENST00000352337.4_Silent_p.R835R|ANK1_ENST00000347528.4_Silent_p.R835R|ANK1_ENST00000379758.2_Silent_p.R835R|ANK1_ENST00000265709.8_Silent_p.R876R P16157 ANK1_HUMAN ankyrin 1, erythrocytic 835 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) CATCAACATCCCTGGAATCCC 0.562000 29 86 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131792960 131792960 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:131792960G>A ENST00000286355.5 - 18 5524 c.3432C>T c.(3430-3432)ggC>ggT p.G1144G ADCY8_ENST00000377928.3_Silent_p.G1013G NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 1144 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CAAAGGCAAAGCCCTGGTCCT 0.517000 HNSCC(32;0.087) 42 80 0 0 1 0 0 MYOCD 93649 broad.mit.edu 37 17 12655897 12655897 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:12655897C>T ENST00000425538.1 + 10 1492 c.1292C>T c.(1291-1293)cCc>cTc p.P431L MYOCD_ENST00000395988.1_Missense_Mutation_p.P335L|MYOCD_ENST00000343344.4_Missense_Mutation_p.P431L NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 431 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 70 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) AACACGCTGCCCAATTACCAG 0.577000 26 65 0 0 1 0 0 OR4C46 119749 broad.mit.edu 37 11 51516172 51516172 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:51516172G>A ENST00000328188.1 + 1 891 c.891G>A c.(889-891)agG>agA p.R297R NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 ATGCCATCAGGAAATTGTGTA 0.348000 9 39 0 0 1 0 0 KCNAB1 7881 broad.mit.edu 37 3 155861161 155861161 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:155861161G>A ENST00000471742.1 + 1 411 c.194G>A c.(193-195)gGa>gAa p.G65E KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389636.5_Intron NM_003471.3 NP_003462.2 Q14722 KCAB1_HUMAN potassium voltage-gated channel, shaker-related subfamily, beta member 1 76 cytoplasm|integral to membrane oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CGTGTTCATGGAATTTCGTTG 0.522000 29 71 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106865240 106865240 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:106865240C>T ENST00000369701.3 + 7 1406 c.1179C>T c.(1177-1179)tcC>tcT p.S393S NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 393 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) ACATCAGTTCCCTGGTTGTCC 0.498000 32 81 0 0 1 0 0 BRINP2 57795 broad.mit.edu 37 1 177247797 177247797 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:177247797C>T ENST00000361539.4 + 7 1423 c.1111C>T c.(1111-1113)Cgc>Tgc p.R371C FAM5B_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 Q9C0B6 FAM5B_HUMAN 371 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CCTTCAGCACCGCTACCAGCA 0.587000 49 124 0 0 1 0 0 SMG9 56006 broad.mit.edu 37 19 44251629 44251629 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:44251629C>T ENST00000601170.1 - 5 867 c.553G>A c.(553-555)Gat>Aat p.D185N SMG9_ENST00000270066.6_Missense_Mutation_p.D185N Q9H0W8 SMG9_HUMAN SMG9 nonsense mediated mRNA decay factor 185 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding kidney(1)|large_intestine(5)|liver(1)|lung(7)|pancreas(1)|prostate(2)|urinary_tract(2) 19 ATCTGGTCATCCACCAACTTG 0.567000 12 35 0 0 1 0 0 HPSE 10855 broad.mit.edu 37 4 84230618 84230618 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:84230618C>T ENST00000405413.2 - 8 1057 c.921G>A c.(919-921)aaG>aaA p.K307K HPSE_ENST00000311412.5_Silent_p.K307K|HPSE_ENST00000513463.1_Silent_p.K249K|HPSE_ENST00000512196.1_Silent_p.K307K NM_006665.5 NP_006656.2 Q9Y251 HPSE_HUMAN heparanase 307 K -> R (in Ref. 1; AAD45669, 2; AAD54941, 3; AAD41342, 4; AAD45379, 5; AAD54516, 8; AAX47106, 9; BAD96706 and 11; AAH51321). carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process extracellular region|lysosomal membrane|nucleus beta-glucuronidase activity|cation binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 20 Hepatocellular(203;0.114) COAD - Colon adenocarcinoma(81;0.141) Heparin(DB01109) GAAAATCTTCCTTGGTAGCAG 0.289000 9 28 0 0 1 0 0 ROBO2 6092 broad.mit.edu 37 3 77595570 77595570 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:77595570G>A ENST00000461745.1 + 7 1916 c.1016G>A c.(1015-1017)gGa>gAa p.G339E ROBO2_ENST00000487694.3_Missense_Mutation_p.G355E|ROBO2_ENST00000332191.8_Missense_Mutation_p.G339E NM_002942.4 NP_002933.1 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 (Drosophila) 339 Ig-like C2-type 4. apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 117 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GAAACTAAAGGAAACCCACAG 0.453000 57 172 0 0 1 0 0 IP6K3 117283 broad.mit.edu 37 6 33694681 33694681 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:33694681G>A ENST00000451316.1 - 5 951 c.416C>T c.(415-417)cCg>cTg p.P139L IP6K3_ENST00000293756.4_Missense_Mutation_p.P139L NM_001142883.1 NP_001136355.1 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 139 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity skin(1) 1 AGCCTTGGCCGGGCTGCGGCG 0.627000 19 89 0 0 1 0 0 DUSP22 56940 broad.mit.edu 37 6 335148 335148 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:335148C>T ENST00000419235.2 + 4 251 c.173C>T c.(172-174)tCa>tTa p.S58L DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605035.1_Intron|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000605315.1_Intron|DUSP22_ENST00000604971.1_Intron|DUSP22_ENST00000344450.5_Missense_Mutation_p.S58L|DUSP22_ENST00000603290.1_3'UTR Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 58 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GCAGCGGATTCACCATCTCAA 0.318000 7 47 0 0 1 0 0 OR13G1 441933 broad.mit.edu 37 1 247835945 247835945 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:247835945C>T ENST00000359688.2 - 1 420 c.399G>A c.(397-399)atG>atA p.M133I RP11-634B7.4_ENST00000449298.1_RNA NM_001005487.1 NP_001005487.1 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, member 1 133 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) TATGGTGGTTCATAATAGTAC 0.473000 19 32 0 0 1 0 0 TRIM42 287015 broad.mit.edu 37 3 140401350 140401350 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:140401350G>A ENST00000286349.3 + 2 579 c.388G>A c.(388-390)Gaa>Aaa p.E130K NM_152616.4 NP_689829.3 Q8IWZ5 TRI42_HUMAN tripartite motif containing 42 130 intracellular zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCAGGTGGATGAAGTAAAGTC 0.567000 21 43 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739043 38739043 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:38739043G>A ENST00000449082.2 - 27 5667 c.5668C>T c.(5668-5670)Cca>Tca p.P1890S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1890 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCTTCATCTGGGAGTGATGCA 0.498000 28 79 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63937858 63937858 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:63937858C>T ENST00000443617.2 - 56 10989 c.10902G>A c.(10900-10902)tgG>tgA p.W3634* NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 3634 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CTGTAGGGTCCCACTTCATGC 0.383000 3 6 0 0 1 0 0 PHOX2B 8929 broad.mit.edu 37 4 41748208 41748208 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:41748208G>A ENST00000226382.2 - 3 920 c.561C>T c.(559-561)gcC>gcT p.A187A NM_003924.3 NP_003915.2 Q99453 PHX2B_HUMAN paired-like homeobox 2b 187 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 30 CAGTGCTCTTGGCCTCTTTGC 0.711000 """Mis, F""" neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 13 40 0 0 1 0 0 KCNJ10 3766 broad.mit.edu 37 1 160011505 160011505 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:160011505C>T ENST00000368089.3 - 2 1044 c.818G>A c.(817-819)gGt>gAt p.G273D KCNJ10_ENST00000509700.1_Intron NM_002241.4 NP_002232.2 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily J, member 10 273 integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1) 17 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GTCACCCTCACCACTGCGAAG 0.537000 20 41 0 0 1 0 0 KCNA6 3742 broad.mit.edu 37 12 4919946 4919946 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:4919946G>A ENST00000433855.1 + 1 1605 c.739G>A c.(739-741)Ggc>Agc p.G247S KCNA6_ENST00000280684.3_Missense_Mutation_p.G247S NM_002235.3 NP_002226.1 P17658 KCNA6_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 6 247 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 GGGGACCGGGGGCTCCTCCTC 0.547000 HNSCC(72;0.22) 30 96 0 0 1 0 0 RAX 30062 broad.mit.edu 37 18 56939824 56939824 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:56939824C>T ENST00000334889.3 - 2 498 c.312G>A c.(310-312)aaG>aaA p.K104K RAX_ENST00000256852.7_Intron NM_013435.2 NP_038463.2 Q9Y2V3 RX_HUMAN retina and anterior neural fold homeobox 104 visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 Lung NSC(161;0.0804)|Colorectal(73;0.0946) STAD - Stomach adenocarcinoma(84;0.18) CCCCGGGCTCCTTGGGGCAGT 0.697000 10 24 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150817200 150817200 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:150817200A>G ENST00000397238.2 + 8 1096 c.1096A>G c.(1096-1098)Aag>Gag p.K366E AGAP3_ENST00000479901.1_Intron|AGAP3_ENST00000473312.1_Missense_Mutation_p.K366E|AGAP3_ENST00000463381.1_Missense_Mutation_p.K138E|AGAP3_ENST00000335367.3_Missense_Mutation_p.K546E NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 330 Small GTPase-like. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 ACCCATCCGAAAGCAGTCCAA 0.667000 10 23 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100194381 100194381 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:100194381C>T ENST00000355295.4 + 4 719 c.424C>T c.(424-426)Ccg>Tcg p.P142S TDRD7_ENST00000422139.2_Missense_Mutation_p.P68S NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 142 lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) TAATCCAGCACCGTTAAGAGA 0.388000 18 75 0 0 1 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3674323 3674323 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:3674323G>A ENST00000344754.4 - 13 3278 c.3279C>T c.(3277-3279)ccC>ccT p.P1093P SIGLEC1_ENST00000202578.4_Silent_p.P1093P NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 1093 Ig-like C2-type 11. 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 CGGTAGCCCCGGGCCACACCT 0.642000 9 34 0 0 1 0 0 ZEB1 6935 broad.mit.edu 37 10 31815683 31815683 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:31815683G>A ENST00000446923.2 + 9 3209 c.2818G>A c.(2818-2820)Gga>Aga p.G940R ZEB1_ENST00000542815.3_Missense_Mutation_p.G889R|ZEB1_ENST00000361642.5_Missense_Mutation_p.G957R|ZEB1_ENST00000560721.2_Missense_Mutation_p.G936R|ZEB1_ENST00000320985.10_Missense_Mutation_p.G956R NM_001128128.2|NM_001174094.1 NP_001121600.1|NP_001167565.1 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 956 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4) 77 Prostate(175;0.0156) ATTACATTCTGGAGAAAAGCC 0.383000 10 25 0 0 1 0 0 SLC30A2 7780 broad.mit.edu 37 1 26369133 26369133 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:26369133C>T ENST00000374278.3 - 4 708 c.492G>A c.(490-492)gaG>gaA p.E164E SLC30A2_ENST00000374276.3_Silent_p.E213E NM_032513.3 NP_115902.1 Q9BRI3 ZNT2_HUMAN solute carrier family 30 (zinc transporter), member 2 164 positive regulation of sequestering of zinc ion|zinc ion transport integral to membrane|late endosome|lysosomal membrane cation transmembrane transporter activity cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649) CGCTGGGGTTCTCCTCCTGCT 0.552000 16 46 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7984847 7984847 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:7984847C>T ENST00000328600.2 - 1 357 c.196G>A c.(196-198)Gga>Aga p.G66R NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 66 DAPIN. ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TCCTTTTCTCCATACTTTGAA 0.532000 20 58 0 0 1 0 0 ZNF214 7761 broad.mit.edu 37 11 7021121 7021121 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:7021121T>C ENST00000278314.4 - 3 2108 c.1793A>G c.(1792-1794)cAc>cGc p.H598R ZNF214_ENST00000536068.1_Missense_Mutation_p.H598R NM_013249.2 NP_037381.2 Q9UL59 ZN214_HUMAN zinc finger protein 214 598 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) ATGATTATTGTGAAGATGTGA 0.323000 14 30 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100685526 100685526 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:100685526C>T ENST00000306151.4 + 3 10893 c.10829C>T c.(10828-10830)tCt>tTt p.S3610F NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3610 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GTGACCACTTCTACTCAGAGC 0.468000 29 82 0 0 1 0 0 MX2 4600 broad.mit.edu 37 21 42769547 42769547 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:42769547C>T ENST00000330714.3 + 8 1262 c.1078C>T c.(1078-1080)Ctg>Ttg p.L360L MX2_ENST00000496774.1_3'UTR|MX2_ENST00000543692.1_3'UTR NM_002463.1 NP_002454.1 P20592 MX2_HUMAN myxovirus (influenza virus) resistance 2 (mouse) 360 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 34 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) CAGAGTTCTCCTGGAGGAGGG 0.527000 12 28 0 0 1 0 0 THBS2 7058 broad.mit.edu 37 6 169641872 169641872 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:169641872C>T ENST00000366787.3 - 6 1125 c.876G>A c.(874-876)gaG>gaA p.E292E NM_003247.2 NP_003238.2 P35442 TSP2_HUMAN thrombospondin 2 292 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity p.E292E(1) 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) TCTTGAGGTTCTCGCTGAGCT 0.647000 18 66 0 0 1 0 0 SEPT12 124404 broad.mit.edu 37 16 4828127 4828127 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:4828127C>T ENST00000268231.8 - 9 1098 c.835G>A c.(835-837)Gcg>Acg p.A279T SEPT12_ENST00000396693.5_Missense_Mutation_p.A233T NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 279 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 TCACAGTGCGCCATGTTCTCC 0.582000 5 19 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141215202 141215202 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:141215202G>A ENST00000389484.3 - 61 10615 c.9644C>T c.(9643-9645)cCa>cTa p.P3215L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3215 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) AATCACCCCTGGAATATCTTG 0.418000 TSP Lung(27;0.18) 21 64 0 0 1 0 0 MARC1 64757 broad.mit.edu 37 1 220971238 220971238 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:220971238C>T ENST00000366910.5 + 4 821 c.635C>T c.(634-636)cCa>cTa p.P212L MARC1_ENST00000496110.1_3'UTR NM_022746.3 NP_073583.3 Q5VT66 MOSC1_HUMAN mitochondrial amidoxime reducing component 1 212 MOSC. molybdenum ion binding|oxidoreductase activity|pyridoxal phosphate binding GACACCAGCCCATTCTTGATC 0.438000 11 44 0 0 1 0 0 SMARCAL1 50485 broad.mit.edu 37 2 217279494 217279494 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:217279494C>T ENST00000357276.4 + 3 397 c.67C>T c.(67-69)Cgc>Tgc p.R23C SMARCAL1_ENST00000358207.5_Missense_Mutation_p.R23C NM_014140.3 NP_054859.2 Q9NZC9 SMAL1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 23 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity p.R23G(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1) 42 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GGCTCTGGCCCGCAGAGCTGA 0.498000 Schimke Immuno-Osseous Dysplasia 96 70 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48347047 48347047 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:48347047C>T ENST00000319856.4 + 1 576 c.555C>T c.(553-555)ctC>ctT p.L185L NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 TGGTTCAGCTCCTCCTGGTCC 0.527000 19 92 0 0 1 0 0 OR51F2 119694 broad.mit.edu 37 11 4843555 4843555 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:4843555C>T ENST00000322110.5 + 1 1005 c.940C>T c.(940-942)Caa>Taa p.Q314* MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004753.1 NP_001004753.1 Q8NH61 O51F2_HUMAN olfactory receptor, family 51, subfamily F, member 2 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) TAAGCAGATTCAAAAGGCCAT 0.373000 27 74 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767364 77767364 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:77767364C>T ENST00000521891.2 + 10 8655 c.8207C>T c.(8206-8208)cCa>cTa p.P2736L ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2691L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2691L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2710L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2691 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCATCTTTGCCATTAACTAAA 0.413000 HNSCC(33;0.089) 15 30 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13378289 13378289 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:13378289C>T ENST00000254508.5 - 27 3764 c.3682G>A c.(3682-3684)Gag>Aag p.E1228K NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1228 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TTACCTACCTCGTGGTGCCGC 0.647000 15 25 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69129923 69129923 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:69129923C>T ENST00000288368.4 + 38 4954 c.4677C>T c.(4675-4677)atC>atT p.I1559I 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 1559 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 CTCGTTACATCATGCAGGCTA 0.527000 13 16 0 0 1 0 0 PPP3CC 5533 broad.mit.edu 37 8 22390488 22390488 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:22390488C>T ENST00000240139.5 + 12 1605 c.1278C>T c.(1276-1278)ctC>ctT p.L426L PPP3CC_ENST00000397775.3_Silent_p.L435L|PPP3CC_ENST00000289963.8_Silent_p.L426L NM_005605.4 NP_005596.2 P48454 PP2BC_HUMAN protein phosphatase 3, catalytic subunit, gamma isozyme 426 activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals cytosol calmodulin binding|metal ion binding|phosphoprotein phosphatase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 Prostate(55;0.104) BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835) CAGGCACACTCCCTCTGGGCG 0.557000 11 41 0 0 1 0 0 CLIC1 1192 broad.mit.edu 37 6 31698746 31698746 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:31698746G>A ENST00000375780.2 - 7 1171 c.599C>T c.(598-600)cCc>cTc p.P200L CLIC1_ENST00000375779.2_Missense_Mutation_p.P200L|CLIC1_ENST00000375784.3_Missense_Mutation_p.P200L|CLIC1_ENST00000395892.1_Missense_Mutation_p.P200L O00299 CLIC1_HUMAN chloride intracellular channel 1 200 GST C-terminal. signal transduction brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction protein binding|voltage-gated chloride channel activity central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1) 7 GAAGGCCTCGGGGATGGTGAA 0.572000 184 279 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145741395 145741395 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:145741395G>A ENST00000428558.2 - 5 1149 c.1108C>T c.(1108-1110)Cgt>Tgt p.R370C RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 370 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) AGCCTGCTACGGAGTGCCCGG 0.637000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 7 16 0 0 1 0 0 ACTN3 89 broad.mit.edu 37 11 66329733 66329733 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:66329733G>A ENST00000513398.1 + 0 2425 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 TACAGAAGCAGAATGGGATGA 0.592000 28 84 0 0 1 0 0 PLCH2 9651 broad.mit.edu 37 1 2428367 2428367 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:2428367C>T ENST00000449969.1 + 15 2114 c.1953C>T c.