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 INPP4B 8821 broad.mit.edu 37 4 143350350 143350350 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:143350350C>T ENST00000513000.1 - 6 545 c.112G>A c.(112-114)Gaa>Aaa p.E38K INPP4B_ENST00000262992.4_Missense_Mutation_p.E38K|INPP4B_ENST00000308502.4_Missense_Mutation_p.E38K|INPP4B_ENST00000507861.1_Missense_Mutation_p.E38K|INPP4B_ENST00000506217.1_Missense_Mutation_p.E38K|INPP4B_ENST00000509777.1_Missense_Mutation_p.E38K|INPP4B_ENST00000508116.1_Missense_Mutation_p.E38K NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 38 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) AACTGCGGTTCATTTGGAGTC 0.274000 3 9 0 0 0.009096 0 0 FAM83B 222584 broad.mit.edu 37 6 54806613 54806613 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:54806613G>A ENST00000306858.7 + 5 2960 c.2844G>A c.(2842-2844)caG>caA p.Q948Q NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 948 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) GCTCTATTCAGCCAACAAGCA 0.438000 13 74 0 0 0.001855 0 0 TRPM6 140803 broad.mit.edu 37 9 77377921 77377921 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:77377921C>T ENST00000451710.3 - 26 3903 c.3666G>A c.(3664-3666)ctG>ctA p.L1222L TRPM6_ENST00000361255.3_Silent_p.L1217L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.L1222L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Silent_p.L1222L|TRPM6_ENST00000449912.2_Silent_p.L1217L Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1222 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 AAAGGACTTTCAGGGTATCCA 0.473000 14 68 0 0 0.006122 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316491 30316491 + Missense_Mutation SNP A A T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:30316491A>T ENST00000375377.1 - 3 2687 c.2586T>A c.(2584-2586)agT>agA p.S862R NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 862 Ser-rich. 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 GCTCCGCCTCACTCTCCTCAc 0.567000 19 66 0 0 0.007413 0 0 KLHL4 56062 broad.mit.edu 37 X 86869550 86869550 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:86869550C>T ENST00000373119.4 + 3 849 c.704C>T c.(703-705)tCc>tTc p.S235F KLHL4_ENST00000373114.4_Missense_Mutation_p.S235F NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 235 BTB. cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 GCACTAAATTCCTTGGTGCAG 0.363000 6 9 0 0 0.001984 0 0 ANK3 288 broad.mit.edu 37 10 62038626 62038626 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:62038626C>T ENST00000280772.1 - 4 511 c.320G>A c.(319-321)gGa>gAa p.G107E ANK3_ENST00000373827.2_Missense_Mutation_p.G101E|ANK3_ENST00000503366.1_Missense_Mutation_p.G90E NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 107 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 TGCTGTGTTTCCTTTCTGTGA 0.388000 17 95 0 0 0.004990 0 0 TBXAS1 6916 broad.mit.edu 37 7 139657436 139657436 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:139657436C>T ENST00000263552.6 + 12 1233 c.695C>T c.(694-696)tCa>tTa p.S232L TBXAS1_ENST00000416849.2_Missense_Mutation_p.S278L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Missense_Mutation_p.S232L|TBXAS1_ENST00000458722.1_Missense_Mutation_p.S277L|TBXAS1_ENST00000436047.2_Missense_Mutation_p.S232L|TBXAS1_ENST00000425687.1_Missense_Mutation_p.S164L|TBXAS1_ENST00000411653.1_Missense_Mutation_p.S231L|TBXAS1_ENST00000336425.5_Missense_Mutation_p.S231L|TBXAS1_ENST00000448866.1_Missense_Mutation_p.S231L NM_001130966.2 NP_001124438.1 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 231 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) TTTCAAGTATCATTTCCATCC 0.453000 34 49 0 0 0.004289 0 0 FRAS1 80144 broad.mit.edu 37 4 79236774 79236774 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:79236774G>A ENST00000264895.6 + 16 2145 c.1705G>A c.(1705-1707)Ggc>Agc p.G569S FRAS1_ENST00000325942.6_Missense_Mutation_p.G569S|FRAS1_ENST00000264899.6_Missense_Mutation_p.G569S NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 569 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 TGACAGTTGTGGCCCCAGTAG 0.488000 21 114 0 0 0.014323 0 0 ANKEF1 63926 broad.mit.edu 37 20 10036182 10036182 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:10036182G>A ENST00000378380.3 + 10 2534 c.2205G>A c.(2203-2205)ctG>ctA p.L735L ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Silent_p.L735L NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 CAGCAGAGCTGATCAGGAAGA 0.438000 7 31 0 0 0.003080 0 0 CSMD1 64478 broad.mit.edu 37 8 2830798 2830798 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:2830798C>T ENST00000520002.1 - 58 9322 c.8767G>A c.(8767-8769)Gat>Aat p.D2923N CSMD1_ENST00000602723.1_Missense_Mutation_p.D2865N|CSMD1_ENST00000400186.3_Missense_Mutation_p.D2865N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D2923N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D2864N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D2922N Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2923 Sushi 22. 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) GTCCCCGGATCACCACAGAAT 0.463000 26 163 0 0 0.005443 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955376 18955376 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:18955376C>T ENST00000302797.3 - 1 1180 c.956G>A c.(955-957)aGa>aAa p.R319K NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 319 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 CTGCTCCAATCTGCTTCCCGA 0.547000 10 88 0 0 0.010729 0 0 DSP 1832 broad.mit.edu 37 6 7585382 7585382 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:7585382G>A ENST00000379802.3 + 24 8228 c.7887G>A c.(7885-7887)gaG>gaA p.E2629E DSP_ENST00000418664.2_Silent_p.E2030E NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 2629 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAAACCTGGAGAAAATCTCCA 0.512000 16 135 0 0 0.004990 0 0 ZAN 7455 broad.mit.edu 37 7 100386863 100386863 + RNA SNP C C G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:100386863C>G ENST00000542585.1 + 0 7396 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane 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) AGATGGCCGTCCCCTACAGGC 0.567000 5 54 0 0 0.001168 0 0 FLRT2 23768 broad.mit.edu 37 14 86089039 86089039 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:86089039G>A ENST00000330753.4 + 2 1948 c.1181G>A c.(1180-1182)aGc>aAc p.S394N FLRT2_ENST00000554746.1_Missense_Mutation_p.S394N NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 394 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) CCTAGCAGAAGCTACACGCCT 0.577000 18 54 0 0 0.004990 0 0 KIAA1804 84451 broad.mit.edu 37 1 233482265 233482265 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:233482265G>A ENST00000366624.3 + 2 1144 c.883G>A c.(883-885)Gaa>Aaa p.E295K MLK4_ENST00000366623.3_Missense_Mutation_p.E295K NM_032435.2 NP_115811.2 GTTGGCGAGGGAATGGCACAG 0.433000 6 30 0 0 0.001168 0 0 CASP10 843 broad.mit.edu 37 2 202074214 202074214 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:202074214C>T ENST00000286186.6 + 9 1779 c.1344C>T c.(1342-1344)tcC>tcT p.S448S CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Silent_p.S448S|CASP10_ENST00000346817.5_Silent_p.S405S|CASP10_ENST00000448480.1_Silent_p.S405S|CASP10_ENST00000360132.3_3'UTR|CASP10_ENST00000313728.7_Silent_p.S381S NM_032977.3 NP_116759.2 Q92851 CASPA_HUMAN caspase 10, apoptosis-related cysteine peptidase 448 apoptosis|induction of apoptosis by extracellular signals|proteolysis cytosol|plasma membrane cysteine-type endopeptidase activity|identical protein binding|protein binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 GCTATGTATCCTTTCGGCATG 0.498000 23 92 0 0 0.002780 0 0 OR2A12 346525 broad.mit.edu 37 7 143792319 143792319 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:143792319G>A ENST00000408949.2 + 1 179 c.119G>A c.(118-120)gGa>gAa p.G40E NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) ACCCTGATGGGAAATGGGATT 0.493000 14 73 0 0 0.004007 0 0 CXCL6 6372 broad.mit.edu 37 4 74702545 74702545 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:74702545C>T ENST00000226317.5 + 1 332 c.78C>T c.(76-78)ctC>ctT p.L26L CXCL6_ENST00000515050.1_Silent_p.L26L NM_002993.3 NP_002984.1 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 26 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding large_intestine(1)|lung(7) 8 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CGCTGCTGCTCCTGCTGACGC 0.721000 7 23 0 0 0.001984 0 0 DSC1 1823 broad.mit.edu 37 18 28710560 28710560 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:28710560G>A ENST00000257198.5 - 16 2863 c.2602C>T c.(2602-2604)Cgg>Tgg p.R868W RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR NM_024421.2 NP_077739.1 Q08554 DSC1_HUMAN desmocollin 1 868 homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) TCTTCCTGCCGATCGCTGCAG 0.433000 16 93 0 0 0.008871 0 0 LPA 4018 broad.mit.edu 37 6 161027540 161027540 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:161027540C>T ENST00000447678.1 - 18 2874 c.2754G>A c.(2752-2754)ccG>ccA p.P918P LPA_ENST00000316300.5_Silent_p.P918P NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3426 Kringle 8. 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) GGCTTGGAATCGGGGTAATAG 0.527000 20 121 0 0 0.003954 0 0 BCAN 63827 broad.mit.edu 37 1 156622522 156622522 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:156622522C>T ENST00000329117.4 + 8 2116 c.1780C>T c.(1780-1782)Ctg>Ttg p.L594L RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Silent_p.L594L NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 594 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGCCCCTTCCCTGCTTCCAGC 0.637000 16 39 0 0 0.004007 0 0 DAB2 1601 broad.mit.edu 37 5 39377003 39377003 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:39377003G>A ENST00000545653.1 - 11 2353 c.1823C>T c.(1822-1824)cCc>cTc p.P608L DAB2_ENST00000339788.6_Missense_Mutation_p.P411L|DAB2_ENST00000320816.6_Missense_Mutation_p.P629L|DAB2_ENST00000509337.1_Missense_Mutation_p.P608L NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 629 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GATGTCCTTGGGAGGGCCAGC 0.527000 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 123 0 0 0.005443 0 0 COL6A3 1293 broad.mit.edu 37 2 238275864 238275864 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:238275864G>A ENST00000295550.4 - 11 5418 c.4966C>T c.(4966-4968)Cag>Tag p.Q1656* COL6A3_ENST00000346358.4_Nonsense_Mutation_p.Q1456*|COL6A3_ENST00000409809.1_Nonsense_Mutation_p.Q1450*|COL6A3_ENST00000353578.4_Nonsense_Mutation_p.Q1450*|COL6A3_ENST00000347401.3_Nonsense_Mutation_p.Q1455*|COL6A3_ENST00000472056.1_Nonsense_Mutation_p.Q1049* NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1656 Nonhelical region.|VWFA 9. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AGCACTTCCTGGAAACTGTCC 0.438000 5 33 0 0 0.001168 0 0 PNPLA7 375775 broad.mit.edu 37 9 140379138 140379138 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:140379138G>A ENST00000406427.1 - 21 2584 c.2248C>T c.(2248-2250)Ccg>Tcg p.P750S PNPLA7_ENST00000371457.1_Missense_Mutation_p.P331S|PNPLA7_ENST00000277531.4_Missense_Mutation_p.P725S NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 725 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TTGACAGCCGGGTTCCCCAAG 0.662000 4 18 0 0 0.009096 0 0 MIR3654 100500804 broad.mit.edu 37 11 62344694 62344694 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:62344694C>T ENST00000496634.2 - 6 1275 c.1230G>A c.(1228-1230)gtG>gtA p.V410V TUT1_ENST00000308436.7_Silent_p.V448V|TUT1_ENST00000476907.1_Silent_p.V410V NS(1) 1 GGAGGGTGTACACGAGGGGCC 0.607000 13 55 0 0 0.002450 0 0 LPAR4 2846 broad.mit.edu 37 X 78010822 78010822 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:78010822G>A ENST00000435339.2 + 2 861 c.456G>A c.(454-456)agG>agA p.R152R LPAR4_ENST00000373301.2_Silent_p.R152R NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 152 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TTAGGACTAGGAGGAATTCTG 0.453000 17 18 0 0 0.004990 0 0 TRHDE 29953 broad.mit.edu 37 12 73012725 73012725 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:73012725G>A ENST00000261180.4 + 13 2337 c.2241G>A c.(2239-2241)gaG>gaA p.E747E TRHDE_ENST00000549138.1_3'UTR NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 747 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 ACCTGTCTGAGGAGAAGGATT 0.388000 12 60 0 0 0.010729 0 0 MPP7 143098 broad.mit.edu 37 10 28413025 28413025 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:28413025C>T ENST00000337532.5 - 9 826 c.550G>A c.(550-552)Gaa>Aaa p.E184K MPP7_ENST00000375732.1_Missense_Mutation_p.E184K|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000445954.2_Missense_Mutation_p.E59K|MPP7_ENST00000540098.1_Missense_Mutation_p.E184K|MPP7_ENST00000375719.3_Missense_Mutation_p.E184K NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 184 PDZ. establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TCCCTAAGTTCATCACCAACA 0.358000 22 87 0 0 0.003330 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715915 13715915 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:13715915C>T ENST00000279593.3 - 13 4466 c.4257G>A c.(4255-4257)ccG>ccA p.P1419P NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1419 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) CCCGGAAGTCCGGCCTGGCTT 0.612000 9 38 0 0 0.004482 0 0 DHFRL1 200895 broad.mit.edu 37 3 93780104 93780104 + Silent SNP T T A rs148600595 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:93780104T>A ENST00000394221.2 - 2 701 c.252A>T c.(250-252)ccA>ccT p.P84P DHFRL1_ENST00000314636.2_Silent_p.P84P|DHFRL1_ENST00000481631.1_Intron NM_001195643.1 NP_001182572.1 Q86XF0 DYRL1_HUMAN dihydrofolate reductase-like 1 84 DHFR. glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process dihydrofolate reductase activity|NADP binding kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 GAGCTCCTTGTGGAGGTTCCT 0.393000 23 74 0 0 0.012319 0 0 ANKS1A 23294 broad.mit.edu 37 6 34949593 34949593 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:34949593C>T ENST00000360359.3 + 4 700 c.562C>T c.(562-564)Ctg>Ttg p.L188L ANKS1A_ENST00000535627.1_Silent_p.L188L NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 188 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CCCTTTGGACCTGGCAGCACT 0.557000 18 97 0 0 0.010504 0 0 BMX 660 broad.mit.edu 37 X 15574231 15574231 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:15574231G>A ENST00000357607.2 + 19 2177 c.1989G>A c.(1987-1989)ctG>ctA p.L663L BMX_ENST00000348343.6_Silent_p.L663L|BMX_ENST00000342014.6_Silent_p.L663L P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 663 Protein kinase. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) AGCAACTCCTGTCTTCCATTG 0.358000 37 57 0 0 0.013114 0 0 SRSF7 6432 broad.mit.edu 37 2 38977196 38977196 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:38977196G>A ENST00000313117.6 - 2 406 c.169C>T c.(169-171)Cct>Tct p.P57S SRSF7_ENST00000446327.2_Missense_Mutation_p.P57S|SRSF7_ENST00000409276.1_Missense_Mutation_p.P57S NM_001031684.2|NM_001195446.1 NP_001026854.1|NP_001182375.1 Q16629 SRSF7_HUMAN serine/arginine-rich splicing factor 7 57 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 GCATCTCTAGGATCTTCGAAT 0.383000 23 72 0 0 0.004656 0 0 OR1S2 219958 broad.mit.edu 37 11 57971483 57971483 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:57971483G>A ENST00000302592.6 - 1 170 c.171C>T c.(169-171)ctC>ctT p.L57L NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) CCACAATGATGAGCCCGTTCC 0.458000 10 70 0 0 0.008291 0 0 TRAV13-2 28670 broad.mit.edu 37 14 22386380 22386380 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:22386380C>T ENST00000390439.2 + 0 18 GGAAGTAGCTCTTATGGCTGG 0.428000 14 65 0 0 0.003163 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530452 5530452 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:5530452T>C ENST00000311659.4 - 2 484 c.337A>G c.(337-339)Agt>Ggt p.S113G HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 113 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GATCCAGGACTTGGGCCCTGG 0.612000 12 53 0 0 0.001855 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368261 86368261 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:86368261C>T ENST00000400286.2 - 2 2981 c.2383G>A c.(2383-2385)Gaa>Aaa p.E795K NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 795 integral to membrane p.E795K(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TTCAGCTCTTCGTGGGCTCCA 0.393000 33 68 0 0 0.013726 0 0 DOCK8 81704 broad.mit.edu 37 9 334291 334291 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:334291C>T ENST00000432829.2 + 11 1304 c.988C>T c.(988-990)Cgg>Tgg p.R330W DOCK8_ENST00000453981.1_Missense_Mutation_p.R398W|DOCK8_ENST00000469391.1_Missense_Mutation_p.R330W NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 398 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GGGGAAATACCGGATGCCCTT 0.443000 9 70 0 0 0.010729 0 0 TTN 7273 broad.mit.edu 37 2 179616325 179616325 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:179616325C>T ENST00000360870.5 - 46 11024 c.10802G>A c.(10801-10803)gGg>gAg p.G3601E TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3596 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) CTCATCTTGCCCTTTTTGGAT 0.383000 15 104 0 0 0.003163 0 0 NLRP8 126205 broad.mit.edu 37 19 56466752 56466752 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:56466752C>T ENST00000291971.3 + 3 1399 c.1328C>T c.