(1951-1953)ctC>ctT p.L651L PLCH2_ENST00000378486.3_Silent_p.L678L|PLCH2_ENST00000378488.3_Silent_p.L678L|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000419816.2_Silent_p.L678L|PLCH2_ENST00000378483.2_Intron O75038 PLCH2_HUMAN phospholipase C, eta 2 678 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytoplasm|plasma membrane calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1) 20 all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2) AGCAGCAGCTCTCCCGCATCT 0.637000 17 37 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43773150 43773150 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:43773150G>A ENST00000372476.3 + 6 899 c.820G>A c.(820-822)Ggc>Agc p.G274S TIE1_ENST00000441333.2_Missense_Mutation_p.G274S|TIE1_ENST00000538015.1_Missense_Mutation_p.G274S|TIE1_ENST00000433781.2_5'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 1 274 EGF-like 2. 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) GCAGTGCCCAGGCATATCAGG 0.632000 20 39 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82390765 82390765 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:82390765C>T ENST00000333891.8 - 23 15389 c.15052G>A c.(15052-15054)Gaa>Aaa p.E5018K NM_033026.5 NP_149015.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 4941 C2 2. 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 GTCTTCATTTCCTTCTTCAAT 0.313000 9 19 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1805505 1805505 + Missense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:1805505G>T ENST00000399161.2 - 23 3986 c.3239C>A c.(3238-3240)tCc>tAc p.S1080Y MYT1L_ENST00000428368.2_Missense_Mutation_p.S1078Y|MYT1L_ENST00000407844.1_Missense_Mutation_p.S76Y NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1080 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TTCCATCTGGGAATTGGATTC 0.343000 31 101 3.62531e-18 3.69198e-18 1 1 0 KNDC1 85442 broad.mit.edu 37 10 135000137 135000137 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:135000137C>T ENST00000304613.3 + 6 1306 c.1285C>T c.(1285-1287)Cca>Tca p.P429S KNDC1_ENST00000368572.2_Missense_Mutation_p.P429S|KNDC1_ENST00000368571.2_Missense_Mutation_p.P364S Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 429 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction p.P429S(1) NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) TGAGAGAATTCCAGAAGGAGC 0.662000 4 21 0 0 1 0 0 STARD8 9754 broad.mit.edu 37 X 67942004 67942004 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:67942004G>A ENST00000252336.6 + 10 2706 c.e10+1 STARD8_ENST00000374597.3_Splice_Site|STARD8_ENST00000374599.3_Splice_Site NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 ACTTTTCCAGGTGAGTAACCC 0.572000 10 5 0 0 1 0 0 FAM115C 285966 broad.mit.edu 37 7 143417196 143417196 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:143417196G>A ENST00000441159.2 + 3 1110 c.1044G>A c.(1042-1044)caG>caA p.Q348Q FAM115C_ENST00000444908.2_Silent_p.Q348Q|FAM115C_ENST00000357344.4_Silent_p.Q348Q|FAM115C_ENST00000411935.1_Silent_p.Q184Q|FAM115C_ENST00000411497.2_Silent_p.Q67Q|FAM115C_ENST00000409703.3_Silent_p.Q184Q|FAM115C_ENST00000425618.2_Silent_p.Q67Q A6NFQ2 F115C_HUMAN family with sequence similarity 115, member C 348 endometrium(2)|large_intestine(4)|lung(2)|prostate(1) 9 AGCAGCTGCAGGAGTTTGTGG 0.632000 16 50 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284281 159284281 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:159284281G>A ENST00000332217.5 - 1 168 c.169C>T c.(169-171)Cac>Tac p.H57Y NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) ATGGGGGTGTGAAGATGATGG 0.458000 42 89 0 0 1 0 0 TRAV40 28641 broad.mit.edu 37 14 22783267 22783267 + RNA SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:22783267G>T ENST00000390467.3 + 0 233 TTCGGAGGCGGAAATATTAAA 0.453000 34 47 4.39465e-27 4.4849e-27 1 1 0 NPC1L1 29881 broad.mit.edu 37 7 44560646 44560646 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:44560646G>A ENST00000289547.4 - 13 3080 c.3025C>T c.(3025-3027)Cat>Tat p.H1009Y NPC1L1_ENST00000381160.3_Missense_Mutation_p.H1009Y|NPC1L1_ENST00000546276.1_Missense_Mutation_p.H963Y NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 1009 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) AGATACTTATGGAACTGCTCC 0.557000 36 107 0 0 1 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217597 150217597 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:150217597G>A ENST00000313543.4 + 2 692 c.535G>A c.(535-537)Gaa>Aaa p.E179K NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 179 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGCAGAGAAGGAAAGTCAAGT 0.488000 16 39 0 0 1 0 0 MMP3 4314 broad.mit.edu 37 11 102710968 102710968 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:102710968G>A ENST00000299855.5 - 6 1062 c.806C>T c.(805-807)tCc>tTc p.S269F NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 269 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.S269F(1) endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) GGTCTCAGGGGAGTCAGGGGG 0.517000 20 59 0 0 1 0 0 PDYN 5173 broad.mit.edu 37 20 1963686 1963686 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:1963686G>A ENST00000217305.2 - 3 270 c.45C>T c.(43-45)ttC>ttT p.F15F RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000540134.1_Silent_p.F15F|PDYN_ENST00000539905.1_Silent_p.F15F NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 15 cell death|neuropeptide signaling pathway|synaptic transmission extracellular region|plasma membrane opioid peptide activity endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGTGGAGGGGAACATGAGGA 0.562000 17 31 0 0 1 0 0 LPPR1 54886 broad.mit.edu 37 9 104075196 104075196 + Silent SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:104075196G>T ENST00000374874.3 + 6 1192 c.753G>T c.(751-753)cgG>cgT p.R251R LPPR1_ENST00000395056.2_Silent_p.R251R NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 251 integral to membrane catalytic activity CTGAGTATCGGAACCACTGCT 0.557000 26 88 1.32003e-05 1.33241e-05 1 1 0 ANKRD28 23243 broad.mit.edu 37 3 15762438 15762438 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:15762438G>A ENST00000399451.2 - 8 1257 c.890C>T c.(889-891)gCc>gTc p.A297V ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.A330V NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 297 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 ATTGACATCGGCCCCATTGCC 0.353000 17 39 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70712649 70712649 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:70712649G>A ENST00000530196.1 - 0 1869 NR_003951.1 AAAGTAAAATGATCTTGGAGA 0.398000 15 40 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653325 159653325 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:159653325G>A ENST00000297267.9 + 11 1981 c.1781G>A c.(1780-1782)aGg>aAg p.R594K FNDC1_ENST00000340366.6_Missense_Mutation_p.R531K NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 594 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CTGCCCCGAAGGGAAGGCGTA 0.701000 6 7 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19452036 19452036 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:19452036C>T ENST00000396229.2 + 3 1425 c.676C>T c.(676-678)Ccc>Tcc p.P226S TMC5_ENST00000381414.4_Missense_Mutation_p.P226S|TMC5_ENST00000542583.2_Missense_Mutation_p.P226S|TMC5_ENST00000541464.1_Missense_Mutation_p.P226S NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 226 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GCCAGACTATCCCAGTGCTGA 0.463000 26 56 0 0 1 0 0 PARP2 10038 broad.mit.edu 37 14 20813132 20813132 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:20813132C>T ENST00000527915.1 + 2 93 c.88C>T c.(88-90)Cca>Tca p.P30S PARP2_ENST00000250416.5_Missense_Mutation_p.P30S|RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000429687.3_Missense_Mutation_p.P30S Q9UGN5 PARP2_HUMAN poly (ADP-ribose) polymerase 2 30 protein ADP-ribosylation nucleolus|nucleoplasm DNA binding|NAD+ ADP-ribosyltransferase activity central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1) 15 all_cancers(95;0.00092) all_lung(585;0.235) Epithelial(56;5.34e-07)|all cancers(55;3.7e-06) GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649) CAACACGGCTCCAGAAGACTC 0.418000 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 14 56 0 0 1 0 0 DENND1B 163486 broad.mit.edu 37 1 197704732 197704732 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:197704732G>A ENST00000235453.4 - 3 313 c.36C>T c.(34-36)ccC>ccT p.P12P DENND1B_ENST00000400967.2_Silent_p.P12P|DENND1B_ENST00000367396.3_Intron Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B 0 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 ATACAGGTTGGGGCCATCTTT 0.463000 10 27 0 0 1 0 0 ADRB2 154 broad.mit.edu 37 5 148207120 148207120 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:148207120C>T ENST00000305988.4 + 1 965 c.726C>T c.(724-726)gtC>gtT p.V242V NM_000024.5 NP_000015.1 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 242 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) GCTTCCATGTCCAGAACCTTA 0.552000 12 43 0 0 1 0 0 C22orf31 25770 broad.mit.edu 37 22 29454796 29454796 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:29454796C>T ENST00000216071.4 - 3 858 c.807G>A c.(805-807)agG>agA p.R269R NM_015370.1 NP_056185.1 O95567 CV031_HUMAN chromosome 22 open reading frame 31 269 cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 27 CTGGCTGCTTCCTGCCAGGGA 0.522000 33 71 0 0 1 0 0 SLC27A6 28965 broad.mit.edu 37 5 128368934 128368934 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:128368934G>A ENST00000262462.4 + 10 2829 c.1819G>A c.(1819-1821)Gaa>Aaa p.E607K SLC27A6_ENST00000395266.1_Missense_Mutation_p.E607K|SLC27A6_ENST00000506176.1_Missense_Mutation_p.E607K Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 607 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) ACTGACCAGGGAACTTTATGA 0.338000 7 17 0 0 1 0 0 CLEC14A 161198 broad.mit.edu 37 14 38724228 38724228 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:38724228G>A ENST00000342213.2 - 1 1346 c.1000C>T c.(1000-1002)Cct>Tct p.P334S NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 334 integral to membrane sugar binding breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 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;0.00439) TCTTGTTCAGGGACAAGTGGT 0.562000 19 72 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10404995 10404995 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:10404995C>T ENST00000226207.5 - 26 3358 c.3264G>A c.(3262-3264)gaG>gaA p.E1088E CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1088 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 TCATTTCAAACTCTTTCCTAT 0.358000 10 32 0 0 1 0 0 TCF7 6932 broad.mit.edu 37 5 133473817 133473817 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:133473817A>T ENST00000395029.1 + 4 704 c.509A>T c.(508-510)cAt>cTt p.H170L TCF7_ENST00000518915.1_Missense_Mutation_p.H55L|TCF7_ENST00000395023.1_Missense_Mutation_p.H55L|TCF7_ENST00000378560.4_Missense_Mutation_p.H55L|TCF7_ENST00000520958.1_Missense_Mutation_p.H55L|TCF7_ENST00000321584.4_Missense_Mutation_p.H170L|TCF7_ENST00000321603.6_Missense_Mutation_p.H170L|TCF7_ENST00000517478.1_3'UTR|TCF7_ENST00000432532.2_Missense_Mutation_p.H55L|TCF7_ENST00000342854.5_Missense_Mutation_p.H170L|TCF7_ENST00000378564.1_Missense_Mutation_p.H170L P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 170 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AACAGCCCACATCCCACCCCT 0.592000 14 30 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124211629 124211629 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:124211629C>T ENST00000360013.3 + 32 4853 c.4726C>T c.(4726-4728)Cga>Tga p.R1576* KALRN_ENST00000460856.1_Nonsense_Mutation_p.R1567*|KALRN_ENST00000240874.3_Nonsense_Mutation_p.R1576* NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1576 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CAAGAACATTCGAGAAGTGAT 0.463000 30 65 0 0 1 0 0 CD58 965 broad.mit.edu 37 1 117086949 117086949 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:117086949G>A ENST00000457047.2 - 2 401 c.348C>T c.(346-348)ttC>ttT p.F116F CD58_ENST00000369487.3_Silent_p.F116F|CD58_ENST00000369489.5_Silent_p.F116F NM_001144822.1 NP_001138294.1 P19256 LFA3_HUMAN CD58 molecule 116 blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) CATAAAGAAAGAACTTCATGG 0.338000 13 35 0 0 1 0 0 PLK1 5347 broad.mit.edu 37 16 23701189 23701189 + Silent SNP C C A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:23701189C>A ENST00000300093.4 + 10 1728 c.1617C>A c.(1615-1617)acC>acA p.T539T NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 539 Important for interaction with phosphorylated proteins (By similarity).|POLO box 2. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) AGGATCACACCAAGCTCATCT 0.562000 21 38 7.41877e-09 7.51573e-09 1 1 0 INSRR 3645 broad.mit.edu 37 1 156812213 156812213 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:156812213G>A ENST00000368195.3 - 18 3610 c.3214C>T c.(3214-3216)Cga>Tga p.R1072* NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 1072 Protein kinase. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGCAAAGATCGAAGATGGCTC 0.592000 28 68 0 0 1 0 0 RPSA 3921 broad.mit.edu 37 3 39449176 39449176 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:39449176A>G ENST00000301821.6 + 2 141 c.32A>G c.(31-33)aAg>aGg p.K11R RPSA_ENST00000443003.1_Missense_Mutation_p.K11R NM_001012321.1|NM_002295.4 NP_001012321.1|NP_002286.2 P08865 RSSA_HUMAN ribosomal protein SA 11 cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane protein binding|receptor activity|ribosome binding|structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064) ctgcaaatgaaggagGAGGAT 0.423000 10 20 0 0 1 0 0 OR51L1 119682 broad.mit.edu 37 11 5021041 5021041 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:5021041C>T ENST00000321543.1 + 1 829 c.829C>T c.(829-831)Ctc>Ttc p.L277F NM_001004755.1 NP_001004755.1 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, member 1 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1) 31 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) AGTCCACATCCTCATGGCAGA 0.453000 17 40 0 0 1 0 0 DQX1 165545 broad.mit.edu 37 2 74749796 74749796 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:74749796G>A ENST00000404568.3 - 8 1625 c.1406C>T c.(1405-1407)cCt>cTt p.P469L DQX1_ENST00000393951.2_Missense_Mutation_p.P469L NM_133637.2 NP_598376.2 Q8TE96 DQX1_HUMAN DEAQ box RNA-dependent ATPase 1 469 nucleus ATP binding|helicase activity|nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1) 18 AGGGGCCAGAGGGAATTCTGA 0.547000 51 135 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115856484 115856484 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:115856484G>A ENST00000264363.2 - 6 2092 c.1414C>T c.(1414-1416)Cct>Tct p.P472S NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 472 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity p.P472S(1) 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) GTCTGTCGAGGGAGGACCTGA 0.393000 6 28 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439483 145439483 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:145439483C>T ENST00000511217.1 + 8 1662 c.1610C>T c.(1609-1611)tCc>tTc p.S537F SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.S537F Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 537 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGGTAGGCTCCCTCAGACGC 0.627000 22 42 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181687219 181687219 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:181687219C>T ENST00000526775.1 + 12 1719 c.1554C>T c.(1552-1554)ctC>ctT p.L518L CACNA1E_ENST00000367573.2_Silent_p.L518L|CACNA1E_ENST00000358338.5_Silent_p.L469L|CACNA1E_ENST00000360108.3_Silent_p.L518L|CACNA1E_ENST00000357570.5_Silent_p.L469L|CACNA1E_ENST00000367570.1_Silent_p.L518L|CACNA1E_ENST00000367567.4_Silent_p.L125L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 518 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TTCTGGGACTCTTCCTCTTGG 0.468000 8 21 0 0 1 0 0 CPVL 54504 broad.mit.edu 37 7 29111997 29111997 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:29111997G>A ENST00000409850.1 - 12 1298 c.652C>T c.(652-654)Cat>Tat p.H218Y CPVL_ENST00000265394.5_Missense_Mutation_p.H218Y|CPVL_ENST00000396276.3_Missense_Mutation_p.H218Y Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 218 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 TTGAGGGAATGGATGAGGTGT 0.433000 13 33 0 0 1 0 0 NAP1L2 4674 broad.mit.edu 37 X 72433851 72433851 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:72433851C>T ENST00000373517.3 - 1 833 c.478G>A c.(478-480)Gaa>Aaa p.E160K NAP1L2_ENST00000536638.1_Missense_Mutation_p.E18K NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 160 Glu-rich (acidic). nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) TCTGTAGGTTCATAGATTGCA 0.383000 46 27 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142612657 142612657 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142612657G>A ENST00000265310.1 - 9 1552 c.1204C>T c.(1204-1206)Cta>Tta p.L402L NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 402 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) CTCACCTCTAGGAGCAGGATG 0.557000 14 31 0 0 1 0 0 C12orf40 283461 broad.mit.edu 37 12 40040211 40040211 + Missense_Mutation SNP A A C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:40040211A>C ENST00000324616.5 + 4 437 c.283A>C c.(283-285)Atg>Ctg p.M95L C12orf40_ENST00000405531.3_Missense_Mutation_p.M95L|C12orf40_ENST00000398716.1_Missense_Mutation_p.M18L NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 95 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 AGAACTTACAATGTCGCCTCA 0.318000 34 82 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29685510 29685510 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:29685510G>A ENST00000358273.4 + 55 8366 c.7983G>A c.(7981-7983)ttG>ttA p.L2661L NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Silent_p.L2640L|NF1_ENST00000444181.2_Silent_p.L454L NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2661 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) 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) ATAATTTGTTGGACTCTAAGA 0.343000 """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) 8 31 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35914025 35914025 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:35914025T>C ENST00000339208.6 - 14 1940 c.1800A>G c.(1798-1800)atA>atG p.I600M SYNRG_ENST00000345615.4_Missense_Mutation_p.I522M|SYNRG_ENST00000591288.1_Missense_Mutation_p.I439M|SYNRG_ENST00000585472.1_Missense_Mutation_p.I521M|SYNRG_ENST00000502449.2_Missense_Mutation_p.I522M|SYNRG_ENST00000346661.4_Missense_Mutation_p.I600M|SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000394378.2_Missense_Mutation_p.I522M NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 600 Interaction with A1P1G1 and A1P1G2. endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GTTTCTGTTGTATAGTTCCTG 0.398000 75 50 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9057220 9057220 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9057220G>A ENST00000397910.4 - 3 30429 c.30226C>T c.(30226-30228)Ctg>Ttg p.L10076L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10078 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGCCACTCAGATTTGGAGAT 0.473000 30 58 0 0 1 0 0 NOVA2 4858 broad.mit.edu 37 19 46443924 46443924 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:46443924G>A ENST00000263257.5 - 4 870 c.676C>T c.(676-678)Ccc>Tcc p.P226S NM_002516.2 NP_002507.1 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 226 nucleus RNA binding endometrium(3)|large_intestine(5)|lung(13) 21 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) GAGCCGGTGGGGTTGGAGTTG 0.726000 8 17 0 0 1 0 0 POLR3A 11128 broad.mit.edu 37 10 79750874 79750874 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:79750874G>A ENST00000372371.3 - 21 2976 c.2839C>T c.(2839-2841)Ctg>Ttg p.L947L NM_007055.3 NP_008986.2 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide A, 155kDa 947 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) TCTGTGGTCAGGATCAGCTCG 0.532000 16 31 0 0 1 0 0 GUCA1C 9626 broad.mit.edu 37 3 108627031 108627031 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:108627031G>A ENST00000393963.3 - 4 507 c.508C>T c.(508-510)Caa>Taa p.Q170* GUCA1C_ENST00000261047.3_Silent_p.I156I O95843 GUC1C_HUMAN guanylate cyclase activator 1C 0 signal transduction|visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1) 14 CCATGCCATTGATAAATTCTT 0.393000 17 12 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46252465 46252465 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:46252465C>T ENST00000510861.1 - 10 1389 c.1216G>A c.(1216-1218)Gaa>Aaa p.E406K GABRA2_ENST00000507069.1_Missense_Mutation_p.E466K|GABRA2_ENST00000514090.1_Missense_Mutation_p.E406K|GABRA2_ENST00000381620.4_Missense_Mutation_p.E406K|GABRA2_ENST00000356504.1_Missense_Mutation_p.E406K|GABRA2_ENST00000540012.1_Missense_Mutation_p.E411K P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 406 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTCTTTGCTTCAGCTGGCTTG 0.408000 59 155 0 0 1 0 0 THOC7 80145 broad.mit.edu 37 3 63823651 63823651 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:63823651C>T ENST00000295899.5 - 4 465 c.e4+1 C3orf49_ENST00000295896.8_Intron|THOC7_ENST00000498422.1_Splice_Site NM_025075.2 NP_079351.2 Q6I9Y2 THOC7_HUMAN THO complex 7 homolog (Drosophila) intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing cytoplasm|THO complex part of transcription export complex protein binding|RNA binding central_nervous_system(1)|large_intestine(1)|ovary(1)|pancreas(1) 4 BRCA - Breast invasive adenocarcinoma(55;0.000439)|Kidney(15;0.00194)|KIRC - Kidney renal clear cell carcinoma(15;0.00218) AAAACCCTTACCTTGGCGATT 0.358000 25 63 0 0 1 0 0 OR2H1 26716 broad.mit.edu 37 6 29430347 29430347 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:29430347G>A ENST00000377136.1 + 4 1266 c.801G>A c.(799-801)ggG>ggA p.G267G OR2H1_ENST00000442615.1_Silent_p.G267G|OR2H1_ENST00000377133.1_Silent_p.G267G|OR2H1_ENST00000396792.2_Silent_p.G267G|OR2H1_ENST00000473369.1_3'UTR|OR2H1_ENST00000377132.1_Silent_p.G267G Q9GZK4 OR2H1_HUMAN olfactory receptor, family 2, subfamily H, member 1 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(12) 17 ATGCCCAAGGGAGGGGCAAGT 0.527000 16 98 0 0 1 0 0 AIMP1 9255 broad.mit.edu 37 4 107253027 107253027 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:107253027T>C ENST00000394701.4 + 5 703 c.662T>C c.(661-663)gTt>gCt p.V221A AIMP1_ENST00000442366.1_Missense_Mutation_p.V197A|AIMP1_ENST00000358008.3_Missense_Mutation_p.V197A NM_001142416.1 NP_001135888.1 Q12904 AIMP1_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 197 tRNA-binding. angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1) 11 GTGAATCATGTTCCTCTTGAA 0.393000 45 79 0 0 1 0 0 RASEF 158158 broad.mit.edu 37 9 85607846 85607846 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:85607846C>T ENST00000376447.3 - 15 2275 c.2015G>A c.(2014-2016)gGg>gAg p.G672E NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 672 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TCCAAAGTGCCCTGGGACACA 0.483000 37 95 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92624224 92624224 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:92624224G>A ENST00000298047.6 + 27 13732 c.13715G>A c.(13714-13716)aGc>aAc p.S4572N FAT3_ENST00000533797.1_Missense_Mutation_p.S875N|FAT3_ENST00000409404.2_Missense_Mutation_p.S4540N|FAT3_ENST00000525166.1_Missense_Mutation_p.S4422N Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4572 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) GGAGAGCTCAGCCTCGCCAGC 0.517000 TCGA Ovarian(4;0.039) 110 340 0 0 1 0 0 RHOT2 89941 broad.mit.edu 37 16 720985 720985 + Missense_Mutation SNP C C T rs143577577 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:720985C>T ENST00000315082.4 + 10 847 c.733C>T c.(733-735)Cgg>Tgg p.R245W NM_138769.2 NP_620124.1 Q8IXI1 MIRO2_HUMAN ras homolog family member T2 245 R -> Q (in dbSNP:rs1139897). apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1) 13 Hepatocellular(780;0.0218) GCGGGAGGACCGGCTGACCCT 0.697000 5 8 0 0 1 0 0 CABIN1 23523 broad.mit.edu 37 22 24483528 24483528 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:24483528C>T ENST00000398319.2 + 23 3772 c.3387C>T c.(3385-3387)ttC>ttT p.F1129F CABIN1_ENST00000263119.5_Silent_p.F1129F|CABIN1_ENST00000405822.2_Silent_p.F1079F NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1129 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 TGAACTGCTTCCGTCGGGCCC 0.557000 16 40 0 0 1 0 0 G3BP2 9908 broad.mit.edu 37 4 76582156 76582156 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:76582156G>A ENST00000359707.4 - 5 1179 c.394C>T c.(394-396)Cgt>Tgt p.R132C G3BP2_ENST00000357854.3_Missense_Mutation_p.R132C|G3BP2_ENST00000395719.3_Missense_Mutation_p.R132C|G3BP2_ENST00000502654.1_5'UTR NM_203505.2 NP_987101.1 Q9UN86 G3BP2_HUMAN GTPase activating protein (SH3 domain) binding protein 2 132 NTF2. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TCTTCATAACGAAACATATCA 0.323000 35 95 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119510900 119510900 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:119510900C>T ENST00000368468.3 - 10 1916 c.1475G>A c.(1474-1476)gGc>gAc p.G492D NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 492 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) TTGGGCCATGCCTTCGGGAGC 0.532000 23 46 0 0 1 0 0 OR10T2 128360 broad.mit.edu 37 1 158369215 158369215 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:158369215G>A ENST00000334438.1 - 1 41 c.42C>T c.(40-42)atC>atT p.I14I NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) AACCCACCAGGATGAACTGTG 0.438000 13 31 0 0 1 0 0 PRRC1 133619 broad.mit.edu 37 5 126869366 126869366 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:126869366T>C ENST00000442138.2 + 6 955 c.809T>C c.(808-810)gTt>gCt p.V270A PRRC1_ENST00000512635.2_Missense_Mutation_p.V270A|PRRC1_ENST00000296666.8_Missense_Mutation_p.V270A Q96M27 PRRC1_HUMAN proline-rich coiled-coil 1 270 Golgi apparatus endometrium(1)|large_intestine(1)|lung(4) 6 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0851)|Epithelial(69;0.113) GAAGTAAAAGTTGCTGCTGTC 0.413000 39 71 0 0 1 0 0 APOBEC3H 164668 broad.mit.edu 37 22 39497401 39497401 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:39497401C>T ENST00000442487.3 + 3 437 c.310C>T c.(310-312)Ctg>Ttg p.L104L APOBEC3H_ENST00000401756.1_Silent_p.L104L|APOBEC3H_ENST00000348946.4_Silent_p.L104L|APOBEC3H_ENST00000421988.2_Silent_p.L104L NM_181773.3 NP_861438.2 Q6NTF7 ABC3H_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H 104 DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition cytoplasm|nucleus cytidine deaminase activity|zinc ion binding central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Melanoma(58;0.04) CCATCTGAACCTGGGCATCTT 0.612000 16 38 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22206747 22206747 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:22206747G>A ENST00000344041.6 - 12 1077 c.765C>T c.(763-765)ttC>ttT p.F255F RAPGEF5_ENST00000401957.2_Silent_p.F105F NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 105 nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 ACGTGAGAAGGAAGTCATCCA 0.458000 5 19 0 0 1 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895547 24895547 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:24895547C>T ENST00000382071.2 + 4 728 c.643C>T c.(643-645)Cct>Tct p.P215S AL359736.1_ENST00000422229.2_Missense_Mutation_p.G7E|C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.P215S P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 215 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GAGCAAGTTTCCTTCTTCAGA 0.458000 4 29 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589646 140589646 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140589646C>T ENST00000239450.2 + 1 1356 c.1167C>T c.(1165-1167)atC>atT p.I389I PCDHB12_ENST00000541609.1_Silent_p.I52I NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 389 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.I389I(1) NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGAGGACATCCCATTCGTGC 0.473000 15 35 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176008431 176008431 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:176008431G>A ENST00000510636.1 + 17 2180 c.1906G>A c.(1906-1908)Gac>Aac p.D636N CDHR2_ENST00000506348.1_Missense_Mutation_p.D636N|CDHR2_ENST00000261944.5_Missense_Mutation_p.D636N NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 636 Cadherin 6. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 CTTCTCCTTGGACCCTGACAC 0.617000 10 26 0 0 1 0 0 ZNF99 7652 broad.mit.edu 37 19 22940264 22940264 + Missense_Mutation SNP G G A rs74170740 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:22940264G>A ENST00000397104.3 - 5 2173 c.2174C>T c.(2173-2175)tCc>tTc p.S725F ZNF99_ENST00000596209.1_Missense_Mutation_p.S816F zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACATTTGTAGGATTTCTCTCC 0.348000 6 16 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61965609 61965609 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:61965609G>A ENST00000280772.1 - 11 1425 c.1234C>T c.(1234-1236)Cga>Tga p.R412* ANK3_ENST00000503366.1_Nonsense_Mutation_p.R395*|ANK3_ENST00000373827.2_Nonsense_Mutation_p.R406* NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 412 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 ACTTTAATTCGATTCTTCTTG 0.423000 10 26 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84559419 84559419 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:84559419A>G ENST00000262753.4 - 14 1641 c.1496T>C c.(1495-1497)tTc>tCc p.F499S POF1B_ENST00000373145.3_Missense_Mutation_p.F499S NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 499 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 CTTAAATTGGAAGTCACTACA 0.358000 7 8 0 0 1 0 0 LAYN 143903 broad.mit.edu 37 11 111426001 111426001 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:111426001T>A ENST00000436913.2 + 4 610 c.209T>A c.(208-210)tTt>tAt p.F70Y LAYN_ENST00000533265.1_Missense_Mutation_p.F215Y|LAYN_ENST00000375614.2_Missense_Mutation_p.F215Y|LAYN_ENST00000375615.3_Missense_Mutation_p.F223Y|LAYN_ENST00000528924.1_3'UTR|LAYN_ENST00000525126.1_Missense_Mutation_p.F223Y NM_001258391.1 NP_001245320.1 Q6UX15 LAYN_HUMAN layilin 223 C-type lectin. cell surface|integral to membrane|ruffle hyaluronic acid binding|sugar binding breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1) 14 all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086) Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476) AAAAAAACATTTAAAGAAAGT 0.403000 11 14 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140641034 140641034 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:140641034C>T ENST00000509479.2 - 5 3716 c.2860G>A c.(2860-2862)Gga>Aga p.G954R MGST2_ENST00000515137.1_Intron NM_018717.4 NP_061187.2 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 950 Gln-rich. Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) TGGACTGTTCCCATAAGGCTC 0.577000 24 81 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6694466 6694466 + Missense_Mutation SNP C C T rs146026441 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:6694466C>T ENST00000245907.6 - 24 3222 c.3130G>A c.(3130-3132)Ggg>Agg p.G1044R NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1044 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TCCAAGGCCCCCTGCCGCTTC 0.612000 21 42 0 0 1 0 0 SNRNP48 154007 broad.mit.edu 37 6 7601599 7601599 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:7601599C>T ENST00000342415.5 + 5 496 c.437C>T c.(436-438)cCt>cTt p.P146L NM_152551.3 NP_689764.3 Q6IEG0 SNR48_HUMAN small nuclear ribonucleoprotein 48kDa (U11/U12) 146 mRNA processing cytoplasm|U12-type spliceosomal complex metal ion binding kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GTTGAAGTTCCTTTGAATCAC 0.323000 19 59 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16945591 16945591 + RNA SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:16945591G>A ENST00000412962.1 - 0 1928 CTCCTTCAGAGACAAGGCCTG 0.602000 27 380 0 0 1 0 0 BSND 7809 broad.mit.edu 37 1 55474167 55474167 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:55474167G>A ENST00000371265.4 + 4 1083 c.829G>A c.(829-831)Gag>Aag p.E277K NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 277 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 AAAGGTGGAGGAGAAGGAGGC 0.597000 12 24 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31776024 31776024 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:31776024G>A ENST00000543095.2 - 31 5064 c.4880C>T c.(4879-4881)tCc>tTc p.S1627F HEATR5A_ENST00000439348.1_Missense_Mutation_p.S1621F|HEATR5A_ENST00000439727.1_Missense_Mutation_p.S1334F|HEATR5A_ENST00000389961.3_Missense_Mutation_p.S1621F NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1621 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CAACTGAATGGAAGGTGATTC 0.383000 7 24 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6463994 6463994 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:6463994C>T ENST00000358945.3 - 6 1604 c.1164G>A c.(1162-1164)ggG>ggA p.G388G SCNN1A_ENST00000543768.1_Silent_p.G411G|SCNN1A_ENST00000396966.2_Silent_p.G388G|SCNN1A_ENST00000540037.1_Silent_p.G88G|SCNN1A_ENST00000360168.3_Silent_p.G447G|SCNN1A_ENST00000228916.2_Silent_p.G388G|SCNN1A_ENST00000538979.1_5'UTR P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 388 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) CATAATCGCCCCCAAGTCTGT 0.522000 29 85 0 0 1 0 0 PGM2 55276 broad.mit.edu 37 4 37848881 37848881 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:37848881G>A ENST00000381967.4 + 10 1347 c.1247G>A c.(1246-1248)gGg>gAg p.G416E PGM2_ENST00000544359.1_Missense_Mutation_p.G277E|PGM2_ENST00000537241.1_Missense_Mutation_p.G256E NM_018290.3 NP_060760.2 Q96G03 PGM2_HUMAN phosphoglucomutase 2 416 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 19 ATAGACCAGGGGAAAACTGTT 0.383000 6 27 0 0 1 0 0 TXNRD3NB 645840 broad.mit.edu 37 3 126291310 126291310 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:126291310C>T ENST00000383572.2 - 3 555 c.77G>A c.(76-78)aGg>aAg p.R26K TXNRD3NB_ENST00000404489.2_Missense_Mutation_p.R26K NM_001039783.1 NP_001034872.1 Q6F5E7 TR3N_HUMAN thioredoxin reductase 3 neighbor 26 endometrium(1)|large_intestine(2)|skin(2) 5 CAATCGTGCCCTCACAGGCTC 0.602000 10 35 0 0 1 0 0 IGKV1D-8 28904 broad.mit.edu 37 2 90259788 90259788 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:90259788C>T ENST00000471857.1 + 0 196 ACATGAGGGTCCCCGCTCAGC 0.552000 39 48 0 0 1 0 0 IGFBP1 3484 broad.mit.edu 37 7 45930215 45930215 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:45930215C>T ENST00000275525.3 + 2 714 c.418C>T c.(418-420)Ctg>Ttg p.L140L IGFBP1_ENST00000457280.1_Silent_p.L140L|IGFBP1_ENST00000468955.1_Silent_p.L140L NM_000596.2 NP_000587.1 P08833 IBP1_HUMAN insulin-like growth factor binding protein 1 140 extracellular space insulin-like growth factor binding large_intestine(2)|lung(4) 6 TAATTTCCATCTGATGGCCCC 0.512000 OREG0018048 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 75 0 0 1 0 0 ONECUT1 3175 broad.mit.edu 37 15 53081035 53081035 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:53081035C>T ENST00000305901.5 - 1 1174 c.1047G>A c.(1045-1047)agG>agA p.R349R ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 349 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) ACTTCCACATCCTCCGGAAGG 0.662000 11 35 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57333110 57333110 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:57333110C>T ENST00000326441.9 - 7 941 c.578G>A c.(577-579)cGg>cAg p.R193Q PEG3_ENST00000423103.2_Missense_Mutation_p.R193Q|ZIM2_ENST00000601070.1_Missense_Mutation_p.R68Q|PEG3_ENST00000593695.1_Missense_Mutation_p.R67Q|ZIM2_ENST00000391708.3_Missense_Mutation_p.R68Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.R68Q|ZIM2_ENST00000593711.1_Missense_Mutation_p.R68Q|PEG3_ENST00000598410.1_Missense_Mutation_p.R68Q|ZIM2_ENST00000599935.1_Missense_Mutation_p.R68Q NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 193 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) GGAAAGATCCCGCGGAGGCAT 0.542000 19 87 0 0 1 0 0 CLTC 1213 broad.mit.edu 37 17 57733268 57733268 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:57733268C>T ENST00000269122.3 + 6 1123 c.849C>T c.(847-849)caC>caT p.H283H CLTC_ENST00000393043.1_Silent_p.H283H|CLTC_ENST00000579456.1_Intron NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 283 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) GTTATATCCACCTCTATGATC 0.358000 T """ALK, TFE3""" """ALCL, renal """ 46 86 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7470658 7470658 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:7470658G>A ENST00000399422.4 + 5 849 c.801G>A c.(799-801)tgG>tgA p.W267* NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 267 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 ATATCATATGGAATATGTCTG 0.418000 22 34 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67066489 67066489 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:67066489G>A ENST00000315962.4 + 9 1817 c.1444G>A c.(1444-1446)Gca>Aca p.A482T TRIM55_ENST00000276573.7_Missense_Mutation_p.A482T|TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 482 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TGTACGGAAGGCAGAAGTGGC 0.567000 6 34 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39227656 39227656 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:39227656C>T ENST00000340369.3 - 2 3509 c.3281G>A c.(3280-3282)cGg>cAg p.R1094Q XIRP1_ENST00000396251.1_Missense_Mutation_p.R1094Q|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1094 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) CCCAGCTTTCCGAAGACCGTC 0.592000 24 70 0 0 1 0 0 PCDH18 54510 broad.mit.edu 37 4 138452985 138452985 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:138452985G>A ENST00000344876.4 - 1 644 c.258C>T c.