(1327-1329)tCc>tTc p.S443F NLRP8_ENST00000590542.1_Missense_Mutation_p.S443F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 443 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) GAGAACTTTTCCAGAAAGATC 0.473000 19 83 0 0 0.012319 0 0 IGHV3-13 28449 broad.mit.edu 37 14 106586347 106586347 + RNA SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:106586347G>A ENST00000390602.2 - 0 217 TACTGAAGGTGAATCCAGAGG 0.567000 19 91 0 0 0.007413 0 0 ALPK2 115701 broad.mit.edu 37 18 56246599 56246599 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:56246599C>T ENST00000361673.3 - 4 1622 c.1409G>A c.(1408-1410)aGa>aAa p.R470K NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 470 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 GTGGCTGTCTCTGGTTTCTCC 0.473000 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 121 0 0 0.004656 0 0 NEB 4703 broad.mit.edu 37 2 152499762 152499762 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:152499762G>A ENST00000427231.2 - 58 8264 c.8062C>T c.(8062-8064)Cat>Tat p.H2688Y NEB_ENST00000604864.1_Missense_Mutation_p.H2688Y|NEB_ENST00000603639.1_Missense_Mutation_p.H2688Y|NEB_ENST00000172853.10_Missense_Mutation_p.H2688Y|NEB_ENST00000409198.1_Missense_Mutation_p.H2688Y|NEB_ENST00000397345.3_Missense_Mutation_p.H2688Y NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 2688 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CGGTAAACATGGTCACTCAAA 0.418000 21 109 0 0 0.012319 0 0 FGFBP3 143282 broad.mit.edu 37 10 93668130 93668130 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:93668130G>A ENST00000311575.5 - 2 760 c.597C>T c.(595-597)ccC>ccT p.P199P NM_152429.4 NP_689642.3 Q8TAT2 FGFP3_HUMAN fibroblast growth factor binding protein 3 199 positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability extracellular region fibroblast growth factor binding|heparin binding p.P199P(1) large_intestine(1)|prostate(1) 2 Colorectal(252;0.162) TCCTCTCTGAGGGGTTTTCTT 0.731000 8 41 0 0 0.004482 0 0 CLGN 1047 broad.mit.edu 37 4 141317270 141317270 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:141317270G>A ENST00000325617.5 - 9 1414 c.974C>T c.(973-975)cCt>cTt p.P325L CLGN_ENST00000414773.1_Missense_Mutation_p.P325L|CLGN_ENST00000537281.1_Missense_Mutation_p.P325L NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 325 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) TTCAGCATTAGGATCAGGGAT 0.363000 15 113 0 0 0.003163 0 0 CSMD2 114784 broad.mit.edu 37 1 33998709 33998709 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:33998709G>A ENST00000373381.4 - 64 10288 c.10112C>T c.(10111-10113)tCc>tTc p.S3371F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3227 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) GCGGTGCTCGGAGCCACCCTT 0.667000 6 24 0 0 0.001168 0 0 REXO1 57455 broad.mit.edu 37 19 1823627 1823627 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:1823627G>A ENST00000170168.4 - 4 2268 c.2174C>T c.(2173-2175)tCc>tTc p.S725F CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 725 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|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) GCCAGGGGCGGAAATGTGGAC 0.716000 6 15 0 0 0.001984 0 0 CCDC147 159686 broad.mit.edu 37 10 106207461 106207461 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:106207461G>A ENST00000369704.3 + 16 2396 c.2262G>A c.(2260-2262)aaG>aaA p.K754K NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 754 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) ACTAGGAAAAGGAGAAACTCT 0.542000 15 82 0 0 0.002450 0 0 TTC18 118491 broad.mit.edu 37 10 75104921 75104921 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:75104921C>T ENST00000401621.2 - 6 631 c.511G>A c.(511-513)Gtc>Atc p.V171I TTC18_ENST00000340329.3_Missense_Mutation_p.V171I|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000394865.1_Missense_Mutation_p.V171I|TTC18_ENST00000310715.3_Missense_Mutation_p.V171I Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 171 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Prostate(51;0.0119) TCCAACGTGACCTTCAGTAGA 0.473000 21 79 0 0 0.008871 0 0 BMP15 9210 broad.mit.edu 37 X 50659565 50659565 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:50659565G>A ENST00000252677.3 + 2 1137 c.1137G>A c.(1135-1137)aaG>aaA p.K379K NM_005448.2 NP_005439.2 O95972 BMP15_HUMAN bone morphogenetic protein 15 379 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1) 26 Ovarian(276;0.236) TTTTGTACAAGGAGTATGAGG 0.458000 9 30 0 0 0.008291 0 0 NF1 4763 broad.mit.edu 37 17 29653263 29653263 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:29653263C>T ENST00000358273.4 + 37 5644 c.5261C>T c.(5260-5262)tCt>tTt p.S1754F NF1_ENST00000356175.3_Missense_Mutation_p.S1733F|NF1_ENST00000581113.2_3'UTR NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1754 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) ACCAAAGTTTCTATTAAAGTA 0.423000 """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) 7 31 0 0 0.004482 0 0 DCDC1 341019 broad.mit.edu 37 11 30902782 30902782 + Missense_Mutation SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:30902782G>T ENST00000597505.1 - 35 5146 c.5147C>A c.(5146-5148)cCa>cAa p.P1716Q P59894 DCDC1_HUMAN doublecortin domain containing 1 222 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) GGACTGAATTGGCTCTCCACT 0.498000 6 56 0.00116845 0.00120599 0.001168 1 0 CACNG6 59285 broad.mit.edu 37 19 54501531 54501531 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:54501531G>A ENST00000252729.2 + 2 960 c.370G>A c.(370-372)Gag>Aag p.E124K CACNG6_ENST00000352529.1_Intron|CACNG6_ENST00000346968.2_Missense_Mutation_p.E124K NM_145814.1 NP_665813.1 Q9BXT2 CCG6_HUMAN calcium channel, voltage-dependent, gamma subunit 6 124 voltage-gated calcium channel complex voltage-gated calcium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.168) CACCACGGGGGAGAATGCACG 0.512000 14 59 0 0 0.003163 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31120239 31120239 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:31120239G>A ENST00000304166.4 + 5 566 c.277G>A c.(277-279)Gaa>Aaa p.E93K ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.E93K|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.E93K|ADCYAP1R1_ENST00000409363.1_Intron NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 93 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 CTGGGAGACCGAAACCATTGG 0.562000 12 56 0 0 0.002450 0 0 KCNN2 3781 broad.mit.edu 37 5 113699644 113699644 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:113699644C>T ENST00000512097.3 + 3 1546 c.528C>T c.(526-528)ctC>ctT p.L176L KCNN2_ENST00000264773.3_Silent_p.L176L|KCNN2_ENST00000507750.1_3'UTR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 176 integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TTATCAGTCTCTCCACGATCA 0.478000 16 86 0 0 0.010504 0 0 BPIFB2 80341 broad.mit.edu 37 20 31607447 31607447 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:31607447C>T ENST00000170150.3 + 11 1166 c.971C>T c.(970-972)cCt>cTt p.P324L NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 324 extracellular region lipid binding GGTGCCACACCTGTGGCCATG 0.672000 16 38 0 0 0.004990 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86509800 86509800 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:86509800G>A ENST00000450689.2 - 22 3262 c.3077C>T c.(3076-3078)tCc>tTc p.S1026F KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S786F|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.S955F|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S859F NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 1026 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) TATATTTGGGGATCTTGAGGT 0.348000 11 48 0 0 0.010729 0 0 CLSTN1 22883 broad.mit.edu 37 1 9809659 9809659 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:9809659G>A ENST00000377298.4 - 7 1637 c.845C>T c.(844-846)gCc>gTc p.A282V CLSTN1_ENST00000361311.4_Missense_Mutation_p.A272V|CLSTN1_ENST00000377288.3_Missense_Mutation_p.A282V NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 282 homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 36 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) TGGAAAGACGGCCAACGCGCC 0.552000 9 70 0 0 0.004482 0 0 TUBD1 51174 broad.mit.edu 37 17 57955542 57955542 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:57955542G>A ENST00000325752.3 - 5 968 c.691C>T c.(691-693)Ctc>Ttc p.L231F TUBD1_ENST00000394239.3_Missense_Mutation_p.L231F|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000376094.4_Missense_Mutation_p.L231F|TUBD1_ENST00000592426.1_Missense_Mutation_p.L231F|TUBD1_ENST00000340993.6_Missense_Mutation_p.L231F|TUBD1_ENST00000539018.1_Missense_Mutation_p.L15F NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 231 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) TGATGTGCGAGGACTTGATTG 0.423000 9 39 0 0 0.006214 0 0 MYH15 22989 broad.mit.edu 37 3 108178266 108178266 + Nonsense_Mutation SNP T T A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:108178266T>A ENST00000273353.3 - 19 2079 c.2023A>T c.(2023-2025)Aaa>Taa p.K675* MYH15_ENST00000495753.2_5'UTR NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 675 Actin-binding (By similarity).|Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GCTGTTGATTTCAGATTAGTC 0.323000 10 42 0 0 0.010729 0 0 GSR 2936 broad.mit.edu 37 8 30538528 30538528 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:30538528C>T ENST00000221130.5 - 12 1402 c.1312G>A c.(1312-1314)Gaa>Aaa p.E438K GSR_ENST00000546342.1_Missense_Mutation_p.E409K|GSR_ENST00000537535.1_Missense_Mutation_p.E356K|GSR_ENST00000414019.1_Missense_Mutation_p.E395K|GSR_ENST00000541648.1_Missense_Mutation_p.E385K NM_000637.3|NM_001195102.1|NM_001195103.1 NP_000628.2|NP_001182031.1|NP_001182032.1 P00390 GSHR_HUMAN glutathione reductase 438 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 23 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) TTCACATTTTCTATTCCATAT 0.353000 13 68 0 0 0.013537 0 0 ITPR3 3710 broad.mit.edu 37 6 33636831 33636831 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:33636831G>A ENST00000374316.5 + 19 3147 c.2087G>A c.(2086-2088)tGg>tAg p.W696* ITPR3_ENST00000605930.1_Nonsense_Mutation_p.W696* Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 696 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TGGCTCACGTGGACTGACAAG 0.587000 21 112 0 0 0.002780 0 0 MVB12B 89853 broad.mit.edu 37 9 129154425 129154425 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:129154425C>T ENST00000361171.3 + 5 571 c.490C>T c.(490-492)Cgg>Tgg p.R164W MVB12B_ENST00000436593.3_Missense_Mutation_p.R149W|MVB12B_ENST00000545391.1_Missense_Mutation_p.R164W|MVB12B_ENST00000535766.1_Missense_Mutation_p.R157W NM_033446.2 NP_258257.1 multivesicular body subunit 12B TTGTGACATTCGGATCATGGG 0.488000 26 101 0 0 0.004656 0 0 FANCG 2189 broad.mit.edu 37 9 35079438 35079438 + Splice_Site SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:35079438C>T ENST00000378643.3 - 1 575 c.84_splice c.e1+1 p.K28_splice NM_004629.1 NP_004620.1 O15287 FANCG_HUMAN Fanconi anemia, complementation group G 28 cell cycle checkpoint|DNA repair|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) ACCGTGTTACCTTGGCCTGTC 0.612000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 23 83 0 0 0.003330 0 0 XKR4 114786 broad.mit.edu 37 8 56436718 56436718 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:56436718C>T ENST00000327381.5 + 3 1985 c.1885C>T c.(1885-1887)Cct>Tct p.P629S NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 629 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) TTCCCCATCTCCTCCAAGGCT 0.453000 12 46 0 0 0.001855 0 0 PRSS37 136242 broad.mit.edu 37 7 141536960 141536960 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:141536960C>T ENST00000350549.3 - 4 890 c.519G>A c.(517-519)agG>agA p.R173R PRSS37_ENST00000438520.1_Silent_p.R173R NM_001008270.2|NM_001171951.1 NP_001008271.2|NP_001165422.1 A4D1T9 PRS37_HUMAN protease, serine, 37 173 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3) 15 ATAAGGAATTCCTGTGGCTTT 0.453000 6 56 0 0 0.001168 0 0 OGDHL 55753 broad.mit.edu 37 10 50946248 50946248 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:50946248C>T ENST00000374103.4 - 18 2465 c.2380G>A c.(2380-2382)Gat>Aat p.D794N OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Missense_Mutation_p.D737N|OGDHL_ENST00000432695.1_Missense_Mutation_p.D585N NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 794 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGGTAGGCATCCGAGTCATCA 0.622000 11 70 0 0 0.010729 0 0 OR10H1 26539 broad.mit.edu 37 19 15918755 15918755 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:15918755G>A ENST00000334920.2 - 1 181 c.93C>T c.(91-93)ttC>ttT p.F31F NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 31 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 ACATCAGCAGGAACAGCAGGA 0.592000 19 81 0 0 0.002780 0 0 GABRB1 2560 broad.mit.edu 37 4 47427981 47427981 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:47427981C>T ENST00000295454.3 + 9 1663 c.1371C>T c.(1369-1371)ttC>ttT p.F457F GABRB1_ENST00000538619.1_Silent_p.F387F NM_000812.3 NP_000803.2 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 1 457 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) GAATGTTTTTCCCCATCACCT 0.458000 19 81 0 0 0.008871 0 0 C1orf173 127254 broad.mit.edu 37 1 75037778 75037778 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:75037778C>T ENST00000326665.5 - 14 3834 c.3616G>A c.(3616-3618)Gaa>Aaa p.E1206K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1206 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CGGTGCCCTTCCTTCAGGGCC 0.592000 28 115 0 0 0.006320 0 0 OR7G3 390883 broad.mit.edu 37 19 9237276 9237276 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9237276C>T ENST00000305444.2 - 1 350 c.351G>A c.(349-351)atG>atA p.M117I NM_001001958.1 NP_001001958.1 Q8NG95 OR7G3_HUMAN olfactory receptor, family 7, subfamily G, member 3 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 CATAGGCCATCATGACCAGAA 0.483000 25 79 0 0 0.004656 0 0 TENM4 26011 broad.mit.edu 37 11 78413133 78413133 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:78413133C>T ENST00000278550.7 - 28 4987 c.4525G>A c.(4525-4527)Gcc>Acc p.A1509T NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CCACTGGGGGCCCCAGCAACG 0.468000 6 14 0 0 0.001984 0 0 RASSF1 11186 broad.mit.edu 37 3 50368147 50368147 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:50368147G>A ENST00000359365.4 - 6 994 c.888C>T c.(886-888)ttC>ttT p.F296F RASSF1_ENST00000395126.3_Silent_p.F145F|RASSF1_ENST00000327761.3_Silent_p.F226F|RASSF1_ENST00000357043.2_Silent_p.F300F NM_001206957.1|NM_007182.4|NM_170714.1 NP_001193886.1|NP_009113.3|NP_733832.1 Q9NS23 RASF1_HUMAN Ras association (RalGDS/AF-6) domain family member 1 300 SARAH. cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CAGGCATGCTGAAGGCGTCCC 0.572000 11 57 0 0 0.008291 0 0 SNAP91 9892 broad.mit.edu 37 6 84269917 84269917 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:84269917C>T ENST00000428679.2 - 28 3130 c.2537G>A c.(2536-2538)gGg>gAg p.G846E SNAP91_ENST00000439399.2_Missense_Mutation_p.G846E|SNAP91_ENST00000195649.6_Missense_Mutation_p.G841E|SNAP91_ENST00000437520.1_Missense_Mutation_p.G539E|SNAP91_ENST00000521743.1_Missense_Mutation_p.G846E|SNAP91_ENST00000520302.1_Missense_Mutation_p.G816E|SNAP91_ENST00000369694.2_Missense_Mutation_p.G846E|SNAP91_ENST00000521485.1_Missense_Mutation_p.G841E|SNAP91_ENST00000520213.1_Missense_Mutation_p.G539E O60641 AP180_HUMAN synaptosomal-associated protein, 91kDa 846 Pro-rich. clathrin coat assembly clathrin coat|coated pit|plasma membrane 1-phosphatidylinositol binding|clathrin binding breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0967) CATGCCTGTCCCAGCAGGAGG 0.547000 13 68 0 0 0.004007 0 0 STAB1 23166 broad.mit.edu 37 3 52541961 52541961 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:52541961G>A ENST00000321725.6 + 20 2143 c.2067G>A c.(2065-2067)aaG>aaA p.K689K NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 689 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTTCCCCAAGGAGTGTGTCT 0.577000 14 68 0 0 0.004990 0 0 IGHV4-28 28400 broad.mit.edu 37 14 106780818 106780818 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:106780818C>T ENST00000390612.2 - 0 118 GACAGGACCACTGTGAACAGA 0.607000 19 34 0 0 0.008871 0 0 ITGB3 3690 broad.mit.edu 37 17 45377887 45377887 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:45377887G>A ENST00000559488.1 + 12 1973 c.1957G>A c.(1957-1959)Gac>Aac p.D653N ITGB3_ENST00000560629.1_Silent_p.*641*|ITGB3_ENST00000435993.2_Missense_Mutation_p.D606N NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 653 GALHD -> EPYMT (in Ref. 1; AAA52589, 2; AAA60122 and 4; AAB71380). activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) AGCCCTACATGACGAAAATAC 0.473000 6 31 0 0 0.008291 0 0 TLL2 7093 broad.mit.edu 37 10 98154973 98154973 + Missense_Mutation SNP T T G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:98154973T>G ENST00000357947.3 - 13 1922 c.1697A>C c.(1696-1698)aAa>aCa p.K566T TLL2_ENST00000469598.1_5'UTR NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 566 CUB 2. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) AAAGCCCGCTTTATTGATAGA 0.468000 27 130 0 0 0.009535 0 0 ZNF536 9745 broad.mit.edu 37 19 31039149 31039149 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:31039149G>A ENST00000355537.3 + 4 2770 c.2623G>A c.