(256-258)atC>atT p.I86I PCDH18_ENST00000412923.2_Silent_p.I86I|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 86 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) CCCCTATGCTGATTTCCCCAT 0.433000 33 110 0 0 1 0 0 KRTAP4-2 85291 broad.mit.edu 37 17 39334108 39334108 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:39334108G>A ENST00000377726.2 - 1 352 c.309C>T c.(307-309)ccC>ccT p.P103P NM_033062.3 NP_149051.1 Q9BYR5 KRA42_HUMAN keratin associated protein 4-2 103 20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ]. keratin filament kidney(2)|lung(4)|upper_aerodigestive_tract(1) 7 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GGCCACAGCTGGGGCGGCAGC 0.662000 32 69 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75003703 75003703 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:75003703C>T ENST00000373359.2 - 1 1376 c.1184G>A c.(1183-1185)aGc>aAc p.S395N NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 395 MAGE 2. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCTCCCCAGGCTCTCTAGCAT 0.478000 38 43 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152768620 152768620 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:152768620G>A ENST00000367255.5 - 29 4243 c.3642C>T c.(3640-3642)ttC>ttT p.F1214F SYNE1_ENST00000367253.4_Silent_p.F1214F|SYNE1_ENST00000341594.5_Silent_p.F1280F|SYNE1_ENST00000367248.3_Silent_p.F1204F|SYNE1_ENST00000448038.1_Silent_p.F1221F|SYNE1_ENST00000265368.4_Silent_p.F1214F|SYNE1_ENST00000413186.2_Silent_p.F1214F|SYNE1_ENST00000423061.1_Silent_p.F1221F NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1214 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CAAGAGCCTTGAAAGAGCTGG 0.453000 HNSCC(10;0.0054) 11 26 0 0 1 0 0 MEFV 4210 broad.mit.edu 37 16 3298933 3298933 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:3298933C>T ENST00000219596.1 - 4 1371 c.1332G>A c.(1330-1332)ggG>ggA p.G444G MEFV_ENST00000541159.1_Silent_p.G233G|MEFV_ENST00000339854.4_Silent_p.G264G|MEFV_ENST00000536379.1_Silent_p.G233G NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 444 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCTTCTCCTCCCCATAGGATC 0.527000 35 102 0 0 1 0 0 ALG3 10195 broad.mit.edu 37 3 183962449 183962449 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:183962449G>A ENST00000455059.1 - 5 1000 c.546C>T c.(544-546)ctC>ctT p.L182L ALG3_ENST00000418734.2_Silent_p.L166L|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Silent_p.L222L|ALG3_ENST00000445626.2_Silent_p.L174L Q92685 ALG3_HUMAN ALG3, alpha-1,3- mannosyltransferase 222 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane alpha-1,3-mannosyltransferase activity kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1) 9 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ACTGTGTGAGGAGAAGAAACA 0.567000 9 16 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127671215 127671215 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:127671215G>A ENST00000508053.1 - 35 4753 c.3779C>T c.(3778-3780)tCa>tTa p.S1260L FBN2_ENST00000507835.1_Missense_Mutation_p.S110L|FBN2_ENST00000508989.1_Missense_Mutation_p.S1227L|FBN2_ENST00000262464.4_Missense_Mutation_p.S1260L P35556 FBN2_HUMAN fibrillin 2 1260 EGF-like 19; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GCTTCCCTCTGAATTTGTGCA 0.453000 32 78 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39505881 39505881 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:39505881G>A ENST00000265707.5 + 12 1110 c.1065G>A c.(1063-1065)aaG>aaA p.K355K ADAM18_ENST00000379866.1_Silent_p.K331K|ADAM18_ENST00000541111.1_Intron NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 355 Peptidase M12B. 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) GTGGTAGAAAGATTTTTAGCA 0.333000 12 28 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30694696 30694696 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:30694696C>T ENST00000471646.1 - 11 1471 c.1053_splice c.e11-1 p.G352_splice CRHR2_ENST00000348438.4_Splice_Site_p.G379_splice|CRHR2_ENST00000341843.4_Splice_Site_p.G338_splice|CRHR2_ENST00000506074.2_Splice_Site_p.G352_splice NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 352 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ACGAAGAAACCCTGGAAAGGA 0.592000 6 15 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221551 140221551 + Silent SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140221551A>T ENST00000531613.1 + 1 645 c.645A>T c.(643-645)acA>acT p.T215T PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.T215T|PCDHA6_ENST00000527624.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACAGCCACAGATGGGGGCA 0.478000 19 53 0 0 1 0 0 MUC1 4582 broad.mit.edu 37 1 155159801 155159801 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:155159801G>A ENST00000368395.1 - 7 1324 c.1253C>T c.(1252-1254)cCa>cTa p.P418L MUC1_ENST00000368392.3_Missense_Mutation_p.P207L|MUC1_ENST00000368398.3_Missense_Mutation_p.P173L|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000342482.4_Missense_Mutation_p.P109L|MUC1_ENST00000438413.1_Missense_Mutation_p.P172L|MUC1_ENST00000343256.5_Missense_Mutation_p.P146L|MUC1_ENST00000457295.2_Missense_Mutation_p.P207L|MUC1_ENST00000368389.2_Missense_Mutation_p.P111L|MUC1_ENST00000338684.5_Missense_Mutation_p.P167L|MUC1_ENST00000368390.3_Missense_Mutation_p.P198L|MUC1_ENST00000368393.3_Silent_p.S175S|MUC1_ENST00000368396.4_Missense_Mutation_p.P102L|MUC1_ENST00000337604.5_Missense_Mutation_p.P216L NM_001204285.1|NM_001204286.1 NP_001191214.1|NP_001191215.1 P15941 MUC1_HUMAN mucin 1, cell surface associated 1198 42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R. apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus protein binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2) 10 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ATCCCGGGCTGGAAAGATGTC 0.597000 T IGH@ B-NHL 24 73 0 0 1 0 0 COPZ2 51226 broad.mit.edu 37 17 46110637 46110637 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:46110637G>A ENST00000006101.4 - 5 293 c.294C>T c.(292-294)atC>atT p.I98I COPZ2_ENST00000584666.1_5'UTR NM_016429.2 NP_057513.1 Q9P299 COPZ2_HUMAN coatomer protein complex, subunit zeta 2 100 intracellular protein transport|vesicle-mediated transport cis-Golgi network|COPI vesicle coat lung(3)|upper_aerodigestive_tract(1) 4 TCTTGTAGACGATGGTCATAC 0.517000 10 6 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151970854 151970854 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:151970854G>A ENST00000355193.2 - 7 1166 c.948C>T c.(946-948)acC>acT p.T316T KMT2C_ENST00000262189.6_Silent_p.T316T lysine (K)-specific methyltransferase 2C AATCCTGAAAGGTGCCGGCTC 0.433000 8 158 0 0 1 0 0 FKTN 2218 broad.mit.edu 37 9 108380335 108380335 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:108380335C>T ENST00000223528.2 + 8 1130 c.1006C>T c.(1006-1008)Cag>Tag p.Q336* FKTN_ENST00000602661.1_Nonsense_Mutation_p.Q336*|FKTN_ENST00000448551.2_Nonsense_Mutation_p.Q336*|FKTN_ENST00000357998.5_Nonsense_Mutation_p.Q336*|FKTN_ENST00000540160.1_Intron NM_006731.2 NP_006722.2 O75072 FKTN_HUMAN fukutin 336 muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus transferase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 25 TTTAGCATTTCAGGATGCAGG 0.328000 9 14 0 0 1 0 0 C6orf25 80739 broad.mit.edu 37 6 31691504 31691504 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:31691504C>T ENST00000375809.3 + 2 161 c.150C>T c.(148-150)ttC>ttT p.F50F C6orf25_ENST00000375810.4_Silent_p.F50F|C6orf25_ENST00000480039.1_Silent_p.F50F|C6orf25_ENST00000375805.2_Silent_p.F50F NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 50 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 CACCCAGCTTCCCGGCCTGCA 0.692000 65 202 0 0 1 0 0 RPH3AL 9501 broad.mit.edu 37 17 177309 177309 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:177309C>T ENST00000323434.8 - 3 623 c.26G>A c.(25-27)gGg>gAg p.G9E RPH3AL_ENST00000536489.2_Missense_Mutation_p.G9E|RPH3AL_ENST00000331302.7_Missense_Mutation_p.G9E NM_001190412.1 NP_001177341.1 Q9UNE2 RPH3L_HUMAN rabphilin 3A-like (without C2 domains) 9 exocytosis|intracellular protein transport transport vesicle membrane cytoskeletal protein binding|Rab GTPase binding|zinc ion binding NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107) CTGATCATTCCCGCTGCCGAA 0.617000 13 27 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 160049592 160049592 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:160049592C>T ENST00000327245.5 - 14 2467 c.1620_splice c.e14-1 p.E541_splice CTC-348L5.1_ENST00000523598.1_RNA NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 541 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACATCTTTTTCCTGGAAGAGA 0.493000 15 28 0 0 1 0 0 GDAP1L1 78997 broad.mit.edu 37 20 42893196 42893196 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:42893196G>A ENST00000342560.5 + 5 845 c.757G>A c.(757-759)Gag>Aag p.E253K GDAP1L1_ENST00000537864.1_Missense_Mutation_p.E61K NM_001256737.1|NM_024034.4 NP_001243666.1|NP_076939.3 Q96MZ0 GD1L1_HUMAN ganglioside induced differentiation associated protein 1-like 1 253 GST C-terminal. endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1) 18 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GCTGGAGAACGAGGGTGGGTG 0.602000 27 28 0 0 1 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808204 18808204 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:18808204C>T ENST00000400664.1 + 1 781 c.729C>T c.(727-729)tcC>tcT p.S243S NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 243 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGGCTGCCTCCGATGTTGACC 0.587000 14 47 0 0 1 0 0 VSX2 338917 broad.mit.edu 37 14 74706502 74706502 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:74706502G>A ENST00000261980.2 + 1 328 c.238G>A c.(238-240)Ggg>Agg p.G80R NM_182894.2 NP_878314.1 P58304 VSX2_HUMAN visual system homeobox 2 80 Pro-rich. multicellular organismal development|response to stimulus|visual perception nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00154) GGGGCTTCTGGGGCCCGGGGG 0.736000 5 9 0 0 1 0 0 ECEL1 9427 broad.mit.edu 37 2 233346276 233346276 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:233346276G>A ENST00000304546.1 - 14 2139 c.1929C>T c.(1927-1929)ttC>ttT p.F643F ECEL1_ENST00000409941.1_Silent_p.F641F NM_004826.2 NP_004817.2 O95672 ECEL1_HUMAN endothelin converting enzyme-like 1 643 neuropeptide signaling pathway|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCTTTCGCAGGAAGCGGCTGT 0.632000 12 22 0 0 1 0 0 F11 2160 broad.mit.edu 37 4 187209661 187209661 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:187209661G>A ENST00000264692.4 + 15 1948 c.1615G>A c.(1615-1617)Ggc>Agc p.G539S RP11-215A19.1_ENST00000505103.1_RNA|F11_ENST00000403665.2_Missense_Mutation_p.G591S P03951 FA11_HUMAN coagulation factor XI 591 Peptidase S1. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GCATCTGGTAGGCATCACGAG 0.552000 32 48 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220160504 220160504 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:220160504C>T ENST00000366923.3 - 20 3287 c.3018G>A c.(3016-3018)caG>caA p.Q1006Q NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 1006 glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TCTTAGGCCCCTGCCCTTCTC 0.393000 22 101 0 0 1 0 0 RBP4 5950 broad.mit.edu 37 10 95360152 95360152 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:95360152C>T ENST00000371467.1 - 4 672 c.353G>A c.(352-354)gGa>gAa p.G118E RBP4_ENST00000371469.2_Missense_Mutation_p.G116E|FFAR4_ENST00000604414.1_Intron|RBP4_ENST00000371464.3_Missense_Mutation_p.G118E P02753 RET4_HUMAN retinol binding protein 4, plasma 118 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding large_intestine(1)|lung(3)|skin(1) 5 Colorectal(252;0.122) Vitamin A(DB00162) CTACTCACTTCCTTTCTGGAG 0.557000 12 61 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95480984 95480984 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:95480984G>A ENST00000356884.6 - 5 2010 c.1943C>T c.(1942-1944)aCc>aTc p.T648I BICD2_ENST00000375512.3_Missense_Mutation_p.T648I NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 648 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 CAGCTCCGTGGTGCGGTCCAC 0.612000 56 130 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132396488 132396488 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:132396488C>T ENST00000321867.4 + 13 1301 c.948_splice c.e13-1 p.S317_splice NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 317 Interaction with GABARAP and GABARAPL2. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) GACTCTCAGTCCCTGGGCGAG 0.637000 6 32 0 0 1 0 0 STXBP3 6814 broad.mit.edu 37 1 109342872 109342872 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:109342872G>A ENST00000370008.3 + 17 1530 c.1480G>A c.(1480-1482)Gaa>Aaa p.E494K NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 494 negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) AGATTCAAAAGAATGGCCATA 0.348000 16 40 0 0 1 0 0 OR51S1 119692 broad.mit.edu 37 11 4869718 4869718 + Missense_Mutation SNP G G A rs115882083 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:4869718G>A ENST00000322101.2 - 1 796 c.721C>T c.(721-723)Cgc>Tgc p.R241C MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004758.1 NP_001004758.1 Q8NGJ8 O51S1_HUMAN olfactory receptor, family 51, subfamily S, member 1 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19) GCCTTCCAGCGATCCTCTCTG 0.522000 18 41 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14769633 14769633 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:14769633G>A ENST00000261170.3 - 25 3040 c.2904C>T c.(2902-2904)acC>acT p.T968T RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 968 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 breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 GGATGGCTATGGTGGAGCCAC 0.418000 36 71 0 0 1 0 0 OR8B12 219858 broad.mit.edu 37 11 124413290 124413290 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:124413290C>T ENST00000306842.2 - 1 285 c.261G>A c.(259-261)agG>agA p.R87R NM_001005195.1 NP_001005195.1 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, member 12 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TGATGTTCTTCCTTGAGACAA 0.433000 19 25 0 0 1 0 0 ERN1 2081 broad.mit.edu 37 17 62121504 62121504 + Silent SNP G G A rs8077780 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:62121504G>A ENST00000433197.2 - 22 2873 c.2778C>T c.(2776-2778)ccC>ccT p.P926P NM_001433.3 NP_001424.3 O75460 ERN1_HUMAN endoplasmic reticulum to nucleus signaling 1 926 KEN. activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to endoplasmic reticulum membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1) 9 CGAAGTCGTCGGGGAGGGACC 0.597000 15 90 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54799122 54799122 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:54799122C>T ENST00000293379.4 - 12 1314 c.1053G>A c.(1051-1053)atG>atA p.M351I RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 351 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 GGGTCCGATCCATGAGCAGGG 0.647000 13 15 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344963 53344963 + Missense_Mutation SNP T T G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:53344963T>G ENST00000595646.1 - 4 704 c.584A>C c.(583-585)aAt>aCt p.N195T ZNF468_ENST00000390651.4_Missense_Mutation_p.N142T|ZNF468_ENST00000396409.4_Missense_Mutation_p.N142T|ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron Q5VIY5 ZN468_HUMAN zinc finger protein 468 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) ATGGAGGGAATTATTTCCATA 0.343000 14 109 0 0 1 0 0 GIGYF2 26058 broad.mit.edu 37 2 233660913 233660913 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:233660913C>T ENST00000373566.3 + 15 1884 c.1687C>T c.(1687-1689)Cct>Tct p.P563S GIGYF2_ENST00000409196.3_Missense_Mutation_p.P535S|GIGYF2_ENST00000452341.2_Missense_Mutation_p.P372S|GIGYF2_ENST00000409480.1_Missense_Mutation_p.P563S|GIGYF2_ENST00000409547.1_Missense_Mutation_p.P541S|GIGYF2_ENST00000409451.3_Missense_Mutation_p.P562S|GIGYF2_ENST00000373563.4_Missense_Mutation_p.P541S Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 541 GYF.|Required for GRB10-binding (By similarity). cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TTACAAAGATCCTCAGGGAGA 0.383000 19 42 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32190842 32190842 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:32190842G>A ENST00000375023.3 - 2 233 c.95C>T c.(94-96)cCa>cTa p.P32L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 32 EGF-like 1. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ACAGGGTTCTGGGAAACTCCC 0.607000 61 221 0 0 1 0 0 NPAP1 23742 broad.mit.edu 37 15 24922342 24922342 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:24922342C>T ENST00000329468.2 + 1 1802 c.1328C>T c.(1327-1329)cCa>cTa p.P443L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTATCCCTCCACTTTCCACC 0.527000 21 50 0 0 1 0 0 CYP2A6 1548 broad.mit.edu 37 19 41355778 41355778 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:41355778C>T ENST00000301141.5 - 2 308 c.288G>A c.(286-288)gaG>gaA p.E96E CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753.3 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 96 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) CGCTGAACTCCTCAGCCTGGT 0.642000 14 53 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179481221 179481221 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:179481221C>T ENST00000589042.1 - 257 48521 c.48297G>A c.(48295-48297)cgG>cgA p.R16099R TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.R7226R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R13531R|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.R14458R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.R7034R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.R7159R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14458 Ig-like 99. 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) TCCATGTTTTCCGGCTGACTT 0.428000 71 69 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110510723 110510723 + Silent SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:110510723T>C ENST00000378402.5 + 66 10736 c.10632T>C c.(10630-10632)ttT>ttC p.F3544F NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3544 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) GCCCTGGGTTTAATTGCTCTG 0.373000 HNSCC(38;0.096) 12 48 0 0 1 0 0 TTC39A 22996 broad.mit.edu 37 1 51760091 51760091 + Missense_Mutation SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:51760091T>C ENST00000447632.2 - 14 1394 c.1346A>G c.(1345-1347)aAc>aGc p.N449S TTC39A_ENST00000530004.1_Missense_Mutation_p.N57S|TTC39A_ENST00000413473.2_Missense_Mutation_p.N417S|TTC39A_ENST00000371750.5_Missense_Mutation_p.N414S|TTC39A_ENST00000451380.1_Missense_Mutation_p.N413S|TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000262675.7_Missense_Mutation_p.N386S Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A 449 binding p.0?(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1) 17 CGAGATAGGGTTGGAGGAGAA 0.582000 14 21 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20790163 20790163 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:20790163C>T ENST00000359062.3 + 9 2171 c.2131C>T c.(2131-2133)Ctt>Ttt p.L711F PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 711 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGGCCGTATTCTTAGTCAGGT 0.328000 11 17 0 0 1 0 0 PHF20 51230 broad.mit.edu 37 20 34451086 34451086 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:34451086C>T ENST00000374012.3 + 6 701 c.572C>T c.(571-573)cCc>cTc p.P191L PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.P191L Q9BVI0 PHF20_HUMAN PHD finger protein 20 191 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) GAAAAGCGACCCAAGCAGCCT 0.383000 47 60 0 0 1 0 0 FAM120B 84498 broad.mit.edu 37 6 170627021 170627021 + Missense_Mutation SNP T T G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:170627021T>G ENST00000476287.1 + 2 651 c.543T>G c.(541-543)gaT>gaG p.D181E FAM120B_ENST00000540480.1_Missense_Mutation_p.D193E|FAM120B_ENST00000537664.1_Missense_Mutation_p.D204E|FAM120B_ENST00000252510.9_Intron NM_032448.1 NP_115824.1 Q96EK7 F120B_HUMAN family with sequence similarity 120B 181 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2) 44 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) AAGACACTGATTACCTAATCT 0.488000 25 69 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142612060 142612060 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142612060C>T ENST00000265310.1 - 11 1791 c.1443G>A c.(1441-1443)atG>atA p.M481I NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 481 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity p.M481I(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CCTTCTGGATCATGATGGTGA 0.552000 12 46 0 0 1 0 0 MOB3C 148932 broad.mit.edu 37 1 47075344 47075344 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:47075344C>T ENST00000371940.1 - 3 3777 c.703G>A c.(703-705)Gag>Aag p.E235K MKNK1_ENST00000545730.1_Intron|MOB3C_ENST00000271139.8_Missense_Mutation_p.E264K|MOB3C_ENST00000319928.3_Missense_Mutation_p.E212K Q70IA8 MOL2C_HUMAN MOB kinase activator 3C 212 metal ion binding p.E264Q(1) CAGATCCGCTCTGTCATCTCC 0.557000 14 31 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10480106 10480106 + Missense_Mutation SNP T T G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:10480106T>G ENST00000382483.3 - 2 829 c.606A>C c.(604-606)aaA>aaC p.K202N RP1L1_ENST00000329335.3_5'UTR NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 202 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGCCTACCTTTTTCCCGCTGG 0.483000 50 131 0 0 1 0 0 WDR35 57539 broad.mit.edu 37 2 20146266 20146266 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:20146266G>A ENST00000345530.3 - 16 1738 c.1623C>T c.(1621-1623)tcC>tcT p.S541S WDR35_ENST00000281405.4_Silent_p.S530S|WDR35_ENST00000416055.2_Silent_p.S106S NM_001006657.1 NP_001006658.1 Q9P2L0 WDR35_HUMAN WD repeat domain 35 541 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GACAATTAAGGGAATATTTTT 0.378000 21 52 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541939 55541939 + Missense_Mutation SNP G G C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:55541939G>C ENST00000220676.1 + 4 5645 c.5497G>C c.(5497-5499)Gac>Cac p.D1833H NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1833 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTTTCATGAGGACTTGCTGGA 0.428000 11 20 0 0 1 0 0 SUSD4 55061 broad.mit.edu 37 1 223396630 223396630 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:223396630C>T ENST00000343846.3 - 7 2038 c.1405G>A c.(1405-1407)Gag>Aag p.E469K SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366878.4_Missense_Mutation_p.E469K|SUSD4_ENST00000454695.2_Missense_Mutation_p.E309K Q5VX71 SUSD4_HUMAN sushi domain containing 4 469 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) GATGCCACCTCCTCTGCCGTG 0.577000 22 58 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284087 223284087 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:223284087G>A ENST00000540964.1 - 4 2748 c.2287C>T c.(2287-2289)Ctt>Ttt p.L763F TLR5_ENST00000342210.6_Missense_Mutation_p.L763F O60602 TLR5_HUMAN toll-like receptor 5 763 TIR. Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) CCATCTCTAAGGAAGTGTCTG 0.488000 17 41 0 0 1 0 0 SPDYE3 441272 broad.mit.edu 37 7 99913409 99913409 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:99913409G>A ENST00000332397.6 + 7 1387 c.1201_splice c.e7-1 p.E401_splice SPDYE3_ENST00000437326.2_Splice_Site_p.E24_splice NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 401 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 TAATCACAGAGGATCCTGTCA 0.512000 45 123 0 0 1 0 0 FUT9 10690 broad.mit.edu 37 6 96651560 96651560 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:96651560C>T ENST00000302103.5 + 3 855 c.529C>T c.(529-531)Ccc>Tcc p.P177S NM_006581.3 NP_006572.2 Q9Y231 FUT9_HUMAN fucosyltransferase 9 (alpha (1,3) fucosyltransferase) 177 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356) BRCA - Breast invasive adenocarcinoma(108;0.08) AAGCACAAATCCCTTCGTGTT 0.458000 13 15 0 0 1 0 0 ZFP14 57677 broad.mit.edu 37 19 36831279 36831279 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:36831279C>T ENST00000270001.7 - 5 1564 c.1449G>A c.(1447-1449)aaG>aaA p.K483K NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) TACCACATTCCTTACATTCAT 0.383000 15 35 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8113395 8113395 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:8113395G>A ENST00000378641.3 + 1 572 c.97G>A c.(97-99)Gat>Aat p.D33N PLCB1_ENST00000378637.2_Missense_Mutation_p.D33N|PLCB1_ENST00000338037.6_Missense_Mutation_p.D33N NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 33 MAGAQPGVHALQLKPVCVSDSLKKGTKFVKWDDD -> MGS LQGIATKILIRILSDALIRKETDLKS (in Ref. 2; AAF86613). activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CAAGTGGGATGATGTAAGTAT 0.672000 11 22 0 0 1 0 0 PRR23B 389151 broad.mit.edu 37 3 138738942 138738942 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:138738942G>A ENST00000329447.5 - 1 826 c.562C>T c.(562-564)Ccc>Tcc p.P188S MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 188 Pro-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCCCGGTAGGGGATGAACATA 0.637000 12 51 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 50779739 50779739 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:50779739C>T ENST00000404971.1 - 10 3204 c.1865G>A c.(1864-1866)aGa>aAa p.R622K NRXN1_ENST00000401669.2_Missense_Mutation_p.R582K|NRXN1_ENST00000406859.3_Missense_Mutation_p.R582K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.R574K|NRXN1_ENST00000402717.3_Missense_Mutation_p.R574K|NRXN1_ENST00000406316.2_Missense_Mutation_p.R582K NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 582 Laminin G-like 3. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) CCGTCCGTCTCTCTGGAAGTC 0.443000 27 78 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789663 133789663 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:133789663G>A ENST00000321016.8 - 18 4187 c.3957C>T c.(3955-3957)acC>acT p.T1319T IGSF9B_ENST00000533871.2_Silent_p.T1319T Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1319 Pro-rich. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TGGGTGGTGGGGTCTCCGGTC 0.692000 3 9 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100682579 100682579 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:100682579C>T ENST00000306151.4 + 3 7946 c.7882C>T c.(7882-7884)Cct>Tct p.P2628S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2628 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AATCTCAACTCCTAGTGAAGT 0.453000 71 191 0 0 1 0 0 ZNF441 126068 broad.mit.edu 37 19 11892352 11892352 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:11892352C>T ENST00000357901.4 + 4 1815 c.1713C>T c.(1711-1713)ctC>ctT p.L571L ZNF441_ENST00000454339.2_Silent_p.L504L NM_152355.2 NP_689568.2 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 571 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TATCTGATCTCTCAAGCTTTC 0.413000 4 13 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142568001 142568001 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:142568001C>T ENST00000392957.2 + 18 3429 c.2642C>T c.(2641-2643)cCc>cTc p.P881L EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Missense_Mutation_p.P604L|EPHB6_ENST00000442129.1_Missense_Mutation_p.P881L NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 881 Poly-Pro.|Protein kinase. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TTCCGGCTGCCCCCGCCTCCA 0.537000 62 220 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9909924 9909924 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:9909924G>A ENST00000506583.1 - 10 1178 c.961C>T c.(961-963)Ccg>Tcg p.P321S SLC2A9_ENST00000264784.3_Missense_Mutation_p.P350S|SLC2A9_ENST00000309065.3_Missense_Mutation_p.P321S Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 350 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 ATCTTTGCCGGAGGGATCCCA 0.473000 5 41 0 0 1 0 0 ZFP14 57677 broad.mit.edu 37 19 36831280 36831280 + Missense_Mutation SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:36831280T>A ENST00000270001.7 - 5 1563 c.1448A>T c.(1447-1449)aAg>aTg p.K483M NM_020917.2 NP_065968.1 Q9HCL3 ZFP14_HUMAN ZFP14 zinc finger protein 483 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) ACCACATTCCTTACATTCATA 0.383000 15 34 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105830236 105830236 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:105830236G>A ENST00000353479.5 - 9 845 c.555C>T c.(553-555)atC>atT p.I185I COL17A1_ENST00000369733.3_Silent_p.I185I|COL17A1_ENST00000393211.3_Silent_p.I185I NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 185 Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CTTTCTTGGGGATGGGGAGTG 0.537000 30 55 0 0 1 0 0 LCT 3938 broad.mit.edu 37 2 136567182 136567182 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:136567182G>A ENST00000264162.2 - 8 2745 c.2735C>T c.(2734-2736)tCc>tTc p.S912F NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 912 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) AGCGGAAGAGGACACGCCCCA 0.517000 51 34 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393624 145393624 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:145393624G>A ENST00000511217.1 + 4 1111 c.1059_splice c.e4+1 p.Q353_splice SH3RF2_ENST00000359120.4_Splice_Site_p.Q353_splice Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 353 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GTGTGGGACAGGTAGGGAAGA 0.517000 25 45 0 0 1 0 0 RBM46 166863 broad.mit.edu 37 4 155749210 155749210 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:155749210C>T ENST00000281722.3 + 5 1828 c.1593C>T c.(1591-1593)tcC>tcT p.S531S RBM46_ENST00000510397.1_3'UTR NM_144979.3 NP_659416.1 Q8TBY0 RBM46_HUMAN RNA binding motif protein 46 531 nucleotide binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0854) ATCAGGCCTCCTTCTTCTGAA 0.348000 18 60 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559941 140559941 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140559941C>T ENST00000239444.2 + 1 2571 c.2326C>T c.(2326-2328)Cag>Tag p.Q776* NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 776 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACCTAATATTCAGGGCCATTC 0.428000 19 62 0 0 1 0 0 INPP5D 3635 broad.mit.edu 37 2 233990499 233990499 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:233990499C>T ENST00000359570.5 + 4 394 c.394C>T c.(394-396)Ccg>Tcg p.P132S INPP5D_ENST00000538935.1_Missense_Mutation_p.P132S|INPP5D_ENST00000474278.1_3'UTR Q92835 SHIP1_HUMAN inositol polyphosphate-5-phosphatase, 145kDa 132 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) AAGAAACATCCCGCTGACTGC 0.592000 14 14 0 0 1 0 0 HAO2 51179 broad.mit.edu 37 1 119927557 119927557 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:119927557C>T ENST00000361035.4 + 5 764 c.481C>T c.(481-483)Cta>Tta p.L161L HAO2_ENST00000325945.3_Silent_p.L148L NM_001005783.1 NP_001005783.1 Q9NYQ3 HAOX2_HUMAN hydroxyacid oxidase 2 (long chain) 148 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) GGTAGAATCCCTAGGTTTCAA 0.463000 22 54 0 0 1 0 0 KIAA1161 57462 broad.mit.edu 37 9 34372267 34372267 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:34372267G>A ENST00000297625.7 - 2 798 c.573C>T c.(571-573)ctC>ctT p.L191L NM_020702.3 NP_065753.2 Q6NSJ0 K1161_HUMAN KIAA1161 225 carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) AGTAGCGCTCGAGGATGCCCC 0.657000 4 10 0 0 1 0 0 SALL2 6297 broad.mit.edu 37 14 21991828 21991828 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:21991828G>A ENST00000327430.3 - 2 2328 c.2034C>T c.(2032-2034)ttC>ttT p.F678F SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.F541F NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 678 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) TGTGGCCCACGAAATGTGCAC 0.567000 21 45 0 0 1 0 0 TLR4 7099 broad.mit.edu 37 9 120476213 120476213 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:120476213G>A ENST00000355622.6 + 3 1908 c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.E563K NM_138554.4|NM_138557.2 NP_612564.1|NP_612567.1 O00206 TLR4_HUMAN toll-like receptor 4 603 LRRCT. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 103 GCTCTTGGTGGAAGTTGAACG 0.433000 6 22 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37818899 37818899 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:37818899G>A ENST00000264741.5 + 24 2814 c.2558G>A c.(2557-2559)gGa>gAa p.G853E AC093415.2_ENST00000438136.1_RNA NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 853 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CAAGAGAAGGGAAACTGCTCT 0.433000 17 41 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969356 47969356 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:47969356G>A ENST00000236877.6 - 2 700 c.305C>T c.(304-306)tCa>tTa p.S102L SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 102 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CTTCTCTTTTGACGTGATGAC 0.577000 14 28 0 0 1 0 0 C1orf94 84970 broad.mit.edu 37 1 34684302 34684302 + Silent SNP C C T rs147248695 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:34684302C>T ENST00000488417.1 + 7 1857 c.1737C>T c.(1735-1737)tcC>tcT p.S579S C1orf94_ENST00000373374.3_Silent_p.S389S NM_001134734.1 NP_001128206.1 Q6P1W5 CA094_HUMAN chromosome 1 open reading frame 94 389 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) GCTCGACATCCGGAGGGCCCT 0.448000 19 59 0 0 1 0 0 RAB15 376267 broad.mit.edu 37 14 65417755 65417755 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:65417755C>T ENST00000267512.5 - 4 441 c.361G>A c.(361-363)Ggt>Agt p.G121S RAB15_ENST00000533601.2_Intron|RAB15_ENST00000436278.2_Missense_Mutation_p.G75S|CHURC1-FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Intron|CHURC1-FNTB_ENST00000542227.1_Intron NM_198686.2 NP_941959.1 P59190 RAB15_HUMAN RAB15, member RAS oncogene family 0 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 8 all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102) GGTGAGGCACCCTCTCCACAC 0.582000 15 30 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431219 56431219 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:56431219G>A ENST00000302969.2 + 1 82 c.58G>A c.(58-60)Gac>Aac p.D20N NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 CATCACCCAGGACCCTCAGAT 0.408000 22 78 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89990385 89990385 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:89990385C>T ENST00000405460.2 + 33 7908 c.7812C>T c.(7810-7812)acC>acT p.T2604T NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2604 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGCCCCAAACCTTGGTGGAGC 0.458000 60 181 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105801078 105801078 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:105801078C>T ENST00000353479.5 - 38 2920 c.2630G>A c.(2629-2631)gGa>gAa p.G877E COL17A1_ENST00000369733.3_Missense_Mutation_p.G877E NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 877 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GCCTCGGGGTCCTGGTGGGCC 0.642000 13 61 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50660663 50660663 + Nonsense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:50660663G>A ENST00000403097.1 - 18 2533 c.1753C>T c.(1753-1755)Cga>Tga p.R585* GRB10_ENST00000398812.2_Nonsense_Mutation_p.R591*|GRB10_ENST00000357271.5_Nonsense_Mutation_p.R545*|GRB10_ENST00000335866.3_Nonsense_Mutation_p.R533*|GRB10_ENST00000401949.1_Nonsense_Mutation_p.R591*|GRB10_ENST00000407526.1_Nonsense_Mutation_p.R533*|GRB10_ENST00000439599.1_Nonsense_Mutation_p.R585*|GRB10_ENST00000402578.1_Nonsense_Mutation_p.R533*|GRB10_ENST00000402497.1_Nonsense_Mutation_p.R533*|GRB10_ENST00000398810.2_Nonsense_Mutation_p.R533*|GRB10_ENST00000406641.1_Nonsense_Mutation_p.R533* Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 591 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) AAGGCCACTCGGATGCAGTGG 0.517000 Russell-Silver syndrome 19 74 0 0 1 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855016 79855016 + Missense_Mutation SNP C C T rs140339198 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:79855016C>T ENST00000338682.3 - 5 1495 c.823G>A c.(823-825)Gaa>Aaa p.E275K NM_001004441.2 NP_001004441.2 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 275 cytoplasm|nucleus NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 28 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) GATAGTTCTTCCTCTGGTGTA 0.488000 22 54 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27412653 27412653 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:27412653G>A ENST00000379214.4 - 4 832 c.389C>T c.(388-390)gCt>gTt p.A130V LGR4_ENST00000480977.2_Intron|LGR4_ENST00000389858.4_Missense_Mutation_p.A106V NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 130 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 AGACTGCAAAGCACTCAGCCC 0.383000 13 30 0 0 1 0 0 CTSA 5476 broad.mit.edu 37 20 44523740 44523740 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr20:44523740C>T ENST00000372484.3 + 11 1392 c.1110C>T c.(1108-1110)atC>atT p.I370I CTSA_ENST00000354880.5_Silent_p.I353I|CTSA_ENST00000372459.2_Silent_p.I352I|CTSA_ENST00000191018.5_Silent_p.I352I NM_000308.2|NM_001127695.1 NP_000299.2|NP_001121167.1 P10619 PPGB_HUMAN cathepsin A 352 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CCCTCAACATCCCGGAGCAGC 0.607000 17 38 0 0 1 0 0 KIAA2013 90231 broad.mit.edu 37 1 11982654 11982654 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:11982654G>A ENST00000376576.3 - 2 2116 c.1926C>T c.(1924-1926)ggC>ggT p.G642G KIAA2013_ENST00000376572.3_Intron Q8IYS2 K2013_HUMAN KIAA2013 0 integral to membrane endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGAGAGCAAGGCCAAGGCCTC 0.617000 6 13 0 0 1 0 0 CDH20 28316 broad.mit.edu 37 18 59221584 59221584 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:59221584G>A ENST00000262717.4 + 12 2460 c.2062G>A c.(2062-2064)Gag>Aag p.E688K CDH20_ENST00000538374.1_Missense_Mutation_p.E688K|CDH20_ENST00000536675.2_Missense_Mutation_p.E688K Q9HBT6 CAD20_HUMAN cadherin 20, type 2 688 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GAACCCCCGGGAGGCGCAGGC 0.682000 28 56 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1099233 1099233 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:1099233G>A ENST00000441003.2 + 38 7239 c.7212G>A c.