(2623-2625)Ggc>Agc p.G875S NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 875 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GCAGGCCACGGGCATGTCTTC 0.552000 19 80 0 0 0.008871 0 0 HSD17B3 3293 broad.mit.edu 37 9 99013729 99013729 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:99013729G>A ENST00000375263.3 - 5 471 c.424C>T c.(424-426)Cat>Tat p.H142Y HSD17B3_ENST00000375262.2_Missense_Mutation_p.H142Y NM_000197.1 NP_000188.1 P37058 DHB3_HUMAN hydroxysteroid (17-beta) dehydrogenase 3 142 androgen biosynthetic process|male genitalia development endoplasmic reticulum membrane|microsome binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214) NADH(DB00157) TTCAGGAAATGGCTTGGGAGA 0.463000 11 49 0 0 0.008291 0 0 ZIC4 84107 broad.mit.edu 37 3 147113803 147113803 + Missense_Mutation SNP C C A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:147113803C>A ENST00000383075.3 - 3 1036 c.524G>T c.(523-525)tGg>tTg p.W175L ZIC4_ENST00000425731.3_Missense_Mutation_p.W213L|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000484399.1_Missense_Mutation_p.W175L|ZIC4_ENST00000525172.2_Missense_Mutation_p.W225L|ZIC4_ENST00000473123.1_Missense_Mutation_p.W175L NM_032153.5 NP_115529.2 Q8N9L1 ZIC4_HUMAN Zic family member 4 175 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 ACACTCCTCCCAGAAGCAAAT 0.577000 10 210 1.76689e-08 1.83439e-08 0.006214 1 0 TENM3 55714 broad.mit.edu 37 4 183675993 183675993 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:183675993G>A ENST00000511685.1 + 22 4596 c.4473G>A c.(4471-4473)ggG>ggA p.G1491G TENM3_ENST00000406950.2_Silent_p.G1491G|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 CAGATCTAGGGAATATCCGGA 0.468000 13 62 0 0 0.004007 0 0 H6PD 9563 broad.mit.edu 37 1 9324635 9324635 + Missense_Mutation SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:9324635G>T ENST00000377403.2 + 5 2385 c.2083G>T c.(2083-2085)Gcc>Tcc p.A695S H6PD_ENST00000602477.1_Missense_Mutation_p.A706S NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 695 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GGGCATGGGTGCCGACGGGCA 0.682000 17 72 6.94344e-10 7.23702e-10 0.006122 1 0 C6orf15 29113 broad.mit.edu 37 6 31079422 31079422 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:31079422G>A ENST00000259870.3 - 2 717 c.714C>T c.(712-714)atC>atT p.I238I NM_014070.2 NP_054789.2 Q6UXA7 CF015_HUMAN chromosome 6 open reading frame 15 238 Gly-rich. endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1) 17 TGATACCCCAGATTCCCTCAG 0.567000 14 52 0 0 0.002450 0 0 RAD51B 5890 broad.mit.edu 37 14 68353891 68353891 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:68353891G>A ENST00000487270.1 + 7 774 c.726G>A c.(724-726)ttG>ttA p.L242L RAD51B_ENST00000390683.3_Silent_p.L242L|RAD51B_ENST00000487861.1_Silent_p.L242L|RAD51B_ENST00000471583.1_Silent_p.L242L|RAD51B_ENST00000488612.1_Silent_p.L242L|RAD51B_ENST00000469165.2_3'UTR NM_133509.3 NP_598193.2 O15315 RA51B_HUMAN RAD51 paralog B 242 blood coagulation|DNA repair|reciprocal meiotic recombination nucleoplasm ATP binding|DNA binding|DNA-dependent ATPase activity HMGA2/RAD51B(11) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 11 CATCCTCCTTGAAGTATTTGG 0.358000 Direct reversal of damage 13 49 0 0 0.001855 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373762 86373762 + Missense_Mutation SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:86373762A>G ENST00000604798.1 - 8 1946 c.742T>C c.(742-744)Tac>Cac p.Y248H MGAT4C_ENST00000393205.2_Missense_Mutation_p.Y277H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.Y248H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.Y248H|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.Y248H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.Y248H Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 248 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding p.Y248H(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GTTACCCAGTAAGTTCCTTCT 0.348000 6 37 0 0 0.001168 0 0 EFTUD2 9343 broad.mit.edu 37 17 42941122 42941122 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:42941122G>A ENST00000426333.2 - 15 1611 c.1314C>T c.(1312-1314)atC>atT p.I438I EFTUD2_ENST00000592576.1_Silent_p.I428I|EFTUD2_ENST00000591382.1_Silent_p.I438I|EFTUD2_ENST00000402521.3_Silent_p.I403I NM_001142605.1|NM_001258354.1|NM_004247.3 NP_001136077.1|NP_001245283.1|NP_004238.3 Q15029 U5S1_HUMAN elongation factor Tu GTP binding domain containing 2 438 Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck GTP binding|GTPase activity|protein binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 32 Prostate(33;0.109) TTGGAGAAGGGATATGCTGCA 0.547000 20 91 0 0 0.003330 0 0 OR2M4 26245 broad.mit.edu 37 1 248402677 248402677 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:248402677G>A ENST00000306687.1 + 1 447 c.447G>A c.(445-447)tgG>tgA p.W149* NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 149 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) TTGCTTCCTGGACCTTGGGGT 0.463000 15 80 0 0 0.003163 0 0 TMEM176B 28959 broad.mit.edu 37 7 150489193 150489193 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:150489193G>A ENST00000447204.2 - 6 1043 c.671C>T c.(670-672)tCc>tTc p.S224F TMEM176B_ENST00000492607.1_Missense_Mutation_p.S224F|TMEM176B_ENST00000434545.1_Missense_Mutation_p.S224F|TMEM176B_ENST00000326442.5_Missense_Mutation_p.S224F|TMEM176B_ENST00000429904.2_Missense_Mutation_p.S224F|TMEM176B_ENST00000450753.2_Missense_Mutation_p.S187F NM_014020.3 NP_054739.3 Q3YBM2 T176B_HUMAN transmembrane protein 176B 224 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) TACTCCCAAGGAAACCAAGGA 0.547000 15 49 0 0 0.004007 0 0 TTN 7273 broad.mit.edu 37 2 179439727 179439727 + Missense_Mutation SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:179439727A>G ENST00000589042.1 - 326 71356 c.71132T>C c.(71131-71133)aTt>aCt p.I23711T TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I21143T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I14838T|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I14646T|TTN_ENST00000591111.1_Missense_Mutation_p.I22070T|TTN_ENST00000359218.5_Missense_Mutation_p.I14771T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22070 Fibronectin type-III 72. 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) CTCTCCTACAATGTTCCTTGC 0.403000 3 36 0 0 0.004672 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530615 5530615 + Silent SNP G G A rs139187349 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:5530615G>A ENST00000311659.4 - 2 321 c.174C>T c.(172-174)ccC>ccT p.P58P HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 58 Ubiquitin-like. NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAAGCTGATCGGGGTGGGCCT 0.507000 30 106 0 0 0.012213 0 0 NAV3 89795 broad.mit.edu 37 12 78598739 78598739 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:78598739G>A ENST00000397909.2 + 39 7032 c.6859G>A c.(6859-6861)Gaa>Aaa p.E2287K NAV3_ENST00000536525.2_Missense_Mutation_p.E2265K|NAV3_ENST00000266692.7_Missense_Mutation_p.E2088K|NAV3_ENST00000228327.6_Missense_Mutation_p.E2265K|NAV3_ENST00000541270.1_Missense_Mutation_p.E117K Q8IVL0 NAV3_HUMAN neuron navigator 3 2287 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CACACCATGGGAAGATCCTTC 0.458000 HNSCC(70;0.22) 4 19 0 0 0.009096 0 0 DPYSL5 56896 broad.mit.edu 37 2 27164914 27164914 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:27164914C>T ENST00000288699.6 + 10 1344 c.1186C>T c.(1186-1188)Ccc>Tcc p.P396S DPYSL5_ENST00000401478.1_Missense_Mutation_p.P396S NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 396 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCATTATTCCCGGAGCCGA 0.532000 OREG0014510 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 138 0 0 0.012213 0 0 STC1 6781 broad.mit.edu 37 8 23702445 23702445 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:23702445G>A ENST00000290271.2 - 4 865 c.582C>T c.(580-582)ttC>ttT p.F194F STC1_ENST00000524323.1_Silent_p.F125F NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 194 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) GCAGGATGTGGAAGAGGCTGG 0.532000 14 74 0 0 0.003163 0 0 INPP4B 8821 broad.mit.edu 37 4 143235912 143235912 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:143235912G>A ENST00000513000.1 - 9 809 c.376C>T c.(376-378)Cga>Tga p.R126* INPP4B_ENST00000262992.4_Nonsense_Mutation_p.R126*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.R126*|INPP4B_ENST00000509777.1_Nonsense_Mutation_p.R126*|INPP4B_ENST00000508116.1_Nonsense_Mutation_p.R126* NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 126 C2. signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) ACACTGGTTCGAACCTGTGGA 0.448000 35 115 0 0 0.006999 0 0 ZBTB18 10472 broad.mit.edu 37 1 244217202 244217202 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:244217202C>T ENST00000358704.4 + 2 275 c.126C>T c.(124-126)gcC>gcT p.A42A NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 TGGGAGATGCCCAGTTCCGAG 0.488000 15 57 0 0 0.003163 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190278 209190278 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:209190278C>T ENST00000264380.4 + 20 2901 c.2743C>T c.(2743-2745)Cct>Tct p.P915S NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 915 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 CCCCTGGGATCCTGACATCCC 0.502000 5 44 0 0 0.000602 0 0 SH3GL2 6456 broad.mit.edu 37 9 17791333 17791333 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:17791333G>A ENST00000380607.4 + 7 848 c.e7+1 SH3GL2_ENST00000537391.1_Splice_Site NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) TGGAAGAAAGGTATTCTACAG 0.428000 18 85 0 0 0.007413 0 0 SCN2A 6326 broad.mit.edu 37 2 166243504 166243504 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:166243504G>A ENST00000357398.3 + 26 5090 c.4800G>A c.(4798-4800)gtG>gtA p.V1600V SCN2A_ENST00000283256.6_Silent_p.V1600V|SCN2A_ENST00000375427.2_Silent_p.V1600V|SCN2A_ENST00000375437.2_Silent_p.V1600V Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1600 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) TTGATTTTGTGGTGGTCATTC 0.333000 19 69 0 0 0.012319 0 0 TMEM117 84216 broad.mit.edu 37 12 44781975 44781975 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:44781975C>T ENST00000266534.3 + 8 1192 c.1065C>T c.(1063-1065)acC>acT p.T355T TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.T251T|TMEM117_ENST00000551577.1_3'UTR NM_032256.1 NP_115632.1 Q9H0C3 TM117_HUMAN transmembrane protein 117 355 endoplasmic reticulum|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1) 23 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.124) TGAACAGAACCAAGCTATCCT 0.398000 13 51 0 0 0.013537 0 0 FAT4 79633 broad.mit.edu 37 4 126371171 126371171 + Silent SNP G G A rs142357260 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:126371171G>A ENST00000394329.3 + 9 9013 c.9000G>A c.(8998-9000)acG>acA p.T3000T FAT4_ENST00000335110.5_Silent_p.T1298T NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3000 Cadherin 29. 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 AGGTTGGTACGAAGTTAATCA 0.318000 7 46 0 0 0.001984 0 0 ACACB 32 broad.mit.edu 37 12 109677704 109677704 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:109677704G>A ENST00000338432.7 + 35 4851 c.4732G>A c.(4732-4734)Gtg>Atg p.V1578M ACACB_ENST00000377848.3_Missense_Mutation_p.V1578M|ACACB_ENST00000543201.1_Missense_Mutation_p.V244M|ACACB_ENST00000377854.5_Missense_Mutation_p.V1508M O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1578 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CGAGCTGGAGGTGGCGTTCAA 0.592000 7 34 0 0 0.001984 0 0 CHRNA6 8973 broad.mit.edu 37 8 42611307 42611307 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:42611307G>A ENST00000276410.2 - 5 1390 c.1035C>T c.(1033-1035)ttC>ttT p.F345F CHRNA6_ENST00000534622.1_Silent_p.F330F NM_004198.3 NP_004189.1 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 (neuronal) 345 cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1) 22 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GCAGCTTCAGGAAAACTGTCT 0.572000 11 62 0 0 0.013537 0 0 TPCN2 219931 broad.mit.edu 37 11 68855350 68855350 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:68855350C>T ENST00000294309.3 + 25 2289 c.2188C>T c.(2188-2190)Ctg>Ttg p.L730L TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.L548L NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 730 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CAGGGATATTCTGGAGGAGCC 0.622000 5 30 0 0 0.000602 0 0 PRSS55 203074 broad.mit.edu 37 8 10390447 10390447 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:10390447G>A ENST00000328655.3 + 4 670 c.630G>A c.(628-630)atG>atA p.M210I PRSS55_ENST00000522210.1_Missense_Mutation_p.M210I|PRSS51_ENST00000523024.1_RNA NM_198464.3 NP_940866.2 Q6UWB4 PRS55_HUMAN protease, serine, 55 210 Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1) 31 CGGATCTGATGAAAGCGCCAA 0.478000 16 58 0 0 0.006122 0 0 FIBIN 387758 broad.mit.edu 37 11 27016142 27016142 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:27016142C>T ENST00000318627.2 + 1 515 c.69C>T c.(67-69)ccC>ccT p.P23P NM_203371.1 NP_976249.1 Q8TAL6 FIBIN_HUMAN fin bud initiation factor homolog (zebrafish) 23 extracellular region|Golgi apparatus breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1) 11 TCGATGGCCCCCTCTACCCAG 0.542000 8 58 0 0 0.008291 0 0 IL1B 3553 broad.mit.edu 37 2 113588878 113588878 + Silent SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:113588878T>C ENST00000263341.2 - 6 798 c.588A>G c.(586-588)ctA>ctG p.L196L IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 196 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) CCTCCAGCTGTAGAGTGGGCT 0.493000 40 175 0 0 0.011902 0 0 FSIP2 401024 broad.mit.edu 37 2 186697897 186697897 + Nonsense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:186697897C>T ENST00000343098.5 + 23 20935 c.20935C>T c.(20935-20937)Caa>Taa p.Q6979* FSIP2_ENST00000424728.1_Nonsense_Mutation_p.Q6890* NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 GGTGTTTTCTCAATGTAACAC 0.378000 4 31 0 0 0.000602 0 0 DGCR2 9993 broad.mit.edu 37 22 19055628 19055628 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:19055628G>A ENST00000545799.1 - 3 513 c.313C>T c.(313-315)Ccc>Tcc p.P105S DGCR2_ENST00000263196.7_Missense_Mutation_p.P105S|DGCR2_ENST00000537045.1_Missense_Mutation_p.P64S P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 105 cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) AAGCGAACGGGCTGCGCCACG 0.642000 8 35 0 0 0.006214 0 0 ATP4A 495 broad.mit.edu 37 19 36054383 36054383 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:36054383C>T ENST00000262623.3 - 2 87 c.59G>A c.(58-60)gGg>gAg p.G20E NM_000704.2 NP_000695.2 P20648 ATP4A_HUMAN ATPase, H+/K+ exchanging, alpha polypeptide 20 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) AGCCATGTCCCCGCCAGGGCC 0.577000 45 156 0 0 0.011902 0 0 FAT3 120114 broad.mit.edu 37 11 92086457 92086457 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:92086457C>T ENST00000298047.6 + 1 1196 c.1179C>T c.(1177-1179)gtC>gtT p.V393V FAT3_ENST00000409404.2_Silent_p.V393V|FAT3_ENST00000525166.1_Silent_p.V243V|FAT3_ENST00000541502.1_Silent_p.V393V Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 393 Cadherin 4. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.V393V(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CTCCTGGTGTCGTGGTTGCTA 0.423000 TCGA Ovarian(4;0.039) 94 450 0 0 0.014410 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6311567 6311567 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:6311567G>A ENST00000400104.3 - 3 258 c.58C>T c.(58-60)Cag>Tag p.Q20* L3MBTL4_ENST00000317931.7_Nonsense_Mutation_p.Q20*|L3MBTL4_ENST00000284898.6_Nonsense_Mutation_p.Q20*|L3MBTL4_ENST00000400105.2_Nonsense_Mutation_p.Q20* Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 20 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CGTCCGTCCTGATCCAAACGC 0.483000 51 236 0 0 0.014410 0 0 NRK 203447 broad.mit.edu 37 X 105179208 105179208 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:105179208C>T ENST00000428173.2 + 21 3852 c.3549C>T c.(3547-3549)ccC>ccT p.P1183P NRK_ENST00000243300.9_Silent_p.P1182P Q7Z2Y5 NRK_HUMAN Nik related kinase 1182 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 CTAAGCAACCCTCTGAAGTCA 0.408000 HNSCC(51;0.14) 23 59 0 0 0.002780 0 0 KCNQ3 3786 broad.mit.edu 37 8 133175718 133175718 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:133175718G>A ENST00000388996.4 - 9 1679 c.1259C>T c.(1258-1260)tCc>tTc p.S420F KCNQ3_ENST00000521134.1_Missense_Mutation_p.S300F|KCNQ3_ENST00000519445.1_Missense_Mutation_p.S420F NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 420 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) AACTTACCTGGATGCTGCCTC 0.453000 7 50 0 0 0.003080 0 0 IGFN1 91156 broad.mit.edu 37 1 201182705 201182705 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:201182705C>T ENST00000335211.4 + 12 8814 c.8684C>T c.(8683-8685)tCc>tTc p.S2895F IGFN1_ENST00000451870.2_Missense_Mutation_p.S438F|IGFN1_ENST00000295591.8_Missense_Mutation_p.S55F NM_001164586.1 NP_001158058.1 immunoglobulin-like and fibronectin type III domain containing 1 autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 AGTTCCACATCCAGATACAAG 0.587000 8 54 0 0 0.004482 0 0 RERG 85004 broad.mit.edu 37 12 15262170 15262170 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:15262170C>T ENST00000256953.2 - 5 810 c.474G>A c.(472-474)gaG>gaA p.E158E RERG_ENST00000546331.1_Silent_p.E139E|RERG_ENST00000536465.1_Silent_p.E158E|RERG_ENST00000538313.1_Silent_p.E158E NM_032918.2 NP_116307.1 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 158 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 16 CATAGAATATCTCTGTGATGT 0.537000 24 71 0 0 0.003330 0 0 IGDCC4 57722 broad.mit.edu 37 15 65676747 65676747 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:65676747C>T ENST00000352385.2 - 20 3562 c.3353G>A c.(3352-3354)aGg>aAg p.R1118K IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1118 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 TGACTTCTTCCTCCCATTGCC 0.512000 23 133 0 0 0.002780 0 0 SHMT2 6472 broad.mit.edu 37 12 57628077 57628077 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:57628077C>T ENST00000328923.3 + 12 1900 c.1448C>T c.(1447-1449)gCc>gTc p.A483V SHMT2_ENST00000449049.3_Missense_Mutation_p.A462V|SHMT2_ENST00000414700.3_Missense_Mutation_p.A462V|SHMT2_ENST00000393827.4_Missense_Mutation_p.A387V|SHMT2_ENST00000557487.1_Missense_Mutation_p.A473V|SHMT2_ENST00000553474.1_Missense_Mutation_p.A462V NM_001166356.1|NM_005412.5 NP_001159828.1|NP_005403.2 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 483 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CAGCGTCTGGCCAACCTCAGG 0.527000 17 105 0 0 0.006122 0 0 RPLP0P2 113157 broad.mit.edu 37 11 61404369 61404369 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:61404369C>T ENST00000496593.1 + 0 973 NR_002775.2 GAAAACAGCCCAGCTCTGGAG 0.592000 6 18 0 0 0.004482 0 0 ANO4 121601 broad.mit.edu 37 12 101493391 101493391 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:101493391G>A ENST00000392979.3 + 21 2298 c.1937G>A c.(1936-1938)cGa>cAa p.R646Q ANO4_ENST00000392977.3_Missense_Mutation_p.R681Q|ANO4_ENST00000550015.1_Missense_Mutation_p.R201Q|ANO4_ENST00000299222.9_Missense_Mutation_p.R201Q NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 681 chloride channel complex chloride channel activity p.R646Q(2) NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 AGAAAAGTACGACAAGAACAT 0.353000 HNSCC(74;0.22) 9 47 0 0 0.008291 0 0 SLC16A7 9194 broad.mit.edu 37 12 60168885 60168885 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:60168885C>T ENST00000261187.4 + 4 973 c.809C>T c.(808-810)cCa>cTa p.P270L SLC16A7_ENST00000547379.1_Missense_Mutation_p.P270L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.P270L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.P171L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.P270L NM_001270622.1|NM_001270623.1|NM_004731.3 NP_001257551.1|NP_001257552.1|NP_004722.2 O60669 MOT2_HUMAN solute carrier family 16 (monocarboxylate transporter), member 7 270 integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1) 30 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TTCTTGGCTCCATATGCTAAA 0.373000 12 45 0 0 0.010729 0 0 CSMD1 64478 broad.mit.edu 37 8 3205627 3205627 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:3205627G>A ENST00000520002.1 - 23 3919 c.3364C>T c.(3364-3366)Cca>Tca p.P1122S CSMD1_ENST00000602723.1_Missense_Mutation_p.P1122S|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1122S|CSMD1_ENST00000602557.1_Missense_Mutation_p.P1122S|CSMD1_ENST00000542608.1_Missense_Mutation_p.P1121S|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1121S|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1121S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1122 CUB 7. 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) TAATTGGATGGAAAATTTGGA 0.393000 7 23 0 0 0.003080 0 0 BTBD11 121551 broad.mit.edu 37 12 108029142 108029142 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:108029142C>T ENST00000280758.5 + 12 3240 c.2712C>T c.(2710-2712)atC>atT p.I904I BTBD11_ENST00000494235.2_5'UTR|BTBD11_ENST00000357167.4_Silent_p.I441I|BTBD11_ENST00000420571.2_Silent_p.I785I|BTBD11_ENST00000490090.2_Silent_p.I904I NM_001018072.1 NP_001018082.1 A6QL63 BTBDB_HUMAN BTB (POZ) domain containing 11 904 integral to membrane DNA binding p.I904I(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 TCACAGAAATCAAACGGAAAC 0.532000 11 80 0 0 0.008291 0 0 OR6B1 135946 broad.mit.edu 37 7 143701780 143701780 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:143701780G>A ENST00000408922.2 + 1 759 c.691G>A c.(691-693)Gga>Aga p.G231R NM_001005281.1 NP_001005281.1 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, member 1 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 27 Melanoma(164;0.0783) CATGCCCACAGGAAAGCAGAA 0.463000 53 142 0 0 0.014410 0 0 RGS11 8786 broad.mit.edu 37 16 321083 321083 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:321083C>T ENST00000397770.3 - 13 896 c.879G>A c.(877-879)acG>acA p.T293T ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.T282T|RGS11_ENST00000316163.5_Silent_p.T272T O94810 RGS11_HUMAN regulator of G-protein signaling 11 293 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CACGGAGCTTCGTGGGGGCAG 0.682000 4 33 0 0 0.009096 0 0 RGPD3 653489 broad.mit.edu 37 2 107041038 107041038 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:107041038C>T ENST00000409886.3 - 20 3472 c.3385G>A c.(3385-3387)Gca>Aca p.A1129T RGPD3_ENST00000304514.7_Missense_Mutation_p.A1129T NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1129 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CACATCCATGCTCTATCTGAT 0.428000 39 164 0 0 0.008740 0 0 C1orf106 55765 broad.mit.edu 37 1 200868692 200868692 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:200868692G>A ENST00000367342.4 + 3 602 c.402G>A c.(400-402)ctG>ctA p.L134L C1orf106_ENST00000413687.2_Silent_p.L49L NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 134 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 AGGCCTGCCTGGAGGAGCTGA 0.652000 7 18 0 0 0.001984 0 0 SLA2 84174 broad.mit.edu 37 20 35269686 35269686 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:35269686G>A ENST00000262866.4 - 2 475 c.53C>T c.(52-54)tCc>tTc p.S18F SLA2_ENST00000360672.2_Missense_Mutation_p.S18F NM_032214.3|NM_175077.2 NP_115590.1|NP_778252.1 Q9H6Q3 SLAP2_HUMAN Src-like-adaptor 2 18 antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane protein N-terminus binding|SH3/SH2 adaptor activity endometrium(1)|lung(2)|skin(2) 5 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) TTGGACAGAGGAACTCAAGCT 0.542000 10 99 0 0 0.008291 0 0 GCKR 2646 broad.mit.edu 37 2 27726447 27726447 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:27726447G>A ENST00000264717.2 + 9 774 c.711G>A c.(709-711)caG>caA p.Q237Q GCKR_ENST00000424318.2_Silent_p.Q47Q NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 237 SIS 1. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) AGAAAATGCAGGAGAAACAGA 0.507000 5 27 0 0 0.000602 0 0 NLRP4 147945 broad.mit.edu 37 19 56369627 56369627 + Nonsense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:56369627C>T ENST00000301295.6 + 3 1290 c.868C>T c.(868-870)Cag>Tag p.Q290* NLRP4_ENST00000587891.1_Nonsense_Mutation_p.Q215*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q290* NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 290 NACHT. ATP binding p.Q290*(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCTCCGGGATCAGGTGACGAT 0.537000 20 75 0 0 0.010504 0 0 INMT-FAM188B 100526825 broad.mit.edu 37 7 30791901 30791901 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:30791901C>T ENST00000458257.1 + 1 149 c.135C>T c.(133-135)ctC>ctT p.L45L INMT_ENST00000013222.5_Silent_p.L45L|INMT_ENST00000484180.1_Intron|INMT_ENST00000409539.1_Silent_p.L45L TGGAATGTCTCCACAAGACCT 0.592000 12 71 0 0 0.010729 0 0 IFNA21 3452 broad.mit.edu 37 9 21166419 21166419 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:21166419C>T ENST00000380225.1 - 1 240 c.193G>A c.(193-195)Gag>Aag p.E65K NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 65 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 NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCATCAAACTCCTCCTGGGGG 0.507000 30 122 0 0 0.010818 0 0 ATP11A 23250 broad.mit.edu 37 13 113439572 113439572 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:113439572G>A ENST00000487903.1 + 2 250 c.e2+1 ATP11A_ENST00000375630.2_Splice_Site|ATP11A_ENST00000375645.3_Splice_Site|ATP11A_ENST00000283558.8_Splice_Site P98196 AT11A_HUMAN ATPase, class VI, type 11A 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(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 51 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_lung(25;0.134)|all_epithelial(44;0.141) CTCGTCCAAGGTAACTTGGCT 0.577000 33 65 0 0 0.004289 0 0 MUC16 94025 broad.mit.edu 37 19 9084051 9084051 + Silent SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9084051T>C ENST00000397910.4 - 1 7967 c.7764A>G c.(7762-7764)gaA>gaG p.E2588E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2588 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 TAGCTGAAGTTTCCCAGTTTG 0.458000 19 87 0 0 0.010504 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481130 27481130 + Missense_Mutation SNP T T A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:27481130T>A ENST00000233535.4 - 3 675 c.323A>T c.(322-324)cAc>cTc p.H108L SLC30A3_ENST00000447008.2_Missense_Mutation_p.H103L NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 108 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCCAGCAAGTGGGCTGCATC 0.577000 10 36 0 0 0.013537 0 0 ATG5 9474 broad.mit.edu 37 6 106696042 106696042 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:106696042G>A ENST00000369076.3 - 6 879 c.556C>T c.(556-558)Ccc>Tcc p.P186S ATG5_ENST00000369070.1_Missense_Mutation_p.P108S|ATG5_ENST00000343245.3_Missense_Mutation_p.P186S|ATG5_ENST00000360666.4_Silent_p.S62S NM_004849.2 NP_004840.1 Q9H1Y0 ATG5_HUMAN autophagy related 5 186 apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification autophagic vacuole|pre-autophagosomal structure membrane protein binding endometrium(1)|large_intestine(5)|lung(1)|prostate(1) 8 Breast(9;0.0296) all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216) BRCA - Breast invasive adenocarcinoma(8;0.00802) OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18) ATTCTAAAGGGGATATAACGA 0.328000 4 49 0 0 0.009096 0 0 FCN3 8547 broad.mit.edu 37 1 27697178 27697178 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:27697178G>A ENST00000270879.4 - 7 572 c.567C>T c.(565-567)aaC>aaT p.N189N FCN3_ENST00000354982.2_Silent_p.N178N NM_003665.2 NP_003656.2 O75636 FCN3_HUMAN ficolin (collagen/fibrinogen domain containing) 3 189 Fibrinogen C-terminal. complement activation, lectin pathway|signal transduction collagen|extracellular space receptor binding|sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1) 7 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CGAAAGTACGGTTACCATTAA 0.582000 26 135 0 0 0.006320 0 0 HYDIN 54768 broad.mit.edu 37 16 71212830 71212830 + Splice_Site SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:71212830C>T ENST00000393567.2 - 4 532 c.e4+1 HYDIN_ENST00000541601.1_Splice_Site|HYDIN_ENST00000448691.1_Splice_Site|HYDIN_ENST00000538248.1_Splice_Site|HYDIN_ENST00000393550.2_Splice_Site|HYDIN_ENST00000321489.5_Splice_Site|HYDIN_ENST00000448089.2_Splice_Site|HYDIN_ENST00000288168.10_Splice_Site NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 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) AACATACTCACTTTGTCATTG 0.378000 26 92 0 0 0.010818 0 0 USP15 9958 broad.mit.edu 37 12 62790089 62790089 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:62790089C>T ENST00000280377.5 + 20 2643 c.2585C>T c.(2584-2586)tCg>tTg p.S862L USP15_ENST00000353364.3_Missense_Mutation_p.S833L|USP15_ENST00000393654.3_Missense_Mutation_p.S837L NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 862 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.S833L(1) 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) TTGGATATGTCGGAATTCTTA 0.378000 6 31 0 0 0.003080 0 0 A2ML1 144568 broad.mit.edu 37 12 8998064 8998064 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:8998064G>A ENST00000299698.7 + 13 1683 c.1503G>A c.(1501-1503)atG>atA p.M501I A2ML1_ENST00000539547.1_Missense_Mutation_p.M10I|A2ML1_ENST00000540049.1_3'UTR NM_144670.4 NP_653271.2 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 345 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GTTTGGTGATGGAGGGGCAGA 0.393000 8 35 0 0 0.006214 0 0 DKK2 27123 broad.mit.edu 37 4 107845316 107845316 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:107845316C>T ENST00000285311.3 - 4 1280 c.575G>A c.(574-576)gGg>gAg p.G192E DKK2_ENST00000510463.1_Missense_Mutation_p.G146E|DKK2_ENST00000513208.1_Missense_Mutation_p.G92E NM_014421.2 NP_055236.1 Q9UBU2 DKK2_HUMAN dickkopf WNT signaling pathway inhibitor 2 192 DKK-type Cys-2. multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway extracellular space autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;6.34e-06) ACAGCAAAACCCTTCAATGCA 0.473000 11 56 0 0 0.008291 0 0 EFCAB13 124989 broad.mit.edu 37 17 45456594 45456594 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:45456594G>A ENST00000331493.2 + 14 1968 c.1557G>A c.(1555-1557)aaG>aaA p.K519K EFCAB13_ENST00000517484.1_Silent_p.K423K NM_152347.4 NP_689560.3 EF-hand calcium binding domain 13 CTCTCGCCAAGGAGCGAAGTT 0.358000 6 44 0 0 0.003080 0 0 HCN1 348980 broad.mit.edu 37 5 45262128 45262128 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:45262128G>A ENST00000303230.4 - 8 2625 c.2568C>T c.(2566-2568)gtC>gtT p.V856V NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 856 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 GTGCTGGAGGGACTCCTCGGT 0.602000 21 97 0 0 0.004656 0 0 IGF2R 3482 broad.mit.edu 37 6 160496916 160496916 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:160496916C>T ENST00000356956.1 + 36 5352 c.5204C>T c.(5203-5205)cCa>cTa p.P1735L NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1735 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ATACTCAATCCAATAGCAAAT 0.428000 17 76 0 0 0.004990 0 0 IGHV1OR21-1 390530 broad.mit.edu 37 21 10862823 10862823 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr21:10862823C>T ENST00000559480.1 + 0 119 breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1) 26 GTGAAGGTCTCCTGCAAGGCT 0.572000 10 135 0 0 0.008291 0 0 ZNF385D 79750 broad.mit.edu 37 3 21462796 21462796 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:21462796G>A ENST00000281523.2 - 8 1616 c.1098C>T c.(1096-1098)ttC>ttT p.F366F NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 366 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 CGGAAGTCTGGAACAGTGTTG 0.567000 6 14 0 0 0.001984 0 0 JMJD6 23210 broad.mit.edu 37 17 74714855 74714855 + Missense_Mutation SNP A A C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:74714855A>C ENST00000445478.2 - 6 1371 c.1168T>G c.(1168-1170)Tcc>Gcc p.S390A JMJD6_ENST00000585429.1_Silent_p.P343P|JMJD6_ENST00000397625.4_Missense_Mutation_p.S390A NM_001081461.1 NP_001074930.1 Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 390 mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2) 16 TCGTCCTGGGAGGTGGTGTCC 0.627000 4 63 0 0 0.000602 0 0 BCAN 63827 broad.mit.edu 37 1 156622499 156622499 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:156622499G>A ENST00000329117.4 + 8 2093 c.1757G>A c.(1756-1758)gGa>gAa p.G586E RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.G586E NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 586 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GAGGAGACAGGAAGCTCCGAG 0.622000 17 59 0 0 0.006122 0 0 UBXN7 26043 broad.mit.edu 37 3 196083650 196083650 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:196083650G>A ENST00000296328.4 - 11 1450 c.1376C>T c.(1375-1377)cCt>cTt p.P459L UBXN7_ENST00000535858.1_Missense_Mutation_p.P311L|UBXN7_ENST00000428095.1_Missense_Mutation_p.P297L NM_015562.1 NP_056377.1 O94888 UBXN7_HUMAN UBX domain protein 7 459 UBX. protein binding NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 18 TTTCCTTCGAGGAAAGTTGGT 0.393000 9 32 0 0 0.004482 0 0 CLVS1 157807 broad.mit.edu 37 8 62289219 62289219 + Missense_Mutation SNP G G A rs143211270 by1000genomes TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:62289219G>A ENST00000519846.1 + 4 983 c.511G>A c.(511-513)Gaa>Aaa p.E171K CLVS1_ENST00000518592.1_5'UTR|CLVS1_ENST00000325897.4_Missense_Mutation_p.E171K Q8IUQ0 CLVS1_HUMAN clavesin 1 171 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.E171K(1) endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 AGTCCTAATCGAAGATCCGGA 0.438000 7 71 0 0 0.003080 0 0 IQUB 154865 broad.mit.edu 37 7 123150072 123150072 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:123150072G>A ENST00000466202.1 - 3 991 c.415C>T c.(415-417)Cca>Tca p.P139S IQUB_ENST00000324698.6_Missense_Mutation_p.P139S|IQUB_ENST00000434450.1_Missense_Mutation_p.P139S|IQUB_ENST00000488987.1_Intron Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 139 Ubiquitin-like. breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TGGCCCACTGGAATAAGTACA 0.313000 16 147 0 0 0.004990 0 0 SDAD1 55153 broad.mit.edu 37 4 76879014 76879014 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:76879014C>T ENST00000356260.5 - 18 1682 c.1564G>A c.(1564-1566)Gaa>Aaa p.E522K SDAD1_ENST00000395711.4_Missense_Mutation_p.E485K NM_018115.2 NP_060585.2 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 522 protein transport|ribosomal large subunit biogenesis nucleolus protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTTGCTGTTCTTCATCGGAA 0.408000 49 204 0 0 0.014410 0 0 GON4L 54856 broad.mit.edu 37 1 155753808 155753808 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:155753808G>A ENST00000437809.1 - 14 1983 c.1861C>T c.