(7210-7212)agG>agA p.R2404R NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4766 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CATCTCACAGGGAGTACCAGG 0.627000 11 53 0 0 1 0 0 IKBKE 9641 broad.mit.edu 37 1 206650147 206650147 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:206650147C>T ENST00000367120.3 + 7 1040 c.667C>T c.(667-669)Ccc>Tcc p.P223S IKBKE_ENST00000462698.1_Intron|IKBKE_ENST00000537984.1_Missense_Mutation_p.P138S NM_001193322.1|NM_014002.3 NP_001180251.1|NP_054721.1 Q14164 IKKE_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon 223 Protein kinase. DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane|PML body ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2) 32 Breast(84;0.137) GCCCTTCATCCCCTTTGGTGG 0.627000 16 42 0 0 1 0 0 SPINK13 153218 broad.mit.edu 37 5 147665570 147665570 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:147665570C>T ENST00000512953.1 + 6 775 c.244C>T c.(244-246)Cat>Tat p.H82Y SPINK13_ENST00000398450.4_Missense_Mutation_p.H82Y|RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000511106.1_Missense_Mutation_p.H42Y Q1W4C9 ISK13_HUMAN serine peptidase inhibitor, Kazal type 13 (putative) 82 Kazal-like. extracellular region serine-type endopeptidase inhibitor activity breast(2)|lung(3) 5 TAGGGAATTTCATTATCGTAT 0.284000 16 34 0 0 1 0 0 SLC22A6 9356 broad.mit.edu 37 11 62752106 62752106 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:62752106G>A ENST00000377871.3 - 1 323 c.57C>T c.(55-57)atC>atT p.I19I SLC22A6_ENST00000360421.4_Silent_p.I19I|SLC22A6_ENST00000458333.2_Silent_p.I19I|SLC22A6_ENST00000421062.2_Silent_p.I19I NM_004790.4|NM_153278.2 NP_004781.2|NP_695010.1 Q4U2R8 S22A6_HUMAN solute carrier family 22 (organic anion transporter), member 6 19 alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GGGTGACCTGGATCTGCTGGA 0.652000 8 15 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12164175 12164175 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:12164175C>T ENST00000379388.2 + 9 7970 c.7638C>T c.(7636-7638)atC>atT p.I2546I HIVEP1_ENST00000541134.1_Silent_p.I411I NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 2546 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GTCTCCAGATCTTGAACATAG 0.542000 14 55 0 0 1 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257041 114257041 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:114257041C>T ENST00000306507.5 + 1 381 c.208C>T c.(208-210)Ccc>Tcc p.P70S NM_012184.4 NP_036316.1 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 70 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development 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 NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2) 26 GGTTGCGCTTCCCCGAGAGCA 0.692000 60 24 0 0 1 0 0 SMARCC2 6601 broad.mit.edu 37 12 56559231 56559231 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:56559231G>A ENST00000394023.3 - 27 3208 c.3103C>T c.(3103-3105)Cca>Tca p.P1035S SMARCC2_ENST00000347471.4_Missense_Mutation_p.P1035S|SMARCC2_ENST00000550164.1_Missense_Mutation_p.P1035S|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.P1004S NM_001130420.1 NP_001123892.1 Q8TAQ2 SMRC2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 1004 Pro-rich. chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(18;0.123) AAACTTCCTGGAGGGGCCCCA 0.672000 13 32 0 0 1 0 0 LGI1 9211 broad.mit.edu 37 10 95537348 95537348 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:95537348C>T ENST00000371418.4 + 4 665 c.405C>T c.(403-405)ttC>ttT p.F135F LGI1_ENST00000542308.1_Intron|LGI1_ENST00000371413.3_Silent_p.F135F NM_005097.2 NP_005088.1 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 135 axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1) 29 Colorectal(252;0.124) GACATACTTTCCGGGGACTAA 0.323000 9 21 0 0 1 0 0 GAPDH 2597 broad.mit.edu 37 12 6645673 6645673 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:6645673G>A ENST00000229239.5 + 3 709 c.43G>A c.(43-45)Ggg>Agg p.G15R GAPDH_ENST00000396859.1_Missense_Mutation_p.G15R|GAPDH_ENST00000396856.1_5'UTR|GAPDH_ENST00000396861.1_Missense_Mutation_p.G15R|GAPDH_ENST00000396858.1_5'UTR NM_002046.4 NP_002037.2 P04406 G3P_HUMAN glyceraldehyde-3-phosphate dehydrogenase 15 Interaction with WARS. gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization cytosol|membrane|nucleus|perinuclear region of cytoplasm glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4) 7 NADH(DB00157) TGGTCGTATTGGGCGCCTGGT 0.512000 33 72 0 0 1 0 0 OR11L1 391189 broad.mit.edu 37 1 248004661 248004661 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:248004661C>T ENST00000355784.2 - 1 593 c.538G>A c.(538-540)Gac>Aac p.D180N NM_001001959.1 NP_001001959.1 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, member 1 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D180N(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) GGCGGGAGGTCGCAGAAGAAA 0.507000 23 76 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35517115 35517115 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:35517115C>T ENST00000400445.3 + 1 692 c.158C>T c.(157-159)tCg>tTg p.S53L NBEA_ENST00000379939.2_Missense_Mutation_p.S53L|NBEA_ENST00000310336.4_Missense_Mutation_p.S53L|NBEA_ENST00000540320.1_Missense_Mutation_p.S53L NM_015678.4 NP_056493.3 Q8NFP9 NBEA_HUMAN neurobeachin 53 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) GGCTCCGGCTCGGTGATGCTC 0.682000 6 39 0 0 1 0 0 HNRNPCL1 343069 broad.mit.edu 37 1 12907852 12907852 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:12907852C>T ENST00000317869.6 - 2 516 c.291G>A c.(289-291)gtG>gtA p.V97V NM_001013631.1|NM_001136561.2|NM_001146181.1 NP_001013653.1|NP_001130033.2|NP_001139653.1 heterogeneous nuclear ribonucleoprotein C-like 1 NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2) 29 CTGATCGTTTCACACCTGCGT 0.493000 6 88 0 0 1 0 0 VIPR1 7433 broad.mit.edu 37 3 42576563 42576563 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:42576563G>A ENST00000433647.1 + 12 1608 c.984G>A c.(982-984)aaG>aaA p.K328K VIPR1_ENST00000543411.1_Silent_p.K321K|VIPR1_ENST00000438259.2_Silent_p.K159K|VIPR1_ENST00000325123.4_Silent_p.K369K NM_001251882.1 NP_001238811.1 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 369 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(284;0.241) CTGAAGTGAAGATGGTCTTTG 0.502000 39 123 0 0 1 0 0 ORAI1 84876 broad.mit.edu 37 12 122079522 122079522 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:122079522C>T ENST00000330079.7 + 2 1078 c.885C>T c.(883-885)ccC>ccT p.P295P NM_032790.3 NP_116179.2 Q96D31 CRCM1_HUMAN ORAI calcium release-activated calcium modulator 1 293 platelet activation|positive regulation of calcium ion transport integral to plasma membrane protein binding|store-operated calcium channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 11 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148) GGGACCACCCCCTGACGCCCG 0.627000 18 46 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88731887 88731887 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:88731887G>A ENST00000226284.5 + 6 443 c.376G>A c.(376-378)Ggg>Agg p.G126R NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 126 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) AGGGTATACAGGGTTAGCTGC 0.408000 18 70 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24721977 24721977 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:24721977G>A ENST00000376454.3 + 4 637 c.607G>A c.(607-609)Gaa>Aaa p.E203K KIAA1217_ENST00000376452.3_Missense_Mutation_p.E203K|KIAA1217_ENST00000376462.1_Missense_Mutation_p.E123K|KIAA1217_ENST00000458595.1_Missense_Mutation_p.E203K|KIAA1217_ENST00000430453.2_Missense_Mutation_p.E124K NM_019590.3 NP_062536.2 Q5T5P2 SKT_HUMAN KIAA1217 203 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GATGCCGAATGAAATCACAAG 0.483000 10 33 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162459366 162459366 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:162459366C>T ENST00000306100.5 - 10 1700 c.1264G>A c.(1264-1266)Gat>Aat p.D422N FSTL5_ENST00000427802.2_Missense_Mutation_p.D421N|FSTL5_ENST00000379164.4_Missense_Mutation_p.D421N|FSTL5_ENST00000536695.1_Missense_Mutation_p.D421N NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 422 Ig-like 2. extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ATGTCTTCATCCACTCCTGCT 0.423000 39 80 0 0 1 0 0 TMED8 283578 broad.mit.edu 37 14 77812744 77812744 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:77812744G>A ENST00000216468.7 - 3 330 c.275C>T c.(274-276)gCc>gTc p.A92V NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 92 transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) TTTCACCAAGGCCTGAGCCTC 0.532000 20 53 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140563568 140563568 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140563568A>T ENST00000361016.2 + 1 2589 c.1434A>T c.(1432-1434)agA>agT p.R478S NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 478 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCACAGACAGAGACTCAGGCA 0.647000 14 36 0 0 1 0 0 AGBL5 60509 broad.mit.edu 37 2 27279648 27279648 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:27279648G>A ENST00000360131.4 + 8 1682 c.1523G>A c.(1522-1524)gGg>gAg p.G508E AGBL5_ENST00000323064.8_Missense_Mutation_p.G508E NM_021831.5 NP_068603.4 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 508 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAAGCCTCAGGGATAATCCAC 0.488000 32 87 0 0 1 0 0 APOA5 116519 broad.mit.edu 37 11 116661246 116661246 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:116661246C>T ENST00000542499.1 - 4 771 c.699G>A c.(697-699)cgG>cgA p.R233R APOA5_ENST00000227665.4_Silent_p.R233R NM_001166598.1|NM_052968.4 NP_001160070.1|NP_443200.2 Q6Q788 APOA5_HUMAN apolipoprotein A-V 233 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1) 14 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) GCGTGAGCTTCCGGGAGAGCA 0.701000 51 54 0 0 1 0 0 PSG3 5671 broad.mit.edu 37 19 43233347 43233347 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:43233347G>A ENST00000327495.5 - 5 1355 c.1171C>T c.(1171-1173)Ctc>Ttc p.L391F PSG3_ENST00000595140.1_Missense_Mutation_p.L391F NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 391 Ig-like C2-type 3. defense response|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) CAAGCATAGAGCCCGCTATGC 0.458000 56 142 0 0 1 0 0 OR5K4 403278 broad.mit.edu 37 3 98072975 98072975 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:98072975C>T ENST00000354924.2 + 1 278 c.278C>T c.(277-279)tCc>tTc p.S93F RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005517.1 NP_001005517.1 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, member 4 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 AGAATTATTTCCCTGTATGAA 0.433000 64 175 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178140027 178140027 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:178140027G>A ENST00000335815.2 - 5 1049 c.852C>T c.(850-852)tcC>tcT p.S284S NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 284 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|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;0.185) GTTTATAAAGGGATGTACTGA 0.378000 20 52 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39594361 39594361 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:39594361C>T ENST00000246646.3 - 6 1224 c.1225G>A c.(1225-1227)Gaa>Aaa p.E409K NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 409 Coil 2.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) TCCTCGCTTTCCAGAAGGTTC 0.547000 9 25 0 0 1 0 0 TRABD2A 129293 broad.mit.edu 37 2 85097784 85097784 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:85097784G>A ENST00000335459.5 - 2 439 c.234C>T c.(232-234)ttC>ttT p.F78F TRABD2A_ENST00000409133.1_Silent_p.F78F|TRABD2A_ENST00000409520.2_Silent_p.F78F NM_001080824.1 NP_001074293.1 TraB domain containing 2A TGCTCTGCAGGAAAGCCTCCT 0.527000 9 5 0 0 1 0 0 FNDC7 163479 broad.mit.edu 37 1 109273436 109273436 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:109273436C>T ENST00000370017.3 + 9 2042 c.1765C>T c.(1765-1767)Caa>Taa p.Q589* FNDC7_ENST00000271311.2_Nonsense_Mutation_p.Q590* NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 590 Fibronectin type-III 7. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TCACACTCATCAAAACCACTG 0.478000 20 70 0 0 1 0 0 SLC29A1 2030 broad.mit.edu 37 6 44197655 44197655 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:44197655C>T ENST00000393841.1 + 6 817 c.326C>T c.(325-327)tCc>tTc p.S109F SLC29A1_ENST00000371740.5_Missense_Mutation_p.S109F|SLC29A1_ENST00000427851.2_Missense_Mutation_p.S109F|SLC29A1_ENST00000371731.1_Missense_Mutation_p.S109F|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000393844.1_Missense_Mutation_p.S109F|SLC29A1_ENST00000371713.1_Missense_Mutation_p.S109F|SLC29A1_ENST00000371755.3_Missense_Mutation_p.S109F|SLC29A1_ENST00000371708.1_Missense_Mutation_p.S109F|SLC29A1_ENST00000313248.7_Missense_Mutation_p.S188F|SLC29A1_ENST00000371724.1_Missense_Mutation_p.S109F NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 109 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) ATCCCCCAGTCCGTACGGATC 0.622000 11 40 0 0 1 0 0 OR7G1 125962 broad.mit.edu 37 19 9225612 9225612 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:9225612C>T ENST00000293614.1 - 1 827 c.828G>A c.(826-828)gtG>gtA p.V276V OR7G1_ENST00000541538.1_Silent_p.V276V Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 CAGTGTACATCACTGAAGCCA 0.443000 24 49 0 0 1 0 0 DGKG 1608 broad.mit.edu 37 3 186002490 186002490 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:186002490G>A ENST00000265022.3 - 7 1092 c.553C>T c.(553-555)Cgc>Tgc p.R185C DGKG_ENST00000382164.4_Missense_Mutation_p.R185C|DGKG_ENST00000344484.4_Missense_Mutation_p.R185C|DGKG_ENST00000544847.1_Missense_Mutation_p.R185C NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 185 EF-hand 1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TCATAGAGGCGAAACATGACT 0.488000 16 34 0 0 1 0 0 EIF2AK3 9451 broad.mit.edu 37 2 88913279 88913279 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:88913279G>A ENST00000303236.3 - 2 702 c.401C>T c.(400-402)tCc>tTc p.S134F EIF2AK3_ENST00000419748.1_5'UTR NM_004836.5 NP_004827.4 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha kinase 3 134 activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 CAAGGAACCGGATCCCACATC 0.378000 62 166 0 0 1 0 0 TRAF7 84231 broad.mit.edu 37 16 2226162 2226162 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:2226162C>T ENST00000326181.6 + 19 1991 c.1859C>T c.(1858-1860)tCc>tTc p.S620F NM_032271.2 NP_115647.2 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7, E3 ubiquitin protein ligase 620 activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 23 TTCAGTGCATCCTACGACCGG 0.682000 8 25 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137777697 137777697 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:137777697G>A ENST00000350339.2 + 5 413 c.399G>A c.(397-399)ggG>ggA p.G133G FCN2_ENST00000291744.6_Silent_p.G171G NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 171 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GTCGGCTGGGGGAGTTCTGGC 0.672000 14 58 0 0 1 0 0 SKI 6497 broad.mit.edu 37 1 2237522 2237522 + Missense_Mutation SNP A A G TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:2237522A>G ENST00000378536.4 + 6 1903 c.1831A>G c.(1831-1833)Aac>Gac p.N611D NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 611 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) GGCCAAGCGTAACCTGCGGAA 0.667000 6 10 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31355449 31355449 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:31355449G>A ENST00000542188.1 - 7 1201 c.888C>T c.(886-888)ggC>ggT p.G296G TRPM1_ENST00000256552.6_Silent_p.G279G|TRPM1_ENST00000397795.2_Silent_p.G257G NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 257 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) CCACGTTAGGGCCCCCCTCCA 0.612000 30 71 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62931375 62931375 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:62931375G>A ENST00000306494.6 - 9 1564 c.1565C>T c.(1564-1566)cCt>cTt p.P522L SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron NM_199352.3 NP_955384.3 Q6T423 S22AP_HUMAN solute carrier family 22, member 25 522 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 GTCAAGAAGAGGCTGGTTCCT 0.507000 40 76 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102573848 102573848 + Splice_Site SNP T T A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:102573848T>A ENST00000260229.4 - 3 434 c.341_splice c.e3-1 p.I115_splice NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 115 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) TAGTTTATTATTCTTAAAAAT 0.343000 9 21 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119124970 119124970 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:119124970G>A ENST00000328252.3 + 18 4816 c.4447G>A c.(4447-4449)Gag>Aag p.E1483K PAPPA_ENST00000534838.1_Missense_Mutation_p.E521K NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1483 Sushi 5. 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 GGTTCCAAACGAGCTCAACAG 0.557000 16 34 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863112 55863112 + Missense_Mutation SNP C C T rs111636907 byFrequency TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:55863112C>T ENST00000327335.4 - 1 810 c.811G>A c.(811-813)Gga>Aga p.G271R RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 ACAGTTACTCCTTTGCTTAAA 0.383000 18 53 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20057522 20057522 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:20057522C>T ENST00000396085.1 + 12 3147 c.2786C>T c.(2785-2787)tCc>tTc p.S929F NAV2_ENST00000311043.8_Missense_Mutation_p.S15F|NAV2_ENST00000540292.1_Missense_Mutation_p.S883F|NAV2_ENST00000360655.4_Missense_Mutation_p.S865F|NAV2_ENST00000396087.3_Missense_Mutation_p.S952F|NAV2_ENST00000527559.2_Missense_Mutation_p.S881F|NAV2_ENST00000349880.4_Missense_Mutation_p.S929F|NAV2_ENST00000533917.1_Missense_Mutation_p.S15F NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 952 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 GACAGCAGCTCCGTCAGCAGC 0.542000 6 38 0 0 1 0 0 KCNQ4 9132 broad.mit.edu 37 1 41300651 41300651 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:41300651C>T ENST00000347132.5 + 12 1708 c.1626C>T c.(1624-1626)ttC>ttT p.F542F KCNQ4_ENST00000509682.2_Silent_p.F488F|KCNQ4_ENST00000506017.1_3'UTR NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 542 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) TTCTCAAGTTCCTGGTGGCCA 0.557000 19 59 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39438411 39438411 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:39438411G>A ENST00000280481.7 + 16 7867 c.e16-1 NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATTTATCATAGGCATGCTCCC 0.403000 10 34 0 0 1 0 0 CHRNB3 1142 broad.mit.edu 37 8 42585803 42585803 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:42585803C>T ENST00000289957.2 + 4 444 c.316C>T c.