(1861-1863)Cgt>Tgt p.R621C GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.R621C|GON4L_ENST00000361040.5_Missense_Mutation_p.R621C|GON4L_ENST00000271883.5_Missense_Mutation_p.R621C Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 621 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) AAGTTAGGACGAGGCTCAGCT 0.453000 26 68 0 0 0.010818 0 0 INHBB 3625 broad.mit.edu 37 2 121106868 121106868 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:121106868G>A ENST00000295228.3 + 2 688 c.642G>A c.(640-642)atG>atA p.M214I NM_002193.2 NP_002184.2 P09529 INHBB_HUMAN inhibin, beta B 214 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GGTGGAACATGGTGGAGAAGA 0.632000 23 109 0 0 0.003954 0 0 LRRC7 57554 broad.mit.edu 37 1 70555461 70555461 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:70555461G>A ENST00000310961.5 + 25 4682 c.4264G>A c.(4264-4266)Gga>Aga p.G1422R LRRC7_ENST00000035383.5_Missense_Mutation_p.G1464R|LRRC7_ENST00000415775.2_Missense_Mutation_p.G748R Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1464 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 TATCAGTGGTGGAATTAGTGG 0.303000 10 41 0 0 0.002450 0 0 TAOK1 57551 broad.mit.edu 37 17 27835062 27835062 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:27835062T>C ENST00000261716.3 + 14 2006 c.1487T>C c.(1486-1488)tTa>tCa p.L496S TAOK1_ENST00000536202.1_Missense_Mutation_p.L496S NM_020791.2 NP_065842.1 Q7L7X3 TAOK1_HUMAN TAO kinase 1 496 mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 Colorectal(6;0.198) CGCCTCAGATTAGACAAAGAT 0.423000 6 17 0 0 0.001984 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918821 51918821 + Splice_Site SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:51918821C>T ENST00000353836.5 - 6 1294 c.e6+1 SIGLEC10_ENST00000356298.5_Splice_Site|SIGLEC10_ENST00000339313.5_Splice_Site|SIGLEC10_ENST00000432469.2_Splice_Site|SIGLEC10_ENST00000436984.2_Splice_Site|SIGLEC10_ENST00000441969.3_Splice_Site|SIGLEC10_ENST00000442846.3_Splice_Site|SIGLEC10_ENST00000439889.2_Splice_Site|SIGLEC10_ENST00000525998.1_Splice_Site NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CCCTTTCCTACCTGTCCTGTT 0.617000 30 127 0 0 0.013726 0 0 TENM4 26011 broad.mit.edu 37 11 78437253 78437253 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:78437253C>T ENST00000278550.7 - 23 3883 c.3421G>A c.(3421-3423)Gaa>Aaa p.E1141K NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 GATTCATATTCATAACCCACG 0.483000 34 158 0 0 0.004878 0 0 PKD1L1 168507 broad.mit.edu 37 7 47832359 47832359 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:47832359C>T ENST00000289672.2 - 56 8442 c.8392G>A c.(8392-8394)Gaa>Aaa p.E2798K NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2798 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ATCAGAAGTTCGTCTAACAGA 0.403000 10 36 0 0 0.010729 0 0 TTLL4 9654 broad.mit.edu 37 2 219617597 219617597 + Missense_Mutation SNP C C A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:219617597C>A ENST00000392102.1 + 17 3428 c.3088C>A c.(3088-3090)Cat>Aat p.H1030N TTLL4_ENST00000442769.1_Missense_Mutation_p.H966N|TTLL4_ENST00000258398.4_Missense_Mutation_p.H1030N|TTLL4_ENST00000457313.1_Missense_Mutation_p.H865N NM_014640.4 NP_055455.3 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 1030 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) TTTTCCTTCTCATATCTCCTC 0.448000 26 107 4.7796e-09 4.96704e-09 0.004656 1 0 CFB 629 broad.mit.edu 37 6 31895861 31895861 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:31895861C>T ENST00000456570.1 + 2 231 c.176C>T c.(175-177)cCa>cTa p.P59L C2_ENST00000442278.2_Intron|C2_ENST00000299367.5_Missense_Mutation_p.P59L|C2_ENST00000469372.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.P59L|C2_ENST00000452323.2_Intron|CFB_ENST00000556679.1_Missense_Mutation_p.P59L|CFB_ENST00000477310.1_Missense_Mutation_p.P59L P00751 CFAB_HUMAN complement factor B 70 Sushi 1. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TACCCATCCCCAGCATCACGG 0.632000 33 330 0 0 0.003271 0 0 USP2 9099 broad.mit.edu 37 11 119243981 119243981 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:119243981G>A ENST00000260187.2 - 2 504 c.210C>T c.(208-210)tcC>tcT p.S70S USP2_ENST00000455332.2_Intron|RP11-334E6.3_ENST00000530918.2_RNA NM_004205.4 NP_004196.4 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 70 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 24 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) AGTCCAGGAGGGAGGAGGGGC 0.637000 21 115 0 0 0.014323 0 0 DTX4 23220 broad.mit.edu 37 11 58962779 58962779 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:58962779C>T ENST00000227451.3 + 7 1577 c.1473C>T c.(1471-1473)tcC>tcT p.S491S DTX4_ENST00000532982.1_Silent_p.S385S NM_015177.1 NP_055992.1 Q9Y2E6 DTX4_HUMAN deltex homolog 4 (Drosophila) 491 Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) TCCCCCACTCCTTGCCTGGCC 0.562000 16 34 0 0 0.004990 0 0 SLC9A4 389015 broad.mit.edu 37 2 103128671 103128671 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:103128671C>T ENST00000295269.4 + 7 1955 c.1498C>T c.(1498-1500)Cac>Tac p.H500Y NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 500 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 GCTGATGGATCACTTAAAGGC 0.443000 20 118 0 0 0.014323 0 0 RETSAT 54884 broad.mit.edu 37 2 85581623 85581623 + Missense_Mutation SNP A A T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:85581623A>T ENST00000295802.4 - 1 120 c.8T>A c.(7-9)cTt>cAt p.L3H RETSAT_ENST00000457495.2_Missense_Mutation_p.L3H|RETSAT_ENST00000263854.6_Missense_Mutation_p.L3H NM_017750.3 NP_060220.3 Q6NUM9 RETST_HUMAN retinol saturase (all-trans-retinol 13,14-reductase) 3 retinol metabolic process endoplasmic reticulum membrane|nuclear outer membrane all-trans-retinol 13,14-reductase activity|electron carrier activity NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 30 Vitamin A(DB00162) CACCAGCGGAAGCCACATCAC 0.612000 26 95 0 0 0.005443 0 0 ZNF831 128611 broad.mit.edu 37 20 57828183 57828183 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:57828183G>A ENST00000371030.2 + 4 4178 c.4178G>A c.(4177-4179)cGa>cAa p.R1393Q NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1393 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) ATGGACAAACGAACTGTGAAG 0.468000 20 121 0 0 0.002780 0 0 HSF5 124535 broad.mit.edu 37 17 56540236 56540236 + Missense_Mutation SNP T T G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:56540236T>G ENST00000323777.3 - 4 1558 c.1449A>C c.(1447-1449)caA>caC p.Q483H NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 483 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGACATGAGCTTGCTGGATGG 0.473000 35 125 0 0 0.004878 0 0 ABCB5 340273 broad.mit.edu 37 7 20762706 20762706 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:20762706C>T ENST00000404938.2 + 21 3141 c.2489C>T c.(2488-2490)tCc>tTc p.S830F ABCB5_ENST00000258738.6_Missense_Mutation_p.S385F NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 385 regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GTTATCATTTCCTTTATATAT 0.413000 21 58 0 0 0.012319 0 0 POTEE 445582 broad.mit.edu 37 2 132021752 132021752 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:132021752C>T ENST00000356920.5 + 15 2818 c.2724C>T c.(2722-2724)atC>atT p.I908I POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 908 Actin-like. ATP binding AGCGGGAAATCGTGCGTGACA 0.602000 15 128 0 0 0.014323 0 0 MUC13 56667 broad.mit.edu 37 3 124642407 124642407 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:124642407C>T ENST00000311075.3 - 3 639 c.601G>A c.(601-603)Ggg>Agg p.G201R NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 201 EGF-like 1. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 TAGTAATACCCTTCTAAACAC 0.418000 8 57 0 0 0.003080 0 0 YTHDF1 54915 broad.mit.edu 37 20 61834905 61834905 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:61834905G>A ENST00000370339.3 - 4 728 c.387C>T c.(385-387)ttC>ttT p.F129F YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Silent_p.F79F NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 129 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 CCCATGCTGAGAACGCAGGGT 0.567000 24 49 0 0 0.002780 0 0 ADAM23 8745 broad.mit.edu 37 2 207310197 207310197 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:207310197C>T ENST00000264377.3 + 2 709 c.381C>T c.(379-381)agC>agT p.S127S ADAM23_ENST00000374415.3_Silent_p.S127S|ADAM23_ENST00000374416.1_Silent_p.S127S NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 127 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) ACTCGGAAAGCCCTTATCACG 0.403000 22 134 0 0 0.002780 0 0 CDH22 64405 broad.mit.edu 37 20 44869675 44869675 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:44869675C>T ENST00000372262.3 - 2 877 c.477G>A c.(475-477)caG>caA p.Q159Q CDH22_ENST00000537909.1_Silent_p.Q159Q NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 159 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CATTGATGTCCTGCACCTTGA 0.647000 16 100 0 0 0.007413 0 0 MRO 83876 broad.mit.edu 37 18 48333212 48333212 + Nonsense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:48333212C>T ENST00000428869.2 - 5 366 c.108G>A c.(106-108)tgG>tgA p.W36* MRO_ENST00000431965.2_Nonsense_Mutation_p.W50*|MRO_ENST00000398439.3_Nonsense_Mutation_p.W36*|MRO_ENST00000436348.2_Nonsense_Mutation_p.W50*|MRO_ENST00000256425.2_Nonsense_Mutation_p.W36*|MRO_ENST00000587291.1_Intron|MRO_ENST00000588444.1_Nonsense_Mutation_p.W36* Q9BYG7 MSTRO_HUMAN maestro 36 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) ACCTCAGTTTCCAAGAGACCT 0.468000 18 108 0 0 0.008871 0 0 CHAT 1103 broad.mit.edu 37 10 50859978 50859978 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:50859978G>A ENST00000395562.2 + 12 1783 c.1314G>A c.(1312-1314)ggG>ggA p.G438G CHAT_ENST00000455728.2_Silent_p.G402G|CHAT_ENST00000337653.2_Silent_p.G520G|CHAT_ENST00000351556.3_Silent_p.G402G|CHAT_ENST00000395559.2_Silent_p.G402G|CHAT_ENST00000339797.1_Silent_p.G402G NM_001142933.1|NM_001142934.1 NP_001136405.1|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 520 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity p.G520G(1) central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ACAACTATGGGAAAACATTCA 0.413000 5 26 0 0 0.000602 0 0 TFCP2L1 29842 broad.mit.edu 37 2 122005761 122005761 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:122005761C>T ENST00000263707.5 - 5 580 c.483G>A c.(481-483)aaG>aaA p.K161K NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 161 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) CAGAAGCTCTCTTCGCAGGGT 0.552000 4 30 0 0 0.009096 0 0 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42129028 42129028 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:42129028C>T ENST00000542534.1 + 7 792 c.752C>T c.(751-753)cCt>cTt p.P251L JMJD7-PLA2G4B_ENST00000476036.1_Intron|JMJD7_ENST00000397299.4_Missense_Mutation_p.P251L|JMJD7-PLA2G4B_ENST00000342159.4_Intron|JMJD7-PLA2G4B_ENST00000382448.4_Intron|JMJD7_ENST00000408047.1_Missense_Mutation_p.P152L NM_001114632.1 NP_001108104.1 P0C869 PA24B_HUMAN 0 PLA2c. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2) 25 GCACGGTACCCTAGTTACAGT 0.657000 8 21 0 0 0.004482 0 0 SOS2 6655 broad.mit.edu 37 14 50649216 50649216 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:50649216G>A ENST00000216373.5 - 6 1097 c.823C>T c.(823-825)Ccc>Tcc p.P275S SOS2_ENST00000543680.1_Missense_Mutation_p.P275S NM_006939.2 NP_008870.2 Q07890 SOS2_HUMAN son of sevenless homolog 2 (Drosophila) 275 DH. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1) 39 all_epithelial(31;0.000822)|Breast(41;0.0065) CCAGCTAAGGGATGAGGACTG 0.333000 8 28 0 0 0.008291 0 0 PLXNA4 91584 broad.mit.edu 37 7 131865476 131865476 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:131865476G>A ENST00000359827.3 - 19 4470 c.3508C>T c.(3508-3510)Ccg>Tcg p.P1170S PLXNA4_ENST00000321063.4_Missense_Mutation_p.P1170S Q9HCM2 PLXA4_HUMAN plexin A4 1170 IPT/TIG 4. integral to membrane|intracellular|plasma membrane p.P1170S(1) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GCCACAGGCGGGATCAGGTTC 0.597000 9 45 0 0 0.010729 0 0 DNHD1 144132 broad.mit.edu 37 11 6519800 6519800 + Nonsense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:6519800C>T ENST00000254579.6 + 3 919 c.355C>T c.(355-357)Caa>Taa p.Q119* DNHD1_ENST00000354685.3_Nonsense_Mutation_p.Q119*|DNHD1_ENST00000527990.2_Nonsense_Mutation_p.Q119*|DNHD1_ENST00000477562.1_3'UTR NM_144666.2 NP_653267.2 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 119 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) ACCCTGGGTCCAAACCCACCT 0.562000 18 136 0 0 0.006122 0 0 RGR 5995 broad.mit.edu 37 10 86017671 86017671 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:86017671G>A ENST00000359452.4 + 6 703 c.665G>A c.(664-666)aGg>aAg p.R222K RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_Intron NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 218 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 CTGCCAGCAAGGACGCTGCTG 0.552000 7 46 0 0 0.006214 0 0 PXDNL 137902 broad.mit.edu 37 8 52320904 52320904 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:52320904C>T ENST00000356297.4 - 17 3380 c.3280G>A c.(3280-3282)Gaa>Aaa p.E1094K PXDNL_ENST00000543296.1_Missense_Mutation_p.E1094K NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1094 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) ATCCCACCTTCCTTGATTATT 0.532000 13 60 0 0 0.002450 0 0 KRT34 3885 broad.mit.edu 37 17 39535632 39535632 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:39535632C>T ENST00000394001.1 - 5 1005 c.975G>A c.(973-975)gaG>gaA p.E325E NM_021013.3 NP_066293.2 O76011 KRT34_HUMAN keratin 34 325 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural molecule activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Breast(137;0.000496) GCAGCTCGATCTCCAGGGCGT 0.607000 9 67 0 0 0.006214 0 0 NWD1 284434 broad.mit.edu 37 19 16918857 16918857 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:16918857G>A ENST00000524140.2 + 18 4615 c.4197G>A c.(4195-4197)aaG>aaA p.K1399K NWD1_ENST00000552788.1_Silent_p.K1399K|NWD1_ENST00000549814.1_Silent_p.K1357K|NWD1_ENST00000379808.3_Silent_p.K1399K|NWD1_ENST00000339803.6_Silent_p.K1264K|NWD1_ENST00000523826.1_Silent_p.K1193K NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1399 K -> R (in Ref. 1; CAH18655). 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 TCAGCCACAAGGAGCAGCTGG 0.582000 12 100 0 0 0.001855 0 0 NLRP2 55655 broad.mit.edu 37 19 55496462 55496462 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:55496462C>T ENST00000543010.1 + 7 2221 c.2078C>T c.(2077-2079)tCc>tTc p.S693F NLRP2_ENST00000448584.2_Missense_Mutation_p.S693F|NLRP2_ENST00000427260.2_Missense_Mutation_p.S670F|NLRP2_ENST00000391721.4_Missense_Mutation_p.S669F|NLRP2_ENST00000339757.7_Missense_Mutation_p.S671F|NLRP2_ENST00000263437.6_Missense_Mutation_p.S690F|NLRP2_ENST00000538819.1_Missense_Mutation_p.S669F|NLRP2_ENST00000537859.1_Missense_Mutation_p.S671F NM_001174081.1 NP_001167552.1 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 693 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GACCTTTGTTCCATATTTGGA 0.448000 20 90 0 0 0.008871 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54913059 54913059 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:54913059G>A ENST00000293373.6 + 16 1647 c.1568G>A c.(1567-1569)cGa>cAa p.R523Q NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R473Q NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 523 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 TTCCACTCCCGAATGCTGGAC 0.468000 13 59 0 0 0.013537 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37419225 37419225 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:37419225C>T ENST00000374660.1 + 3 360 c.261C>T c.(259-261)ctC>ctT p.L87L ANKRD30A_ENST00000361713.1_Silent_p.L87L|ANKRD30A_ENST00000602533.1_Silent_p.L87L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 143 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ACACGGCTCTCCATTATGCTG 0.443000 3 21 0 0 0.009096 0 0 ENOX1 55068 broad.mit.edu 37 13 43935540 43935540 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:43935540C>T ENST00000261488.6 - 6 834 c.257G>A c.(256-258)gGa>gAa p.G86E ENOX1_ENST00000412891.1_Missense_Mutation_p.G86E NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 86 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) GGGGGTGATTCCAGTCATCAT 0.433000 9 70 0 0 0.010729 0 0 HOXD3 3232 broad.mit.edu 37 2 177036879 177036879 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:177036879C>T ENST00000468418.3 + 4 3266 c.1176C>T c.(1174-1176)gcC>gcT p.A392A HOXD3_ENST00000410016.1_Silent_p.A392A|HOXD3_ENST00000249440.3_Silent_p.A392A P31249 HXD3_HUMAN homeobox D3 392 anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 23 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.247) ACAGTTGCGCCGCGCAGATTC 0.662000 4 30 0 0 0.001168 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20905384 20905384 + Missense_Mutation SNP A A T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:20905384A>T ENST00000381552.1 + 15 2532 c.2164A>T c.(2164-2166)Att>Ttt p.I722F SLCO1C1_ENST00000266509.2_Missense_Mutation_p.R687S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R638S|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.I604F|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.I722F Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 0 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) TGTCTACAAGATTCCAAAAGG 0.348000 4 16 0 0 0.000602 0 0 TELO2 9894 broad.mit.edu 37 16 1551694 1551694 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:1551694C>T ENST00000262319.6 + 11 1671 c.1392C>T c.(1390-1392)ccC>ccT p.P464P NM_016111.3 NP_057195.2 Q9Y4R8 TELO2_HUMAN telomere maintenance 2 464 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CGGCAGAGCCCCCTGCAGAGA 0.627000 11 70 0 0 0.002450 0 0 CDK19 23097 broad.mit.edu 37 6 110953310 110953310 + Nonsense_Mutation SNP A A T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:110953310A>T ENST00000368911.3 - 6 748 c.569T>A c.(568-570)tTg>tAg p.L190* CDK19_ENST00000323817.3_Nonsense_Mutation_p.L130*|CDK19_ENST00000413605.2_Nonsense_Mutation_p.L66* NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 190 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 TACTGGATCCAAATCTGCTAG 0.348000 9 44 0 0 0.006214 0 0 CRB1 23418 broad.mit.edu 37 1 197297845 197297845 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:197297845G>A ENST00000367400.3 + 2 499 c.364G>A c.(364-366)Gga>Aga p.G122R CRB1_ENST00000535699.1_Missense_Mutation_p.G53R|CRB1_ENST00000367399.2_Missense_Mutation_p.G122R|CRB1_ENST00000538660.1_Missense_Mutation_p.G122R NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 122 EGF-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTGCCAACATGGAGGTATTTG 0.493000 5 26 0 0 0.000602 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5969550 5969550 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:5969550C>T ENST00000284898.6 - 18 1683 c.1483G>A c.(1483-1485)Gag>Aag p.E495K L3MBTL4_ENST00000317931.7_Missense_Mutation_p.E486K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.E495K|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.E299K NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 495 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) TGCGCCTGCTCCACCGAGTAT 0.622000 15 29 0 0 0.004990 0 0 TMEM105 284186 broad.mit.edu 37 17 79287683 79287683 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:79287683C>T ENST00000332900.1 - 3 707 c.158G>A c.(157-159)aGg>aAg p.R53K NM_178520.3 NP_848615.1 Q8N8V8 TM105_HUMAN transmembrane protein 105 53 integral to membrane NS(1)|large_intestine(3)|lung(1)|ovary(2) 7 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) GGGAGACGTCCTCGGGCCCTG 0.607000 24 106 0 0 0.003330 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408105 105408105 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:105408105G>A ENST00000333244.5 - 7 13802 c.13683C>T c.(13681-13683)ctC>ctT p.L4561L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4561 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) GGGGGCCCTTGAGGTCCACTT 0.617000 44 215 0 0 0.014410 0 0 CACNG3 10368 broad.mit.edu 37 16 24373037 24373037 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:24373037C>T ENST00000005284.3 + 4 2003 c.801C>T c.(799-801)ctC>ctT p.L267L NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 267 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) TGTTCACCCTCTCCCGGGACC 0.567000 19 95 0 0 0.012319 0 0 CDC42EP4 23580 broad.mit.edu 37 17 71281578 71281578 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:71281578G>A ENST00000335793.3 - 2 1456 c.1062C>T c.(1060-1062)atC>atT p.I354I CDC42EP4_ENST00000439510.2_Silent_p.I284I|CDC42EP4_ENST00000581014.1_3'UTR Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 354 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) CTCACACACGGATTTCATCCT 0.642000 25 80 0 0 0.006320 0 0 PSG7 5676 broad.mit.edu 37 19 43439767 43439767 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:43439767C>T ENST00000446844.3 - 0 308 PSG7_ENST00000406070.2_RNA Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) GGTAGAGGTCCCTGATTTGTC 0.428000 41 165 0 0 0.006999 0 0 LDLRAD4 753 broad.mit.edu 37 18 13438253 13438253 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:13438253C>T ENST00000361205.4 + 4 719 c.51C>T c.(49-51)ttC>ttT p.F17F LDLRAD4_ENST00000399848.3_Silent_p.F17F|LDLRAD4_ENST00000359446.5_Silent_p.F17F NM_001276249.1|NM_181481.3 NP_001263178.1|NP_852146.1 low density lipoprotein receptor class A domain containing 4 AGTGCAAATTCACCTGCACCA 0.458000 12 53 0 0 0.010729 0 0 NXF1 10482 broad.mit.edu 37 11 62563933 62563933 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:62563933G>A ENST00000532297.1 - 15 1914 c.1286_splice c.e15+1 p.R429_splice NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Splice_Site_p.R429_splice Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 429 NTF2. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GATACTAACCGGGCAGGGTTC 0.562000 22 64 0 0 0.004656 0 0 MUC16 94025 broad.mit.edu 37 19 9060457 9060457 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9060457T>C ENST00000397910.4 - 3 27192 c.26989A>G c.(26989-26991)Aca>Gca p.T8997A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8999 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 AGGGTGGATGTTGACTCCATC 0.498000 28 94 0 0 0.010818 0 0 CCDC94 55702 broad.mit.edu 37 19 4267768 4267768 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:4267768C>T ENST00000262962.7 + 7 924 c.856C>T c.(856-858)Cca>Tca p.P286S NM_018074.4 NP_060544.2 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 286 NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2) 7 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) GGCCCCCACCCCAGGTAAGGT 0.657000 OREG0025164 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 10 0 0 0.004672 0 0 FGA 2243 broad.mit.edu 37 4 155505387 155505387 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:155505387C>T ENST00000302053.3 - 6 2568 c.2490G>A c.(2488-2490)agG>agA p.R830R NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 830 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GACTGTTATTCCTTGGGTCAT 0.488000 27 102 0 0 0.005443 0 0 ZNF560 147741 broad.mit.edu 37 19 9577729 9577729 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9577729C>T ENST00000301480.4 - 10 2107 c.1894G>A c.(1894-1896)Gac>Aac p.D632N NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 632 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 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 TTCCCACAGTCCTTATATTCA 0.378000 17 75 0 0 0.006122 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073323 17073323 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:17073323C>T ENST00000359963.3 - 1 377 c.118G>A c.(118-120)Gtc>Atc p.V40I NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 40 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) AGGGTCTGGACTGCAGCCAAG 0.642000 14 58 0 0 0.003163 0 0 EPPK1 83481 broad.mit.edu 37 8 144945289 144945289 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:144945289G>A ENST00000525985.1 - 2 2204 c.2133C>T c.(2131-2133)atC>atT p.I711I P58107 EPIPL_HUMAN epiplakin 1 711 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) GCTCCCGGACGATGAGGCCCT 0.687000 16 69 0 0 0.004990 0 0 FAT3 120114 broad.mit.edu 37 11 92616244 92616244 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:92616244C>T ENST00000298047.6 + 23 12639 c.12622C>T c.(12622-12624)Ccg>Tcg p.P4208S FAT3_ENST00000409404.2_Missense_Mutation_p.P4208S|FAT3_ENST00000525166.1_Missense_Mutation_p.P4058S|FAT3_ENST00000533797.1_Missense_Mutation_p.P543S Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 4208 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) CAATGGCATCCCGTTCCGGAA 0.652000 TCGA Ovarian(4;0.039) 72 299 0 0 0.014410 0 0 CDYL2 124359 broad.mit.edu 37 16 80654830 80654830 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:80654830G>A ENST00000299564.8 - 4 992 c.837C>T c.(835-837)atC>atT p.I279I CDYL2_ENST00000562812.1_Silent_p.I280I|CDYL2_ENST00000563890.1_Silent_p.I280I|CDYL2_ENST00000566173.1_Silent_p.I280I NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 279 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 CTTCTTTCATGATCTGCCGGC 0.582000 3 11 0 0 0.009096 0 0 MACC1 346389 broad.mit.edu 37 7 20193960 20193960 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:20193960G>A ENST00000400331.5 - 6 2510 c.2202C>T c.(2200-2202)atC>atT p.I734I MACC1_ENST00000589011.1_Silent_p.I734I|MACC1_ENST00000332878.4_Silent_p.I734I NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 734 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 CAGCTTCTTGGATGAGACGTG 0.438000 4 43 0 0 0.009096 0 0 SGCE 8910 broad.mit.edu 37 7 94230004 94230004 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:94230004G>A ENST00000415788.2 - 8 1186 c.1099C>T c.(1099-1101)Ctt>Ttt p.L367F SGCE_ENST00000437425.2_Missense_Mutation_p.L290F|SGCE_ENST00000428696.2_Missense_Mutation_p.L331F|SGCE_ENST00000265735.7_Missense_Mutation_p.L331F|SGCE_ENST00000445866.2_Missense_Mutation_p.L331F|SGCE_ENST00000447873.1_Missense_Mutation_p.L331F O43556 SGCE_HUMAN sarcoglycan, epsilon 331 cell-matrix adhesion|muscle organ development cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma calcium ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 14 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) ATTAGAAAAAGGACCAGTGCC 0.418000 10 34 0 0 0.001855 0 0 PCLO 27445 broad.mit.edu 37 7 82764839 82764839 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:82764839G>A ENST00000423517.2 - 3 2364 c.2027C>T c.(2026-2028)tCc>tTc p.S676F PCLO_ENST00000333891.8_Missense_Mutation_p.S676F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 622 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGGCTGTGGGGATGATTTGCT 0.522000 18 48 0 0 0.007413 0 0 C8B 732 broad.mit.edu 37 1 57415272 57415272 + Nonsense_Mutation SNP G G A rs140813121 by1000genomes TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:57415272G>A ENST00000543257.1 - 7 1230 c.664C>T c.(664-666)Cga>Tga p.R222* C8B_ENST00000535057.1_Nonsense_Mutation_p.R212*|C8B_ENST00000371237.4_Nonsense_Mutation_p.R274* NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 274 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 TGTTTGCCTCGATCACTTTGA 0.363000 6 35 0 0 0.001168 0 0 NFRKB 4798 broad.mit.edu 37 11 129748408 129748408 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:129748408G>A ENST00000446488.3 - 13 1518 c.1415C>T c.(1414-1416)gCt>gTt p.A472V NFRKB_ENST00000524794.1_Missense_Mutation_p.A497V|NFRKB_ENST00000524746.1_Missense_Mutation_p.A472V|NFRKB_ENST00000304521.5_Missense_Mutation_p.A472V NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 472 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GAAGAGGGCAGCTAATTCCTT 0.383000 33 153 0 0 0.009718 0 0 LBX1 10660 broad.mit.edu 37 10 102987042 102987042 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:102987042G>A ENST00000370193.2 - 2 1809 c.831C>T c.(829-831)atC>atT p.I277I NM_006562.4 NP_006553.2 P52954 LBX1_HUMAN ladybird homeobox 1 277 Asp/Glu-rich (highly acidic). muscle organ development sequence-specific DNA binding large_intestine(2)|lung(4)|ovary(1) 7 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) CGTCCACGTCGATCTCTTCGT 0.726000 44 143 0 0 0.014410 0 0 ASPM 259266 broad.mit.edu 37 1 197060024 197060024 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:197060024G>A ENST00000367409.4 - 23 9848 c.9592C>T c.(9592-9594)Cgt>Tgt p.R3198C ASPM_ENST00000367408.1_Missense_Mutation_p.R863C|ASPM_ENST00000294732.7_Missense_Mutation_p.R1613C NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 3198 IQ 38. 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 TGCTTTTTACGGAGGAGAAAA 0.358000 12 60 0 0 0.002450 0 0 IGDCC4 57722 broad.mit.edu 37 15 65676746 65676746 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:65676746C>T ENST00000352385.2 - 20 3563 c.3354G>A c.(3352-3354)agG>agA p.R1118R IGDCC4_ENST00000558048.1_5'UTR NM_020962.1 NP_066013.1 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 4 1118 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 GTGACTTCTTCCTCCCATTGC 0.512000 24 133 0 0 0.003330 0 0 KLC2 64837 broad.mit.edu 37 11 66030323 66030323 + Missense_Mutation SNP G G A rs140572929 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:66030323G>A ENST00000394065.2 + 3 1169 c.151G>A c.(151-153)Ggg>Agg p.G51R KLC2_ENST00000316924.5_Missense_Mutation_p.G190R|KLC2_ENST00000394067.2_Missense_Mutation_p.G190R|KLC2_ENST00000417856.1_Missense_Mutation_p.G190R|KLC2_ENST00000421552.1_Missense_Mutation_p.G113R|KLC2_ENST00000394066.2_Missense_Mutation_p.G113R|KLC2_ENST00000394078.1_Missense_Mutation_p.G190R Q9H0B6 KLC2_HUMAN kinesin light chain 2 190 blood coagulation cytosol|kinesin complex|microtubule microtubule motor activity|protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 TGGTCAGCATGGGGGCTACGA 0.637000 15 97 0 0 0.004990 0 0 FCRL4 83417 broad.mit.edu 37 1 157557143 157557143 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:157557143C>T ENST00000271532.1 - 5 905 c.770G>A c.(769-771)gGa>gAa p.G257E FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 257 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) CCAATAGGATCCTGAGTTTTC 0.537000 73 291 0 0 0.014410 0 0 EGFLAM 133584 broad.mit.edu 37 5 38418357 38418357 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:38418357G>A ENST00000322350.5 + 12 2030 c.1684_splice c.e12+1 p.G562_splice EGFLAM_ENST00000354891.3_Splice_Site_p.G562_splice|EGFLAM_ENST00000336740.6_Splice_Site_p.G328_splice|EGFLAM_ENST00000397202.2_Intron NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 562 Laminin G-like 1. 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) GGCTGATGTGGGTAAGTGGCT 0.567000 6 28 0 0 0.001168 0 0 FLG2 388698 broad.mit.edu 37 1 152329028 152329028 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:152329028C>T ENST00000388718.5 - 3 1306 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 412 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) TTGGAAAATTCATTTGAACTA 0.428000 22 100 0 0 0.003330 0 0 ZC3H12D 340152 broad.mit.edu 37 6 149777843 149777843 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:149777843G>A ENST00000389942.5 - 4 886 c.639C>T c.(637-639)ttC>ttT p.F213F ZC3H12D_ENST00000416573.2_Silent_p.F213F|ZC3H12D_ENST00000409806.3_Silent_p.F213F|ZC3H12D_ENST00000542614.1_Silent_p.F213F A2A288 ZC12D_HUMAN zinc finger CCCH-type containing 12D 213 cytoplasm|nucleus endonuclease activity|nucleic acid binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1) 6 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921) TCTGCTCGATGAACCACTTCC 0.657000 18 73 0 0 0.008871 0 0 UCP3 7352 broad.mit.edu 37 11 73717239 73717239 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:73717239C>T ENST00000314032.4 - 3 864 c.312G>A c.(310-312)caG>caA p.Q104Q UCP3_ENST00000348534.4_Silent_p.Q104Q|UCP3_ENST00000426995.2_Silent_p.Q104Q NM_003356.3 NP_003347.1 P55916 UCP3_HUMAN uncoupling protein 3 (mitochondrial, proton carrier) 104 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) GGGTGTACACCTGCTTGACGG 0.612000 13 58 0 0 0.003163 0 0 DDRGK1 65992 broad.mit.edu 37 20 3171860 3171860 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:3171860G>A ENST00000354488.3 - 8 811 c.754C>T c.(754-756)Ctg>Ttg p.L252L DDRGK1_ENST00000496781.1_5'UTR NM_023935.1 NP_076424.1 Q96HY6 DDRGK_HUMAN DDRGK domain containing 1 252 PCI. endoplasmic reticulum protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1) 7 TCAGCCAGCAGGTCCTGGATG 0.527000 14 60 0 0 0.004990 0 0 GP2 2813 broad.mit.edu 37 16 20335417 20335417 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:20335417C>T ENST00000302555.5 - 3 405 c.256G>A c.(256-258)Gat>Aat p.D86N GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.D86N P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 86 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 ATGTTTTTATCGCACCCCTGG 0.562000 16 63 0 0 0.007413 0 0 GABRB3 2562 broad.mit.edu 37 15 26793211 26793211 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:26793211C>T ENST00000541819.2 - 10 1421 c.1319G>A c.(1318-1320)gGc>gAc p.G440D GABRB3_ENST00000545868.1_Missense_Mutation_p.G299D|GABRB3_ENST00000400188.3_Missense_Mutation_p.G313D|GABRB3_ENST00000299267.4_Missense_Mutation_p.G384D|GABRB3_ENST00000311550.5_Missense_Mutation_p.G384D P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 384 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATCGCCAATGCCGCCTGAGAC 0.473000 17 90 0 0 0.007413 0 0 SP140 11262 broad.mit.edu 37 2 231155266 231155266 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:231155266G>A ENST00000392045.3 + 19 1926 c.1812G>A c.(1810-1812)aaG>aaA p.K604K SP140_ENST00000417495.3_Silent_p.K490K|SP140_ENST00000350136.5_Silent_p.K473K|SP140_ENST00000420434.3_Silent_p.K577K|SP140_ENST00000486687.2_Silent_p.K528K|SP140_ENST00000343805.6_Silent_p.K544K NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 604 SAND. defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TACATAAGAAGAAATTGCAGC 0.398000 8 44 0 0 0.004482 0 0 CCT8L2 150160 broad.mit.edu 37 22 17073418 17073418 + Missense_Mutation SNP G G A rs148171132 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:17073418G>A ENST00000359963.3 - 1 282 c.23C>T c.(22-24)gCc>gTc p.A8V NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 8 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CAGCTCCAGGGCTGAAGGGAC 0.642000 9 48 0 0 0.006214 0 0 RNF19A 25897 broad.mit.edu 37 8 101276405 101276405 + Missense_Mutation SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:101276405A>G ENST00000519449.1 - 8 1641 c.1325T>C c.