(316-318)Cca>Tca p.P106S NM_000749.3 NP_000740.1 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 3 (neuronal) 106 synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2) 25 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) CATTAAAGTTCCATCAGAATC 0.353000 8 33 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100454707 100454707 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:100454707C>T ENST00000395996.1 + 23 3400 c.3289C>T c.(3289-3291)Cct>Tct p.P1097S VPS13B_ENST00000358544.2_Missense_Mutation_p.P1097S|VPS13B_ENST00000357162.2_Missense_Mutation_p.P1097S Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1097 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGGTGACATTCCTGGAACAGT 0.408000 14 44 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24324492 24324492 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:24324492C>T ENST00000175238.6 + 6 653 c.570C>T c.(568-570)tcC>tcT p.S190S ADAM7_ENST00000380789.1_Silent_p.S190S|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000441335.2_Silent_p.S190S|RP11-624C23.1_ENST00000523578.1_RNA NM_003817.3 NP_003808.2 Q9H2U9 ADAM7_HUMAN ADAM metallopeptidase domain 7 190 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) AAGAAGACTCCAAAATAAAAG 0.348000 18 54 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207639965 207639965 + Silent SNP T T C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:207639965T>C ENST00000367057.3 + 2 342 c.153T>C c.(151-153)tgT>tgC p.C51C CR2_ENST00000367058.3_Silent_p.C51C|CR2_ENST00000367059.3_Silent_p.C51C|CR2_ENST00000458541.2_Silent_p.C51C NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 51 Sushi 1. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GGTACAGTTGTTCAGGTACCT 0.423000 39 89 0 0 1 0 0 FGFR3 2261 broad.mit.edu 37 4 1804710 1804710 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:1804710G>A ENST00000340107.4 + 8 1256 c.1000G>A c.(1000-1002)Ggc>Agc p.G334S FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Intron|FGFR3_ENST00000440486.2_Intron NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 335 Ig-like C2-type 3. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) GCGGGACGGGGGCGAGTACCT 0.647000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 5 8 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31302253 31302253 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:31302253C>T ENST00000265071.2 + 6 1112 c.847C>T c.(847-849)Ccg>Tcg p.P283S CDH6_ENST00000514738.1_Missense_Mutation_p.P228S NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 283 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ATCTTCTCCACCGGGGACACC 0.423000 7 24 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18692116 18692116 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:18692116G>A ENST00000251296.1 + 6 1323 c.940G>A c.(940-942)Gac>Aac p.D314N NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 314 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) CCCACAGATCGACAACGAGGC 0.642000 21 59 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142281234 142281234 + Missense_Mutation SNP A A T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:142281234A>T ENST00000350721.4 - 4 1131 c.1010T>A c.(1009-1011)cTt>cAt p.L337H ATR_ENST00000383101.3_Missense_Mutation_p.L337H NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 337 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 ATCAGACTTAAGCCGCATGAG 0.403000 Other conserved DNA damage response genes 19 47 0 0 1 0 0 TMEM231 79583 broad.mit.edu 37 16 75573925 75573925 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:75573925G>A ENST00000398114.2 - 6 1043 c.1005C>T c.(1003-1005)ccC>ccT p.P335P TMEM231_ENST00000258173.6_Silent_p.P306P|RP11-77K12.7_ENST00000460606.1_Intron|TMEM231_ENST00000565067.1_Silent_p.P258P NM_001077416.1 NP_001070884.1 Q9H6L2 TM231_HUMAN transmembrane protein 231 306 integral to membrane endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 AGTCTCCCCGGGGCGTCACTG 0.488000 7 11 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229256 140229256 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:140229256C>T ENST00000378122.3 + 1 1900 c.1176C>T c.(1174-1176)caC>caT p.H392H PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.H392H|PCDHA8_ENST00000531613.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGACGCCCCACGTCCCCTTCA 0.557000 36 74 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42050216 42050216 + Missense_Mutation SNP G G T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:42050216G>T ENST00000372584.1 - 3 1267 c.253C>A c.(253-255)Ccc>Acc p.P85T HIVEP3_ENST00000372583.1_Missense_Mutation_p.P85T|HIVEP3_ENST00000429157.2_Missense_Mutation_p.P85T|HIVEP3_ENST00000247584.5_Missense_Mutation_p.P85T NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 85 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GCTTCGATGGGGGGCCTTTTG 0.612000 56 155 5.86059e-21 5.97151e-21 1 1 0 LMX1B 4010 broad.mit.edu 37 9 129453307 129453307 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:129453307G>A ENST00000355497.5 + 3 526 c.519G>A c.(517-519)aaG>aaA p.K173K LMX1B_ENST00000425646.2_Silent_p.K150K|LMX1B_ENST00000373474.4_Silent_p.K173K|LMX1B_ENST00000561065.1_Silent_p.K150K|LMX1B_ENST00000526117.1_Silent_p.K173K NM_001174146.1 NP_001167617.1 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 150 dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 15 AGAAGGAGAAGGACCTGCTCA 0.657000 Nail-Patella Syndrome 5 15 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7669782 7669782 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:7669782C>T ENST00000572933.1 + 22 5118 c.3658C>T c.(3658-3660)Ctt>Ttt p.L1220F DNAH2_ENST00000389173.2_Missense_Mutation_p.L1220F Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1220 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CTCCAAGGACCTTCAGAACCT 0.572000 10 27 0 0 1 0 0 FOLR1 2348 broad.mit.edu 37 11 71903350 71903350 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:71903350G>A ENST00000393679.1 + 2 569 c.133G>A c.(133-135)Gaa>Aaa p.E45K RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393676.3_Missense_Mutation_p.E45K|FOLR1_ENST00000393681.2_Missense_Mutation_p.E45K|FOLR1_ENST00000312293.4_Missense_Mutation_p.E45K P15328 FOLR1_HUMAN folate receptor 1 (adult) 45 cell death|folic acid transport|receptor-mediated endocytosis anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction folic acid binding|receptor activity cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 14 GCACCACAAGGAAAAGCCAGG 0.577000 15 52 0 0 1 0 0 DPEP3 64180 broad.mit.edu 37 16 68011567 68011567 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:68011567G>A ENST00000268793.4 - 6 1370 c.997C>T c.(997-999)Ctg>Ttg p.L333L NM_001129758.1|NM_022357.3 NP_001123230.1|NP_071752.3 Q9H4B8 DPEP3_HUMAN dipeptidase 3 308 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) AGAAGCTGCAGGATATCATCG 0.512000 7 6 0 0 1 0 0 ZNF429 353088 broad.mit.edu 37 19 21720863 21720863 + Nonsense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:21720863C>T ENST00000358491.4 + 4 2216 c.2008C>T c.(2008-2010)Cga>Tga p.R670* ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 670 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 gtcaggagatcgagaccgtcc 0.468000 4 11 0 0 1 0 0 HS3ST1 9957 broad.mit.edu 37 4 11400899 11400899 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:11400899G>A ENST00000002596.5 - 2 1905 c.731C>T c.(730-732)tCg>tTg p.S244L NM_005114.2 NP_005105.1 O14792 HS3S1_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 1 244 Golgi lumen|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3) 15 GTAGAAGTTCGAAGCATTGAT 0.572000 7 35 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122756641 122756641 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:122756641C>T ENST00000245838.8 - 30 3784 c.3753G>A c.(3751-3753)ggG>ggA p.G1251G THOC2_ENST00000355725.4_Silent_p.G1251G|THOC2_ENST00000491737.1_Silent_p.G1136G NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1251 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 TGCTTGAATTCCCTTTAGGTG 0.318000 3 8 0 0 1 0 0 TXNDC2 84203 broad.mit.edu 37 18 9887382 9887382 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr18:9887382C>T ENST00000306084.6 + 2 1105 c.906C>T c.(904-906)tcC>tcT p.S302S TXNDC2_ENST00000357775.4_Silent_p.S235S|TXNDC2_ENST00000536353.2_Intron NM_001098529.1 NP_001091999.1 Q86VQ3 TXND2_HUMAN thioredoxin domain containing 2 (spermatozoa) 302 22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I. cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis cytoplasm electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1) 31 TCCCCAAGTCCCTAGAGGAAG 0.602000 20 59 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875558 247875558 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:247875558G>A ENST00000302084.2 - 1 547 c.500C>T c.(499-501)tCc>tTc p.S167F RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GCCACAGAAGGACAGGCCACT 0.602000 30 68 0 0 1 0 0 OR51F1 256892 broad.mit.edu 37 11 4790760 4790760 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:4790760C>T ENST00000380383.1 - 1 408 c.409G>A c.(409-411)Gac>Aac p.D137N OR51F1_ENST00000343430.3_Missense_Mutation_p.D130N|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 130 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) CTCAGAGGGTCACAGATGGCC 0.408000 16 43 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48605326 48605326 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:48605326G>A ENST00000358350.4 - 12 1518 c.914C>T c.(913-915)tCg>tTg p.S305L FRYL_ENST00000503238.1_Missense_Mutation_p.S305L|FRYL_ENST00000507711.1_Missense_Mutation_p.S305L|FRYL_ENST00000506685.1_Missense_Mutation_p.S11L|FRYL_ENST00000537810.1_Missense_Mutation_p.S305L|FRYL_ENST00000264319.7_5'UTR NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 305 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 CTTCTTTCTCGAGCTCAGTTC 0.289000 14 39 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118533514 118533514 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:118533514C>T ENST00000336338.5 - 38 5556 c.5491G>A c.(5491-5493)Gag>Aag p.E1831K NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1831 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) GTAGTTTCCTCCATTTTAGGG 0.284000 24 68 0 0 1 0 0 INTS3 65123 broad.mit.edu 37 1 153721217 153721217 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:153721217C>T ENST00000318967.2 + 6 1138 c.570C>T c.(568-570)atC>atT p.I190I RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Silent_p.I190I|INTS3_ENST00000456435.1_5'UTR NM_023015.3 NP_075391.3 Q68E01 INT3_HUMAN integrator complex subunit 3 191 DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing integrator complex|SOSS complex protein binding breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TTCTGGATATCCTGACAGAGC 0.468000 47 124 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51920487 51920487 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:51920487C>T ENST00000371117.3 - 19 2009 c.1734G>A c.(1732-1734)ggG>ggA p.G578G PKHD1_ENST00000340994.4_Silent_p.G578G NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 578 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) AGGGCTCCGTCCCACTGGTGA 0.527000 9 36 0 0 1 0 0 HS6ST3 266722 broad.mit.edu 37 13 97485030 97485030 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr13:97485030G>A ENST00000376705.2 + 2 1018 c.994G>A c.(994-996)Gaa>Aaa p.E332K NM_153456.3 NP_703157.2 Q8IZP7 H6ST3_HUMAN heparan sulfate 6-O-sulfotransferase 3 332 integral to membrane sulfotransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1) 20 all_neural(89;0.0878)|Medulloblastoma(90;0.163) GAACGAGAGTGAAAGAAACAC 0.488000 23 44 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25194660 25194660 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:25194660C>T ENST00000409280.1 - 6 873 c.565G>A c.(565-567)Gct>Act p.A189T C7orf31_ENST00000283905.3_Missense_Mutation_p.A189T Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 189 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 GAATCATAAGCCTTGGTTGGC 0.453000 16 25 0 0 1 0 0 UNC5B 219699 broad.mit.edu 37 10 73039664 73039664 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:73039664G>A ENST00000335350.6 + 2 582 c.166G>A c.(166-168)Gac>Aac p.D56N UNC5B_ENST00000373192.4_Missense_Mutation_p.D56N NM_170744.4 NP_734465.2 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B (C. elegans) 56 Ig-like. apoptosis|axon guidance|regulation of apoptosis integral to membrane breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4) 49 GGAGCCACAGGACGCCTACAT 0.617000 13 28 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89954007 89954007 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:89954007C>T ENST00000405460.2 + 21 4760 c.4664C>T c.(4663-4665)tCg>tTg p.S1555L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1555 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCTCGTATTTCGGAAGAAAAT 0.353000 18 74 0 0 1 0 0 DNAJC6 9829 broad.mit.edu 37 1 65871640 65871640 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:65871640C>T ENST00000395325.3 + 16 2301 c.2144C>T c.(2143-2145)cCc>cTc p.P715L DNAJC6_ENST00000263441.7_Missense_Mutation_p.P702L|DNAJC6_ENST00000371069.4_Missense_Mutation_p.P772L NM_014787.3 NP_055602.1 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 715 Pro-rich. cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1) 39 AAGGCGTCTCCCCAGCCTATG 0.592000 21 37 0 0 1 0 0 RCSD1 92241 broad.mit.edu 37 1 167663498 167663498 + Missense_Mutation SNP G G A rs145248380 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:167663498G>A ENST00000367854.3 + 5 764 c.433G>A c.(433-435)Gac>Aac p.D145N RCSD1_ENST00000537350.1_Missense_Mutation_p.D115N NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 145 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) TGTCAGCTTCGACCAGCCCCC 0.582000 12 20 0 0 1 0 0 FBXL7 23194 broad.mit.edu 37 5 15936891 15936891 + Missense_Mutation SNP G G C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:15936891G>C ENST00000504595.1 + 4 1553 c.1072G>C c.(1072-1074)Gcg>Ccg p.A358P FBXL7_ENST00000510662.1_Missense_Mutation_p.A311P|FBXL7_ENST00000329673.7_Missense_Mutation_p.A346P NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 358 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 CCTGAGCATCGCGCACTGCGG 0.667000 9 12 0 0 1 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70617400 70617400 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:70617400C>T ENST00000260126.3 - 6 2194 c.1488G>A c.(1486-1488)ttG>ttA p.L496L SLCO5A1_ENST00000524945.1_Silent_p.L496L|SLCO5A1_ENST00000530307.1_Silent_p.L441L NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 496 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CACCAAGTTTCAATTTTTTTA 0.403000 17 41 0 0 1 0 0 ATP2C2 9914 broad.mit.edu 37 16 84476138 84476138 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:84476138C>T ENST00000416219.2 + 15 1423 c.1334C>T c.(1333-1335)gCg>gTg p.A445V ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V|ATP2C2_ENST00000420010.2_3'UTR O75185 AT2C2_HUMAN ATPase, Ca++ transporting, type 2C, member 2 445 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 GCCAACAATGCGGTCATCAGA 0.552000 58 86 0 0 1 0 0 TMEM176B 28959 broad.mit.edu 37 7 150490280 150490280 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:150490280G>A ENST00000447204.2 - 5 868 c.496C>T c.(496-498)Cgc>Tgc p.R166C TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166C|TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129C|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166C|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166C|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166C NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 166 cell differentiation|organ morphogenesis integral to membrane|nuclear membrane cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3) 19 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GGGTCTGAGCGATCACACACA 0.507000 25 58 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51096710 51096710 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:51096710G>A ENST00000395542.2 - 12 2513 c.2329C>T c.(2329-2331)Cca>Tca p.P777S COBL_ENST00000265136.7_Missense_Mutation_p.P695S O75128 COBL_HUMAN cordon-bleu WH2 repeat protein 695 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) CTTTTCCCTGGGTTTTGGCCT 0.488000 21 46 0 0 1 0 0 PPM1L 151742 broad.mit.edu 37 3 160474331 160474331 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr3:160474331G>A ENST00000498165.1 + 1 336 c.235G>A c.(235-237)Gag>Aag p.E79K PPM1L_ENST00000497343.1_Missense_Mutation_p.E79K NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 79 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) TGATGTGCTCGAGGCCGAGTT 0.582000 12 24 0 0 1 0 0 CPXM2 119587 broad.mit.edu 37 10 125526566 125526566 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:125526566C>T ENST00000241305.3 - 10 1556 c.1402G>A c.(1402-1404)Gat>Aat p.D468N CPXM2_ENST00000368854.3_5'UTR NM_198148.2 NP_937791.2 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 468 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3) 47 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) TTCTGTCGATCCTCTGCCTCC 0.512000 18 50 0 0 1 0 0 CYB561 1534 broad.mit.edu 37 17 61511954 61511954 + Splice_Site SNP C C T rs77535447 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:61511954C>T ENST00000392976.1 - 6 864 c.563_splice c.e6-1 p.G189_splice CYB561_ENST00000392975.2_Splice_Site_p.G189_splice|CYB561_ENST00000542042.1_Splice_Site_p.G256_splice|CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000582997.1_Splice_Site_p.G196_splice|CYB561_ENST00000360793.3_Splice_Site_p.G189_splice|CYB561_ENST00000448884.2_Splice_Site_p.G136_splice|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000582034.1_Splice_Site_p.G160_splice|CYB561_ENST00000581573.1_Splice_Site_p.G189_splice|CYB561_ENST00000581163.1_5'UTR NM_001017916.1 NP_001017916.1 P49447 CY561_HUMAN cytochrome b561 189 Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding lung(2)|ovary(1)|prostate(1) 4 READ - Rectum adenocarcinoma(1115;0.0689) CTATACTTGCCCCTGCAGGGG 0.607000 5 29 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35714779 35714779 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:35714779G>A ENST00000314888.9 - 22 3202 c.2849C>T c.(2848-2850)cCc>cTc p.P950L TLN1_ENST00000540444.1_Missense_Mutation_p.P950L NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 950 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CACCAGCAGGGGCTGGGGGCC 0.597000 29 85 0 0 1 0 0 GLG1 2734 broad.mit.edu 37 16 74526909 74526909 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:74526909G>A ENST00000422840.2 - 7 1179 c.1180C>T c.(1180-1182)Cgt>Tgt p.R394C GLG1_ENST00000205061.5_Missense_Mutation_p.R394C|GLG1_ENST00000447066.2_Missense_Mutation_p.R383C NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 394 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 CTGGCTTCACGCGATCGCGGA 0.408000 18 14 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56487661 56487661 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:56487661C>T ENST00000267101.3 + 13 2034 c.1594C>T c.