(1324-1326)aTg>aCg p.M442T RNF19A_ENST00000341084.2_Missense_Mutation_p.M442T|RNF19A_ENST00000523255.1_Intron NM_015435.3 NP_056250.3 Q9NV58 RN19A_HUMAN ring finger protein 19A, RBR E3 ubiquitin protein ligase 442 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) ATAAGCTAACATAATAGGAAC 0.358000 4 21 0 0 0.000602 0 0 ZDHHC19 131540 broad.mit.edu 37 3 195937578 195937578 + Nonsense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:195937578C>T ENST00000296326.3 - 2 256 c.177G>A c.(175-177)tgG>tgA p.W59* ZDHHC19_ENST00000488508.1_5'UTR NM_001039617.1 NP_001034706.1 Q8WVZ1 ZDH19_HUMAN zinc finger, DHHC-type containing 19 59 integral to membrane acyltransferase activity|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3) 14 all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0022) CAGGAAAGGCCCACTCCCCGT 0.577000 5 34 0 0 0.000602 0 0 ITGA7 3679 broad.mit.edu 37 12 56094742 56094742 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:56094742G>A ENST00000257880.7 - 4 830 c.611C>T c.(610-612)gCc>gTc p.A204V ITGA7_ENST00000394229.2_Missense_Mutation_p.A204V|ITGA7_ENST00000452168.2_Missense_Mutation_p.A107V|ITGA7_ENST00000257879.6_Missense_Mutation_p.A204V|ITGA7_ENST00000347027.6_Missense_Mutation_p.A204V|ITGA7_ENST00000394230.2_Missense_Mutation_p.A204V|ITGA7_ENST00000553804.1_Missense_Mutation_p.A204V|ITGA7_ENST00000555728.1_Missense_Mutation_p.A204V Q13683 ITA7_HUMAN integrin, alpha 7 204 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 AGGGGAGAAGGCGGCAGCTGT 0.582000 9 37 0 0 0.004482 0 0 OR6C75 390323 broad.mit.edu 37 12 55759353 55759353 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:55759353C>T ENST00000343399.3 + 1 459 c.459C>T c.(457-459)atC>atT p.I153I NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I153I(1) endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 GGTTTCTGATCATCTTTCCAC 0.453000 8 42 0 0 0.003080 0 0 LARP1B 55132 broad.mit.edu 37 4 129035873 129035873 + Silent SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:129035873T>C ENST00000326639.6 + 10 1348 c.1137T>C c.(1135-1137)caT>caC p.H379H LARP1B_ENST00000441387.1_Silent_p.H379H|LARP1B_ENST00000264584.5_Silent_p.H332H|LARP1B_ENST00000427266.1_Silent_p.H379H|LARP1B_ENST00000512292.1_Silent_p.H379H|LARP1B_ENST00000354456.3_5'UTR NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 379 RNA binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 AAAAAAGACATCAGCCAGCCC 0.413000 7 47 0 0 0.001984 0 0 CDHR3 222256 broad.mit.edu 37 7 105615411 105615411 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:105615411C>T ENST00000542731.1 + 2 276 c.168C>T c.(166-168)atC>atT p.I56I CDHR3_ENST00000478080.1_Intron|CDHR3_ENST00000343407.5_5'UTR|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000541203.1_Silent_p.I56I|CDHR3_ENST00000317716.9_Silent_p.I56I Q6ZTQ4 CDHR3_HUMAN cadherin-related family member 3 56 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1) 23 CACCTGTGATCCCAGGATTTC 0.458000 53 131 0 0 0.014410 0 0 FAM83G 644815 broad.mit.edu 37 17 18882883 18882883 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:18882883C>T ENST00000388995.6 - 4 1017 c.794G>A c.(793-795)cGg>cAg p.R265Q SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R265Q|FAM83G_ENST00000585154.2_Missense_Mutation_p.R265Q|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 265 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 GCACACAGCCCGGTCTCCATC 0.582000 10 43 0 0 0.008291 0 0 FBXL17 64839 broad.mit.edu 37 5 107216831 107216831 + Silent SNP G G A rs143348449 byFrequency TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:107216831G>A ENST00000542267.1 - 8 2278 c.1872C>T c.(1870-1872)gtC>gtT p.V624V FBXL17_ENST00000496714.1_Silent_p.V226V|FBXL17_ENST00000359660.5_Silent_p.V226V NM_001163315.2 NP_001156787.2 Q9UF56 FXL17_HUMAN F-box and leucine-rich repeat protein 17 624 endometrium(1)|large_intestine(4)|lung(1) 6 all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10) TACACCATCCGACATCCACAG 0.468000 15 86 0 0 0.003163 0 0 ZNF282 8427 broad.mit.edu 37 7 148892733 148892733 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:148892733C>T ENST00000262085.3 + 1 157 c.52C>T c.(52-54)Ctg>Ttg p.L18L ZNF282_ENST00000479907.1_Silent_p.L18L NM_003575.2 NP_003566.1 Q9UDV7 ZN282_HUMAN zinc finger protein 282 18 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 17 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00171) Lung(243;0.145) CATCCAGGGCCTGGGGCTGGA 0.687000 7 27 0 0 0.003080 0 0 ANKS1A 23294 broad.mit.edu 37 6 34949592 34949592 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:34949592C>T ENST00000360359.3 + 4 699 c.561C>T c.(559-561)gaC>gaT p.D187D ANKS1A_ENST00000535627.1_Silent_p.D187D NM_015245.2 NP_056060.2 Q92625 ANS1A_HUMAN ankyrin repeat and sterile alpha motif domain containing 1A 187 cytoplasm protein binding cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 CCCCTTTGGACCTGGCAGCAC 0.557000 17 97 0 0 0.008871 0 0 MCM10 55388 broad.mit.edu 37 10 13234455 13234455 + Silent SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:13234455T>C ENST00000378694.1 + 12 1707 c.1632T>C c.(1630-1632)atT>atC p.I544I MCM10_ENST00000484800.2_Silent_p.I545I|MCM10_ENST00000378714.3_Silent_p.I544I Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 545 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 TTTCAGGGATTATGGGGAGCC 0.557000 18 62 0 0 0.012319 0 0 LAMA3 3909 broad.mit.edu 37 18 21487612 21487612 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:21487612C>T ENST00000313654.9 + 53 7058 c.6817C>T c.(6817-6819)Ctt>Ttt p.L2273F LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.L608F|LAMA3_ENST00000399516.3_Missense_Mutation_p.L2217F|LAMA3_ENST00000269217.6_Missense_Mutation_p.L664F NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2273 Domain II and I. 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) CCGAGATGGTCTTCATGGGAT 0.428000 20 102 0 0 0.008871 0 0 BCAR3 8412 broad.mit.edu 37 1 94048307 94048307 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:94048307G>A ENST00000370244.1 - 9 1525 c.1237C>T c.(1237-1239)Ctc>Ttc p.L413F BCAR3_ENST00000370247.3_Missense_Mutation_p.L322F|BCAR3_ENST00000539242.1_Missense_Mutation_p.L89F|BCAR3_ENST00000370243.1_Missense_Mutation_p.L413F|BCAR3_ENST00000260502.6_Missense_Mutation_p.L413F|BCAR3_ENST00000466632.1_5'UTR NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 413 response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) GGAACCTTGAGGAACGGCACC 0.627000 12 61 0 0 0.002450 0 0 HCLS1 3059 broad.mit.edu 37 3 121350951 121350951 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:121350951C>T ENST00000314583.3 - 13 1412 c.1321G>A c.(1321-1323)Gga>Aga p.G441R HCLS1_ENST00000428394.2_Missense_Mutation_p.G404R|HCLS1_ENST00000473883.1_5'UTR NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 441 SH3. erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) AACCTACCTCCTTGGTAATCA 0.537000 18 131 0 0 0.006122 0 0 BTNL3 10917 broad.mit.edu 37 5 180424345 180424345 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:180424345C>T ENST00000342868.6 + 3 714 c.530C>T c.(529-531)tCa>tTa p.S177L NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 177 Ig-like V-type. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) GATTTGTCTTCAGACTCCAGA 0.502000 8 28 0 0 0.003080 0 0 SYNE1 23345 broad.mit.edu 37 6 152826376 152826376 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:152826376G>A ENST00000367255.5 - 9 1339 c.738C>T c.(736-738)gcC>gcT p.A246A SYNE1_ENST00000423061.1_Silent_p.A253A|SYNE1_ENST00000367248.3_Silent_p.A253A|SYNE1_ENST00000367253.4_Silent_p.A246A|SYNE1_ENST00000413186.2_Silent_p.A246A|SYNE1_ENST00000265368.4_Silent_p.A246A|SYNE1_ENST00000466159.2_Silent_p.A246A|SYNE1_ENST00000341594.5_Silent_p.A246A|SYNE1_ENST00000448038.1_Silent_p.A253A NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 246 Actin-binding.|CH 2. 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) GTTCTGTTTCGGCGATAGTGA 0.428000 HNSCC(10;0.0054) 8 80 0 0 0.006214 0 0 ANK1 286 broad.mit.edu 37 8 41571742 41571742 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:41571742G>A ENST00000396942.1 - 16 1815 c.1732C>T c.(1732-1734)Cat>Tat p.H578Y ANK1_ENST00000379758.2_Missense_Mutation_p.H578Y|ANK1_ENST00000289734.7_Missense_Mutation_p.H578Y|ANK1_ENST00000396945.1_Missense_Mutation_p.H578Y|ANK1_ENST00000352337.4_Missense_Mutation_p.H578Y|ANK1_ENST00000265709.8_Missense_Mutation_p.H611Y|ANK1_ENST00000347528.4_Missense_Mutation_p.H578Y P16157 ANK1_HUMAN ankyrin 1, erythrocytic 578 89 kDa domain. 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) TTGTTGTGATGGACGGCCACG 0.657000 8 39 0 0 0.006214 0 0 TENM3 55714 broad.mit.edu 37 4 183675559 183675559 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:183675559G>A ENST00000511685.1 + 22 4162 c.4039G>A c.(4039-4041)Gac>Aac p.D1347N TENM3_ENST00000406950.2_Missense_Mutation_p.D1347N|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 ATGGCCCACTGACCTAGCCAT 0.398000 6 14 0 0 0.001168 0 0 CHST10 9486 broad.mit.edu 37 2 101014497 101014497 + Silent SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:101014497G>T ENST00000264249.3 - 5 685 c.300C>A c.(298-300)ctC>ctA p.L100L CHST10_ENST00000542617.1_Silent_p.L148L|CHST10_ENST00000409701.1_Silent_p.L100L NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 100 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 GAGTGTGCGAGAGATTCTTCA 0.527000 20 102 9.95505e-16 1.04272e-15 0.014323 1 0 MROH9 80133 broad.mit.edu 37 1 170914708 170914708 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:170914708G>A ENST00000367759.4 + 2 165 c.11G>A c.(10-12)aGg>aAg p.R4K MROH9_ENST00000367758.3_Missense_Mutation_p.R4K NM_001163629.1 NP_001157101.1 maestro heat-like repeat family member 9 ATGTTGACAAGGAATCCAAAA 0.358000 4 20 0 0 0.000602 0 0 SPDYC 387778 broad.mit.edu 37 11 64940289 64940289 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:64940289C>T ENST00000377185.2 + 6 733 c.651C>T c.(649-651)tcC>tcT p.S217S NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 217 cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 CCCACTGTTCCCCCTGTGGTT 0.647000 16 44 0 0 0.003163 0 0 APC 324 broad.mit.edu 37 5 112177788 112177788 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:112177788G>A ENST00000457016.1 + 16 6877 c.6497G>A c.(6496-6498)cGa>cAa p.R2166Q APC_ENST00000508376.2_Missense_Mutation_p.R2166Q|APC_ENST00000257430.4_Missense_Mutation_p.R2166Q|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 2166 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AAAGGCCCACGAATTCTAAAA 0.348000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 10 44 0 0 0.008291 0 0 ZMYND19 116225 broad.mit.edu 37 9 140481550 140481550 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:140481550G>A ENST00000298585.2 - 4 454 c.228C>T c.(226-228)caC>caT p.H76H ZMYND19_ENST00000471957.1_5'UTR NM_138462.2 NP_612471.1 Q96E35 ZMY19_HUMAN zinc finger, MYND-type containing 19 76 Golgi apparatus|plasma membrane zinc ion binding endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CGCCCCCCCGGTGCCGCTCCC 0.632000 23 93 0 0 0.004656 0 0 NPTXR 23467 broad.mit.edu 37 22 39219206 39219206 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:39219206G>A ENST00000333039.2 - 4 1283 c.1160C>T c.(1159-1161)aCc>aTc p.T387I NM_014293.3 NP_055108.2 O95502 NPTXR_HUMAN neuronal pentraxin receptor 387 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) ATCCCTTGTGGTCCAGGCGAT 0.647000 10 47 0 0 0.010729 0 0 GRB14 2888 broad.mit.edu 37 2 165476271 165476271 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:165476271C>T ENST00000263915.3 - 2 788 c.250G>A c.(250-252)Gag>Aag p.E84K NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 84 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 CAGCATAGCTCAGGAAAAGGG 0.338000 15 56 0 0 0.004007 0 0 NONO 4841 broad.mit.edu 37 X 70511790 70511790 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:70511790C>T ENST00000535149.1 + 2 692 c.49C>T c.(49-51)Cat>Tat p.H17Y NONO_ENST00000276079.8_Missense_Mutation_p.H106Y|NONO_ENST00000373841.1_Missense_Mutation_p.H106Y|NONO_ENST00000373856.3_Missense_Mutation_p.H106Y NM_001145410.1 NP_001138882.1 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 106 DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) AGTCTTCATTCATAAGGATAA 0.438000 T TFE3 papillary renal cancer 19 27 0 0 0.002780 0 0 OR52B4 143496 broad.mit.edu 37 11 4388791 4388791 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:4388791G>A ENST00000408920.2 - 1 825 c.735C>T c.(733-735)tcC>tcT p.S245S NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCAGACATGGGAGCCAAATG 0.453000 15 63 0 0 0.003163 0 0 CXCR5 643 broad.mit.edu 37 11 118764404 118764404 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:118764404G>A ENST00000292174.4 + 2 327 c.151G>A c.(151-153)Gcc>Acc p.A51T NM_001716.4|NM_032966.2 NP_001707.1|NP_116743.1 P32302 CXCR5_HUMAN chemokine (C-X-C motif) receptor 5 51 B cell activation|cellular component movement integral to plasma membrane C-X-C chemokine receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) CTCCTTCAAGGCCGTGTTCGT 0.607000 20 121 0 0 0.010504 0 0 F5 2153 broad.mit.edu 37 1 169509710 169509710 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:169509710C>T ENST00000367796.3 - 13 4834 c.4633G>A c.(4633-4635)Gaa>Aaa p.E1545K F5_ENST00000367797.3_Missense_Mutation_p.E1540K P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1540 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) TAATCAATTTCAGCATAGTCA 0.428000 9 32 0 0 0.004482 0 0 MYH11 4629 broad.mit.edu 37 16 15841531 15841531 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:15841531G>A ENST00000338282.6 - 19 2413 c.2307C>T c.(2305-2307)ttC>ttT p.F769F MYH11_ENST00000396324.3_Silent_p.F776F|MYH11_ENST00000300036.5_Silent_p.F769F|MYH11_ENST00000576790.1_Silent_p.F769F|MYH11_ENST00000452625.2_Silent_p.F776F NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 769 Actin-binding (By similarity).|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 CAGTTCGGAAGAAGATTTTGC 0.522000 T CBFB AML 8 52 0 0 0.003080 0 0 TCEA3 6920 broad.mit.edu 37 1 23743824 23743824 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:23743824C>T ENST00000450454.2 - 4 404 c.298G>A c.(298-300)Gaa>Aaa p.E100K TCEA3_ENST00000461794.1_Missense_Mutation_p.E63K|TCEA3_ENST00000374601.3_Missense_Mutation_p.E100K NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A (SII), 3 100 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent nucleus DNA binding|translation elongation factor activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198) AGccctttttccttcttcttt 0.473000 15 68 0 0 0.004990 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38196056 38196056 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:38196056G>A ENST00000317025.8 - 3 1262 c.745C>T c.(745-747)Cca>Tca p.P249S WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P249S|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P249S|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P249S NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 249 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CAACTTACTGGGGCTTCCTCT 0.383000 T NUP98 AML 16 68 0 0 0.004990 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997332 146997332 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:146997332G>A ENST00000361727.3 + 9 1964 c.1448G>A c.(1447-1449)cGa>cAa p.R483Q NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 483 Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCAGCAGTTCGAACTAATAGT 0.423000 HNSCC(39;0.1) 18 70 0 0 0.004990 0 0 ADAD1 132612 broad.mit.edu 37 4 123317448 123317448 + Nonsense_Mutation SNP A A T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:123317448A>T ENST00000296513.2 + 7 825 c.640A>T c.(640-642)Aaa>Taa p.K214* ADAD1_ENST00000388724.2_Nonsense_Mutation_p.K214*|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Nonsense_Mutation_p.K196* NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 214 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 ACAGATCGTTAAAGAAAGATT 0.308000 7 23 0 0 0.003080 0 0 CSMD1 64478 broad.mit.edu 37 8 3263621 3263621 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:3263621C>T ENST00000520002.1 - 16 2752 c.2197G>A c.(2197-2199)Gga>Aga p.G733R CSMD1_ENST00000602723.1_Missense_Mutation_p.G733R|CSMD1_ENST00000400186.3_Missense_Mutation_p.G733R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G733R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G732R|CSMD1_ENST00000539096.1_Missense_Mutation_p.G732R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G732R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 733 Sushi 4. 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) GACTCGGATCCCTGGGTCTTG 0.562000 7 40 0 0 0.001984 0 0 BOD1L1 259282 broad.mit.edu 37 4 13604424 13604424 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:13604424G>A ENST00000040738.5 - 10 4235 c.4100C>T c.(4099-4101)cCa>cTa p.P1367L NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1367 DNA binding GTGAGCTTCTGGAATGTGTCT 0.413000 19 82 0 0 0.008871 0 0 PDZD2 23037 broad.mit.edu 37 5 32074338 32074338 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:32074338G>A ENST00000438447.1 + 18 3514 c.3126G>A c.(3124-3126)gaG>gaA p.E1042E PDZD2_ENST00000282493.3_Silent_p.E1042E O15018 PDZD2_HUMAN PDZ domain containing 2 1042 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 TGGACTTAGAGGAGAGTATCC 0.592000 26 83 0 0 0.003954 0 0 MAPK8 5599 broad.mit.edu 37 10 49618124 49618124 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:49618124G>A ENST00000374189.1 + 5 544 c.363G>A c.