(1594-1596)Cac>Tac p.H532Y ERBB3_ENST00000415288.2_Missense_Mutation_p.H473Y|ERBB3_ENST00000450146.2_Intron NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 532 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTGTGTGACCCACTGCAACTT 0.562000 37 76 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38406262 38406262 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr5:38406262C>T ENST00000322350.5 + 7 1093 c.747C>T c.(745-747)ccC>ccT p.P249P EGFLAM_ENST00000354891.3_Silent_p.P249P|EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Silent_p.P15P NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 249 cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GCTATGGACCCCGTTATATCA 0.483000 17 40 0 0 1 0 0 TRIM15 89870 broad.mit.edu 37 6 30136134 30136134 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:30136134G>A ENST00000376694.4 + 3 1004 c.535G>A c.(535-537)Gag>Aag p.E179K TRIM15_ENST00000376688.1_Intron NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 179 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GCTGCAGCAGGAGCTGGAGCA 0.522000 15 37 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92085682 92085682 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:92085682G>A ENST00000298047.6 + 1 421 c.404G>A c.(403-405)gGa>gAa p.G135E FAT3_ENST00000541502.1_Missense_Mutation_p.G135E|FAT3_ENST00000409404.2_Missense_Mutation_p.G135E Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 135 Cadherin 1. 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) TCTGTCAGAGGAGAGGATTTG 0.353000 TCGA Ovarian(4;0.039) 143 338 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2855624 2855624 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr8:2855624G>A ENST00000602557.1 - 55 8844 c.8289C>T c.(8287-8289)ttC>ttT p.F2763F CSMD1_ENST00000542608.1_Silent_p.F2704F|CSMD1_ENST00000537824.1_Silent_p.F2762F|CSMD1_ENST00000400186.3_Silent_p.F2705F|CSMD1_ENST00000602723.1_Silent_p.F2705F|CSMD1_ENST00000520002.1_Silent_p.F2763F Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2763 Sushi 19. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGTTGCAGGTGAAATTCACGA 0.557000 19 55 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53187985 53187985 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr12:53187985C>T ENST00000417996.2 - 2 850 c.776G>A c.(775-777)cGg>cAg p.R259Q KRT3_ENST00000309505.3_Missense_Mutation_p.R259Q NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 259 Coil 1B.|Rod. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CAGGTAGCTCCGCAGGTAGTT 0.532000 37 125 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79974675 79974675 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:79974675G>A ENST00000306729.7 + 15 1784 c.e15-1 ASPSCR1_ENST00000580534.1_Splice_Site|ASPSCR1_ENST00000582404.1_Splice_Site|ASPSCR1_ENST00000306739.4_Splice_Site NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CCTCCCTGCAGGTGTCTACCT 0.672000 T TFE3 alveolar soft part sarcoma 18 19 0 0 1 0 0 UBE2I 7329 broad.mit.edu 37 16 1370213 1370213 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr16:1370213C>T ENST00000355803.4 + 5 813 c.262C>T c.(262-264)Cct>Tct p.P88S UBE2I_ENST00000406620.1_Missense_Mutation_p.P88S|UBE2I_ENST00000566587.1_Missense_Mutation_p.P88S|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000325437.5_Missense_Mutation_p.P88S|UBE2I_ENST00000403747.2_Missense_Mutation_p.P88S|UBE2I_ENST00000402301.1_Missense_Mutation_p.P88S|LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000397514.3_Missense_Mutation_p.P88S|UBE2I_ENST00000397515.2_Missense_Mutation_p.P88S NM_194260.2 NP_919236.1 P63279 UBC9_HUMAN ubiquitin-conjugating enzyme E2I 88 VYPS -> GVPF (in Ref. 6; AAC50603). cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation cytoplasm|PML body|synaptonemal complex ATP binding|enzyme binding|ubiquitin-protein ligase activity breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 5 Hepatocellular(780;0.00369) GAATGTGTACCCTTCGGGGAC 0.552000 18 35 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62026124 62026124 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:62026124G>A ENST00000578147.1 - 16 3067 c.2989_splice c.e16-1 p.A997_splice SCN4A_ENST00000435607.1_Splice_Site_p.A997_splice P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 997 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GCTGCACGCAGGCTGATGGGG 0.652000 5 45 0 0 1 0 0 N4BP2 55728 broad.mit.edu 37 4 40099190 40099190 + Splice_Site SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:40099190G>A ENST00000261435.6 + 3 645 c.e3+1 NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GATTTCAAAGGTGAGAAAAAG 0.323000 6 17 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179445168 179445168 + Missense_Mutation SNP G G C TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:179445168G>C ENST00000589042.1 - 317 67162 c.66938C>G c.(66937-66939)aCt>aGt p.T22313S TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T13440S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T19745S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T20672S|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T13248S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T13373S|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20672 Fibronectin type-III 62. 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) GTCAAAGTCAGTTGACTTTAT 0.388000 14 67 0 0 1 0 0 CTD-3074O7.11 0 broad.mit.edu 37 11 66293621 66293621 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:66293621C>T ENST00000419755.3 + 12 1327 c.1249C>T c.(1249-1251)Cgg>Tgg p.R417W ZDHHC24_ENST00000526986.1_Intron|BBS1_ENST00000393994.2_Missense_Mutation_p.R251W|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Missense_Mutation_p.R380W|BBS1_ENST00000455748.2_Missense_Mutation_p.R283W TTGCTTTGGCCGGTACGGGCG 0.562000 16 52 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68620560 68620560 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:68620560C>T ENST00000423218.2 - 16 2037 c.1942G>A c.(1942-1944)Gag>Aag p.E648K ITGA11_ENST00000315757.7_Missense_Mutation_p.E648K Q9UKX5 ITA11_HUMAN integrin, alpha 11 648 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) TTGGATGGCTCAAAGTGGAGG 0.627000 33 67 0 0 1 0 0 PALM2 114299 broad.mit.edu 37 9 112694261 112694261 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:112694261G>A ENST00000448454.2 + 7 455 c.455G>A c.(454-456)cGa>cAa p.R152Q PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R150Q|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.R150Q|AKAP2_ENST00000510514.5_Missense_Mutation_p.R150Q|PALM2_ENST00000314527.4_Missense_Mutation_p.R150Q|AKAP2_ENST00000555236.1_Missense_Mutation_p.R150Q|PALM2_ENST00000374531.2_Intron|PALM2_ENST00000483909.1_Intron paralemmin 2 breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 18 CTCTGTTCACGAACAGCAGAA 0.537000 38 87 0 0 1 0 0 SLC23A3 151295 broad.mit.edu 37 2 220028152 220028152 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:220028152G>A ENST00000455516.2 - 10 1470 c.1423C>T c.(1423-1425)Ctg>Ttg p.L475L SLC23A3_ENST00000409878.3_Silent_p.L467L|SLC23A3_ENST00000295738.7_Silent_p.L350L|SLC23A3_ENST00000396775.3_3'UTR NM_001144890.1 NP_001138362.1 Q6PIS1 S23A3_HUMAN solute carrier family 23, member 3 467 transmembrane transport integral to membrane protein binding|transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 11 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CATCTTGGCAGCAGCAAGGCC 0.527000 4 162 0 0 1 0 0 PTGS2 5743 broad.mit.edu 37 1 186645824 186645824 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:186645824G>A ENST00000367468.5 - 7 881 c.745C>T c.(745-747)Cct>Tct p.P249S PTGS2_ENST00000490885.2_5'UTR NM_000963.2 NP_000954.1 P35354 PGH2_HUMAN prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) 249 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) ACTGTGGGAGGATACATCTCT 0.383000 7 20 0 0 1 0 0 GGA3 23163 broad.mit.edu 37 17 73240700 73240700 + Splice_Site SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr17:73240700C>T ENST00000245541.6 - 4 516 c.300_splice c.e4+1 p.K100_splice GGA3_ENST00000579743.1_5'UTR|GGA3_ENST00000351904.7_Intron|GGA3_ENST00000582486.1_Splice_Site_p.K28_splice|GGA3_ENST00000578348.1_Intron|GGA3_ENST00000582717.1_Splice_Site_p.K28_splice|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000537686.1_Splice_Site_p.K100_splice NM_138619.2 NP_619525.1 Q9NZ52 GGA3_HUMAN golgi-associated, gamma adaptin ear containing, ARF binding protein 3 100 Binds to ARF1 (in long isoform).|VHS. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 20 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GCTGACTGACCTTTGGAGAGA 0.478000 36 188 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202287465 202287465 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:202287465G>A ENST00000367278.3 + 18 2123 c.2034G>A c.(2032-2034)ggG>ggA p.G678G LGR6_ENST00000439764.2_Silent_p.G539G|LGR6_ENST00000255432.7_Silent_p.G626G NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 678 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 GGGCCTATGGGAAGTCCCCCT 0.682000 7 12 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11170485 11170485 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:11170485C>T ENST00000358026.2 + 34 5072 c.4788C>T c.(4786-4788)atC>atT p.I1596I SMARCA4_ENST00000429416.3_Silent_p.I1564I|SMARCA4_ENST00000444061.3_Silent_p.I1530I|SMARCA4_ENST00000589677.1_Silent_p.I1533I|SMARCA4_ENST00000541122.2_Silent_p.I1534I|SMARCA4_ENST00000590574.1_Silent_p.I1531I|SMARCA4_ENST00000413806.3_Silent_p.I1534I|SMARCA4_ENST00000344626.4_Silent_p.I1564I|SMARCA4_ENST00000450717.3_Silent_p.I1533I NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1564 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GGCAGAAAATCgagaaggagg 0.592000 """F, N, Mis""" NSCLC 4 10 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31770204 31770204 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:31770204G>A ENST00000240587.4 - 2 822 c.495C>T c.(493-495)ttC>ttT p.F165F NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 165 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GGTGCCAGTCGAAGCTCCCgc 0.642000 8 14 0 0 1 0 0 WBP2NL 164684 broad.mit.edu 37 22 42418267 42418267 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr22:42418267C>T ENST00000328823.9 + 5 452 c.421C>T c.(421-423)Cca>Tca p.P141S WBP2NL_ENST00000543212.1_Missense_Mutation_p.P67S NM_152613.2 NP_689826.2 Q6ICG8 WBP2L_HUMAN WBP2 N-terminal like 141 egg activation|male pronucleus assembly|meiosis perinuclear theca WW domain binding breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1) 14 CCGAGGATTTCCACTTAGAAC 0.373000 23 48 0 0 1 0 0 BICD2 23299 broad.mit.edu 37 9 95480983 95480983 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr9:95480983G>A ENST00000356884.6 - 5 2011 c.1944C>T c.(1942-1944)acC>acT p.T648T BICD2_ENST00000375512.3_Silent_p.T648T NM_001003800.1 NP_001003800.1 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 (Drosophila) 648 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 23 ACAGCTCCGTGGTGCGGTCCA 0.617000 56 131 0 0 1 0 0 ZNF419 79744 broad.mit.edu 37 19 58003535 58003535 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr19:58003535C>T ENST00000424930.2 + 4 486 c.257C>T c.(256-258)cCc>cTc p.P86L ZNF419_ENST00000520540.1_Missense_Mutation_p.P73L|ZNF419_ENST00000221735.7_Missense_Mutation_p.P85L|ZNF419_ENST00000518999.1_Missense_Mutation_p.P86L|ZNF419_ENST00000442920.2_Missense_Mutation_p.P72L|ZNF419_ENST00000426954.2_Missense_Mutation_p.P73L|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000415379.2_Intron|ZNF419_ENST00000354197.4_Missense_Mutation_p.P73L|ZNF419_ENST00000347466.6_Intron NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 85 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) TGGGAGGAGCCCTTCATGCCT 0.507000 14 50 0 0 1 0 0 AGT 183 broad.mit.edu 37 1 230841908 230841908 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:230841908C>T ENST00000366667.4 - 3 1109 c.895G>A c.(895-897)Gag>Aag p.E299K NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 299 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) ACCCAGAACTCCTGGGGCTCG 0.587000 14 38 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21233206 21233206 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr2:21233206C>T ENST00000233242.1 - 26 6661 c.6534G>A c.(6532-6534)atG>atA p.M2178I NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2178 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CAAATTGTATCATATATGTCT 0.234000 76 272 0 0 1 0 0 PHRF1 57661 broad.mit.edu 37 11 601609 601609 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:601609C>T ENST00000264555.5 + 10 1188 c.1060C>T c.(1060-1062)Ccg>Tcg p.P354S PHRF1_ENST00000533464.1_Missense_Mutation_p.P350S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P354S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P353S NM_020901.2 NP_065952.2 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 354 Arg-rich. 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 AAAGAAAACCCCGTCCGGACC 0.507000 13 44 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24563628 24563628 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr6:24563628C>T ENST00000535378.1 - 17 3165 c.2523G>A c.(2521-2523)tcG>tcA p.S841S KIAA0319_ENST00000430948.2_Silent_p.S805S|KIAA0319_ENST00000537886.1_Silent_p.S850S|KIAA0319_ENST00000543707.1_Silent_p.S850S|KIAA0319_ENST00000378214.3_Silent_p.S850S NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 850 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 CCTTAATGTCCGAGTCCAGCA 0.587000 18 36 0 0 1 0 0 TCL6 27004 broad.mit.edu 37 14 96136854 96136854 + RNA SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr14:96136854C>T ENST00000467865.1 + 0 1964 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) CGAGTCACGTCCTTTTTTCCT 0.493000 T TRA@ T-ALL 3 22 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55322780 55322780 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:55322780C>T ENST00000314644.2 + 1 998 c.998C>T c.(997-999)cCc>cTc p.P333L NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 279 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 ATCTTAAATCCCTTGCTCAAT 0.373000 HNSCC(20;0.049) 19 76 0 0 1 0 0 OR51F1 256892 broad.mit.edu 37 11 4790276 4790276 + Missense_Mutation SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:4790276G>A ENST00000380383.1 - 1 892 c.893C>T c.(892-894)cCc>cTc p.P298L OR51F1_ENST00000343430.3_Missense_Mutation_p.P291L|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 291 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) GTCGATGATGGGGTTGAGCAC 0.458000 7 51 0 0 1 0 0 RASGRP1 10125 broad.mit.edu 37 15 38786957 38786957 + Missense_Mutation SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:38786957C>T ENST00000310803.5 - 16 2062 c.1885G>A c.(1885-1887)Gga>Aga p.G629R RASGRP1_ENST00000450598.2_Missense_Mutation_p.G594R|RASGRP1_ENST00000559830.1_Intron|RASGRP1_ENST00000558164.1_Intron|RASGRP1_ENST00000539159.1_Missense_Mutation_p.G581R|RASGRP1_ENST00000561180.1_Missense_Mutation_p.G680R NM_001128602.1|NM_005739.3 NP_001122074.1|NP_005730.2 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 (calcium and DAG-regulated) 629 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) GTAAAAGGTCCTTCCTCAGGT 0.463000 9 17 0 0 1 0 0 PPIF 10105 broad.mit.edu 37 10 81109500 81109500 + Silent SNP C C T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr10:81109500C>T ENST00000225174.3 + 3 377 c.306C>T c.(304-306)ttC>ttT p.F102F PPIF_ENST00000492149.1_3'UTR|PPIF_ENST00000394579.3_Silent_p.F102F NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F 102 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) TCCCTTCCTTCATGTGCCAGG 0.542000 6 28 0 0 1 0 0 ONECUT1 3175 broad.mit.edu 37 15 53081560 53081560 + Silent SNP G G A TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:53081560G>A ENST00000305901.5 - 1 649 c.522C>T c.(520-522)ggC>ggT p.G174G ONECUT1_ENST00000561401.2_Intron NM_004498.2 NP_004489.1 Q9UBC0 HNF6_HUMAN one cut homeobox 1 174 endocrine pancreas development nucleus RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 17 all cancers(107;0.0708) TCTGGCCCATGCCGGCCACGT 0.667000 21 77 0 0 1 0 0 SAMD11 148398 broad.mit.edu 37 1 874816 874817 + Frame_Shift_Ins INS - - T TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr1:874816_874817insT ENST00000342066.3 + 7 765_766 c.682_683insT c.(682-684)cccfs p.P228fs NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 228 nucleus breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CTGGCATGATCCCCCTCATCAC 0.644 7 21 --- --- --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 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 4 2 --- --- --- --- CENPE 1062 broad.mit.edu 37 4 104061189 104061189 + Frame_Shift_Del DEL T T - TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr4:104061189delT ENST00000265148.3 - 38 6050 c.5961delA c.(5959-5961)gafs p.E1987fs CENPE_ENST00000380026.3_Intron NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1987 blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TATTGACATCTTCTTTCACTC 0.328 11 28 --- --- --- --- ZNF777 27153 broad.mit.edu 37 7 149152619 149152620 + Frame_Shift_Del DEL AG AG - TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr7:149152619_149152620delAG ENST00000247930.4 - 2 817_818 c.494_495delCT c.(493-495)cfs p.P165fs NM_015694.2 NP_056509.2 Q9ULD5 ZN777_HUMAN zinc finger protein 777 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1) 26 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) AGATCTGGAAAGGGGTGTCCTT 0.604 47 140 --- --- --- --- UBXN1 51035 broad.mit.edu 37 11 62445468 62445468 + Frame_Shift_Del DEL A A - TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr11:62445468delA ENST00000294119.2 - 5 544 c.413delT c.(412-414)cafs p.L138fs UBXN1_ENST00000301935.5_Frame_Shift_Del_p.L138fs|UBXN1_ENST00000529640.1_Frame_Shift_Del_p.L138fs|UBXN1_ENST00000524762.1_5'UTR NM_015853.3 NP_056937.2 Q04323 UBXN1_HUMAN UBX domain protein 1 138 Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding endometrium(5)|lung(12) 17 ATCTTCCTGTAGCCGCTGTCG 0.597 16 38 --- --- --- --- DNM1P46 196968 broad.mit.edu 37 15 100340123 100340125 + RNA DEL AGA AGA - TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr15:100340123_100340125delAGA ENST00000341853.1 - 0 801_803 NR_003260.1 AGCAGCTCCGAGAAGATGAACTC 0.611 7 25 --- --- --- --- NCAM2 4685 broad.mit.edu 37 21 22910226 22910226 + Frame_Shift_Del DEL T T - TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chr21:22910226delT ENST00000400546.1 + 18 2711 c.2462delT c.(2461-2463)atfs p.I821fs NCAM2_ENST00000284894.7_Frame_Shift_Del_p.I679fs NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 821 neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) ACTATAGAAATTAAAGTTTCT 0.323 19 64 --- --- --- --- SMS 6611 broad.mit.edu 37 X 21995186 21995186 + Frame_Shift_Del DEL C C - TCGA-ER-A194-01A-11D-A197-08 TCGA-ER-A194-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 01509a9b-70ab-41bc-8666-f49c04c7cdcd 930bbb8a-4bca-4a83-9d9d-6d47e585d500 g.chrX:21995186delC ENST00000404933.2 + 5 589 c.337delC c.(337-339)ccfs p.P113fs SMS_ENST00000379404.1_Frame_Shift_Del_p.P60fs|SMS_ENST00000415881.2_Frame_Shift_Del_p.P17fs|SMS_ENST00000478094.1_3'UTR NM_004595.4 NP_004586.2 P52788 SPSY_HUMAN spermine synthase 113 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2) 14 Spermine(DB00127) CAGATTACCACCCATAGTGCG 0.473 10 18 --- --- --- ---