(361-363)atG>atA p.M121I MAPK8_ENST00000360332.3_Missense_Mutation_p.M121I|MAPK8_ENST00000395611.3_Missense_Mutation_p.M121I|MAPK8_ENST00000374182.3_Missense_Mutation_p.M121I|MAPK8_ENST00000374174.1_Missense_Mutation_p.M121I P45983 MK08_HUMAN mitogen-activated protein kinase 8 121 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) TGATTCAGATGGAGCTAGATC 0.398000 20 79 0 0 0.010504 0 0 PCNXL2 80003 broad.mit.edu 37 1 233190095 233190095 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:233190095C>T ENST00000258229.8 - 25 4504 c.4270G>A c.(4270-4272)Gat>Aat p.D1424N PCNXL2_ENST00000344698.2_Missense_Mutation_p.D76N NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1424 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) TTGAGGTCATCTGAAGCCAAA 0.453000 4 28 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9085376 9085376 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9085376G>A ENST00000397910.4 - 1 6642 c.6439C>T c.(6439-6441)Cca>Tca p.P2147S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2147 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 ATGGCCATTGGAAGAGGGACT 0.493000 17 56 0 0 0.006122 0 0 USP33 23032 broad.mit.edu 37 1 78180395 78180395 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:78180395G>A ENST00000370793.1 - 20 2558 c.2212C>T c.(2212-2214)Ctt>Ttt p.L738F USP33_ENST00000370792.3_Missense_Mutation_p.L730F|USP33_ENST00000357428.1_Missense_Mutation_p.L738F|USP33_ENST00000370794.3_Missense_Mutation_p.L707F NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 738 DUSP 1. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 TAAAACTGAAGGAGGCTTGGT 0.353000 18 50 0 0 0.006122 0 0 LILRA1 11024 broad.mit.edu 37 19 55106623 55106623 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:55106623G>A ENST00000453777.1 + 5 587 c.417G>A c.(415-417)ggG>ggA p.G139G LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Silent_p.G139G|LILRB1_ENST00000448689.1_Intron NM_001278318.1 NP_001265247.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 139 Ig-like C2-type 2. 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) CCTCAGGAGGGAACGTGACCC 0.542000 22 106 0 0 0.012319 0 0 SLC26A6 65010 broad.mit.edu 37 3 48664104 48664104 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:48664104G>A ENST00000358747.6 - 18 2275 c.2025C>T c.(2023-2025)ttC>ttT p.F675F SLC26A6_ENST00000455886.2_Silent_p.F660F|SLC26A6_ENST00000420764.2_Silent_p.F695F|SLC26A6_ENST00000337000.8_Silent_p.F588F|SLC26A6_ENST00000383733.3_Silent_p.F677F|SLC26A6_ENST00000395550.2_Silent_p.F696F NM_001040454.1 NP_001035544.1 solute carrier family 26 (anion exchanger), member 6 SLC26A6/PRKAR2A(2) NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609) CAATCTCCCGGAAGTCATGGA 0.597000 34 147 0 0 0.006230 0 0 CSMD2 114784 broad.mit.edu 37 1 34080129 34080129 + Nonsense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:34080129C>T ENST00000373381.4 - 40 6284 c.6108G>A c.(6106-6108)tgG>tgA p.W2036* CSMD2_ENST00000373380.1_Nonsense_Mutation_p.W909*|CSMD2_ENST00000373388.2_Nonsense_Mutation_p.W135*|CSMD2_ENST00000373377.1_Nonsense_Mutation_p.W135* NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1996 CUB 12. 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) GTGCTATTTTCCAGGAGCAGT 0.567000 5 34 0 0 0.000602 0 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338222 13338222 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:13338222C>T ENST00000602906.1 + 0 240 kidney(3)|lung(1) 4 AGGAGATTTTCCTTTGGGAGT 0.433000 7 32 0 0 0.003080 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72657494 72657494 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:72657494C>T ENST00000425256.1 - 0 2417 NR_002164.1 ttctggtattcccaccttgtc 0.507000 66 148 0 0 0.014410 0 0 ADCK4 79934 broad.mit.edu 37 19 41211268 41211268 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:41211268C>T ENST00000324464.3 - 6 753 c.452G>A c.(451-453)gGg>gAg p.G151E ADCK4_ENST00000243583.6_Intron|ADCK4_ENST00000450541.1_Intron NM_024876.3 NP_079152.3 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 151 integral to membrane protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1) 17 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) GAGGGCGGCCCCTCGAACTGT 0.612000 11 49 0 0 0.008291 0 0 PTPN3 5774 broad.mit.edu 37 9 112144596 112144596 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:112144596G>A ENST00000412145.1 - 19 4674 c.2121C>T c.(2119-2121)gtC>gtT p.V707V PTPN3_ENST00000374541.2_Silent_p.V838V|PTPN3_ENST00000394827.3_Silent_p.V306V|PTPN3_ENST00000262539.3_Silent_p.V684V|PTPN3_ENST00000446349.1_Silent_p.V662V NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 838 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AGTGAACTAGGACGGGCTCGC 0.547000 5 17 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9046738 9046738 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9046738C>T ENST00000397910.4 - 5 35096 c.34893G>A c.(34891-34893)gtG>gtA p.V11631V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11633 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.V11631V(1)|p.V7264V(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 CCTGTGAGGTCACTACCCCTG 0.527000 11 75 0 0 0.008291 0 0 FSHR 2492 broad.mit.edu 37 2 49217768 49217768 + Missense_Mutation SNP G G A rs121909665 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:49217768G>A ENST00000406846.2 - 5 502 c.383C>T c.(382-384)tCc>tTc p.S128F FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000304421.4_Missense_Mutation_p.S128F|FSHR_ENST00000346173.3_Missense_Mutation_p.S128F|FSHR_ENST00000541117.1_5'UTR NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 128 S -> Y (in OHSS; displays increase in affinity and sensitivity toward hCG and does not show any constitutive activity nor promiscuous activation by TSH). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) ACCTGTGTTGGATATTAACCT 0.333000 Gonadal Dysgenesis, 46 XX 9 49 0 0 0.010729 0 0 C2orf16 84226 broad.mit.edu 37 2 27801985 27801985 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:27801985G>A ENST00000408964.2 + 1 2597 c.2546G>A c.(2545-2547)cGa>cAa p.R849Q NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 849 p.R849Q(2) breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TGGAGATCACGATCTAGGACA 0.478000 11 50 0 0 0.008291 0 0 CSMD2 114784 broad.mit.edu 37 1 33990616 33990616 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:33990616G>A ENST00000373381.4 - 66 10438 c.10262C>T c.(10261-10263)tCc>tTc p.S3421F NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3277 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) TTTCCACAGGGAATTCTTGGC 0.502000 32 137 0 0 0.005524 0 0 VAMP4 8674 broad.mit.edu 37 1 171679897 171679897 + Silent SNP T T G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:171679897T>G ENST00000236192.7 - 5 608 c.222A>C c.(220-222)gtA>gtC p.V74V VAMP4_ENST00000415773.1_Silent_p.V73V|VAMP4_ENST00000367740.2_Silent_p.V73V|VAMP4_ENST00000482519.1_Intron NM_001185127.1|NM_003762.4 NP_001172056.1|NP_003753.2 O75379 VAMP4_HUMAN vesicle-associated membrane protein 4 74 v-SNARE coiled-coil homology. vesicle-mediated transport endosome|Golgi membrane|integral to membrane|lysosome large_intestine(4) 4 all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTCTCTCAATTACCTTTGTAA 0.318000 11 85 0 0 0.008291 0 0 SMTNL2 342527 broad.mit.edu 37 17 4498512 4498512 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:4498512G>A ENST00000389313.4 + 5 946 c.879G>A c.(877-879)caG>caA p.Q293Q SMTNL2_ENST00000338859.4_Silent_p.Q149Q NM_001114974.1 NP_001108446.1 Q2TAL5 SMTL2_HUMAN smoothelin-like 2 293 breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1) 13 READ - Rectum adenocarcinoma(115;0.0325) TCCATCGGCAGGGGGAGCGTC 0.667000 21 39 0 0 0.003330 0 0 PHF3 23469 broad.mit.edu 37 6 64394342 64394342 + Missense_Mutation SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:64394342G>T ENST00000262043.3 + 4 1059 c.719G>T c.(718-720)tGt>tTt p.C240F PHF3_ENST00000393387.1_Missense_Mutation_p.C240F|PHF3_ENST00000509330.1_Missense_Mutation_p.C240F Q92576 PHF3_HUMAN PHD finger protein 3 240 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding p.C240Y(1) breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAGCATAAGTGTAATAATCCG 0.348000 18 85 2.35188e-11 2.45373e-11 0.006122 1 0 ASTN2 23245 broad.mit.edu 37 9 119770528 119770528 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:119770528G>A ENST00000313400.4 - 7 1534 c.1434C>T c.(1432-1434)ttC>ttT p.F478F ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Silent_p.F478F|ASTN2_ENST00000361209.2_Silent_p.F427F O75129 ASTN2_HUMAN astrotactin 2 478 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 CACTCACCACGAAGCTGCTTC 0.502000 8 47 0 0 0.006214 0 0 TYW1 55253 broad.mit.edu 37 7 66489949 66489949 + Silent SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:66489949A>G ENST00000359626.5 + 7 1088 c.924A>G c.(922-924)ctA>ctG p.L308L NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 308 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) ATCAGAGCCTAAATTCCATTG 0.428000 20 77 0 0 0.014323 0 0 ABCC9 10060 broad.mit.edu 37 12 21968825 21968825 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:21968825G>A ENST00000261200.4 - 32 3894 c.3895C>T c.(3895-3897)Cct>Tct p.P1299S ABCC9_ENST00000345162.2_Missense_Mutation_p.P1263S|ABCC9_ENST00000261201.4_Missense_Mutation_p.P1299S NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 1299 defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACTTGAGAAGGATCTGGAGGA 0.353000 11 34 0 0 0.013537 0 0 THSD7B 80731 broad.mit.edu 37 2 138373870 138373870 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:138373870C>T ENST00000409968.1 + 18 3727 c.3549C>T c.(3547-3549)ttC>ttT p.F1183F THSD7B_ENST00000272643.3_Silent_p.F1186F|THSD7B_ENST00000413152.2_Silent_p.F1155F|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GCTTCCAGTTCCAGTACAATC 0.433000 22 121 0 0 0.002780 0 0 CTCFL 140690 broad.mit.edu 37 20 56098238 56098238 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:56098238C>T ENST00000426658.2 - 2 1301 c.640G>A c.(640-642)Gaa>Aaa p.E214K CTCFL_ENST00000422869.2_Missense_Mutation_p.E214K|CTCFL_ENST00000371196.2_Missense_Mutation_p.E214K|CTCFL_ENST00000422109.2_Missense_Mutation_p.E214K|CTCFL_ENST00000433949.2_Missense_Mutation_p.E214K|CTCFL_ENST00000243914.3_Missense_Mutation_p.E214K|CTCFL_ENST00000539382.1_Missense_Mutation_p.E9K|CTCFL_ENST00000423479.2_Missense_Mutation_p.E214K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000429804.2_Missense_Mutation_p.E214K|CTCFL_ENST00000432255.2_Missense_Mutation_p.E214K Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 214 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) AGAACAATTTCGTCACTTCTT 0.403000 22 111 0 0 0.014323 0 0 ZNF761 388561 broad.mit.edu 37 19 53959500 53959500 + RNA SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:53959500G>A ENST00000454407.1 + 0 2192 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.C526F(1) endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) CCTTACAAATGTGAAGATAGT 0.388000 16 36 0 0 0.003163 0 0 MCM8 84515 broad.mit.edu 37 20 5963670 5963670 + Missense_Mutation SNP T T G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:5963670T>G ENST00000378896.3 + 14 1969 c.1592T>G c.(1591-1593)tTg>tGg p.L531W MCM8_ENST00000265187.4_Missense_Mutation_p.L515W|MCM8_ENST00000378886.2_Missense_Mutation_p.L571W|MCM8_ENST00000378883.1_Missense_Mutation_p.L484W NM_032485.4|NM_182802.1 NP_115874.3|NP_877954.1 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 531 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 23 CAAGCCTTGTTGGAAGCCATG 0.398000 7 46 0 0 0.004482 0 0 BRAT1 221927 broad.mit.edu 37 7 2584620 2584620 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:2584620G>A ENST00000340611.4 - 4 609 c.353C>T c.(352-354)aCc>aTc p.T118I NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 118 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 GCTGCGCACGGTGGGGACGGC 0.687000 5 10 0 0 0.000602 0 0 LRP1 4035 broad.mit.edu 37 12 57570871 57570871 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:57570871G>A ENST00000243077.3 + 25 4505 c.4039G>A c.(4039-4041)Gag>Aag p.E1347K NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1347 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.E1347K(1) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) GGCCACACCCGAGGGCCTGGC 0.582000 25 103 0 0 0.003954 0 0 PRDM1 639 broad.mit.edu 37 6 106554840 106554840 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:106554840C>T ENST00000369096.4 + 7 2191 c.1957C>T c.(1957-1959)Cat>Tat p.H653Y PRDM1_ENST00000369089.3_Missense_Mutation_p.H519Y|PRDM1_ENST00000369091.2_Missense_Mutation_p.H617Y NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 653 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) CCTGCGACTCCATTCTGGAGA 0.562000 """D, N, Mis, F, S""" DLBCL 18 83 0 0 0.007413 0 0 TNRC6B 23112 broad.mit.edu 37 22 40662517 40662517 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:40662517G>A ENST00000454349.2 + 5 2494 c.2283G>A c.(2281-2283)tgG>tgA p.W761* TNRC6B_ENST00000335727.8_Nonsense_Mutation_p.W761*|TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 761 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 ACAGCAATTGGGAAAGTTCTG 0.517000 3 28 0 0 0.004672 0 0 FAT4 79633 broad.mit.edu 37 4 126371291 126371291 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:126371291G>A ENST00000394329.3 + 9 9133 c.9120G>A c.(9118-9120)tgG>tgA p.W3040* FAT4_ENST00000335110.5_Nonsense_Mutation_p.W1338* NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3040 Cadherin 29. 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 ATACGGGGTGGATTTCAGTAG 0.373000 7 37 0 0 0.003080 0 0 KRTAP5-10 387273 broad.mit.edu 37 11 71276910 71276910 + Missense_Mutation SNP G G A rs36179995 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:71276910G>A ENST00000398531.1 + 1 302 c.277G>A c.(277-279)Ggc>Agc p.G93S KRTAP5-10_ENST00000376536.4_Intron NM_001012710.1 NP_001012728.1 Q6L8G5 KR510_HUMAN keratin associated protein 5-10 93 7 X 4 AA repeats of C-C-X-P. keratin filament endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 12 CTCCAAGGGGGGCTGTGGCTC 0.677000 45 147 0 0 0.013114 0 0 SCN9A 6335 broad.mit.edu 37 2 167060535 167060535 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:167060535G>A ENST00000375387.4 - 26 5047 c.4707C>T c.(4705-4707)tcC>tcT p.S1569S SCN9A_ENST00000409435.1_Silent_p.S1568S|SCN9A_ENST00000409672.1_Silent_p.S1557S|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.S1569S Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1568 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) AGTGTCTGAGGGAGATCAGTT 0.313000 10 18 0 0 0.008291 0 0 OR4A15 81328 broad.mit.edu 37 11 55136058 55136058 + Silent SNP G G A rs141225150 byFrequency TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:55136058G>A ENST00000314706.3 + 1 699 c.699G>A c.(697-699)gcG>gcA p.A233A NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A233A(1) NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ATGGAGGAGCGATTTGTGCTG 0.413000 11 66 0 0 0.010729 0 0 ABCB11 8647 broad.mit.edu 37 2 169791708 169791708 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:169791708G>A ENST00000263817.6 - 23 3166 c.3042C>T c.(3040-3042)ttC>ttT p.F1014F NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 1014 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) ACACATAGCTGAAATGGAGCC 0.438000 23 97 0 0 0.002780 0 0 SOGA3 387104 broad.mit.edu 37 6 127797362 127797362 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:127797362C>T ENST00000556132.1 - 6 2673 c.1809G>A c.(1807-1809)agG>agA p.R603R SOGA3_ENST00000465909.2_Silent_p.R603R|SOGA3_ENST00000525778.1_Silent_p.R603R|SOGA3_ENST00000481848.2_Silent_p.R603R|SOGA3_ENST00000368268.2_Silent_p.R603R NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 603 integral to membrane CGACGATTTTCCTGCCCAGGA 0.607000 37 191 0 0 0.010771 0 0 COL22A1 169044 broad.mit.edu 37 8 139833595 139833595 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:139833595C>T ENST00000303045.6 - 7 1475 c.1029G>A c.(1027-1029)atG>atA p.M343I COL22A1_ENST00000435777.1_Missense_Mutation_p.M343I NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 343 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CAGCATCTTTCATGGCACCCA 0.572000 HNSCC(7;0.00092) 24 132 0 0 0.004656 0 0 BCKDHA 593 broad.mit.edu 37 19 41916585 41916585 + Missense_Mutation SNP A A T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:41916585A>T ENST00000269980.2 + 2 520 c.152A>T c.(151-153)aAg>aTg p.K51M BCKDHA_ENST00000457836.2_Missense_Mutation_p.K29M|CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.K85M|BCKDHA_ENST00000595085.1_Missense_Mutation_p.K85M NM_000709.3|NM_001164783.1 NP_000700.1|NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide 51 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1) 10 CTGGATGACAAGCCCCAGTTC 0.577000 13 64 0 0 0.002450 0 0 OR51F1 256892 broad.mit.edu 37 11 4790947 4790947 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:4790947C>T ENST00000380383.1 - 1 221 c.222G>A c.(220-222)agG>agA p.R74R MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron|OR51F1_ENST00000343430.3_Silent_p.R67R A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 67 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) TGGCTGATAGCCTGAAGAGGA 0.443000 13 27 0 0 0.001855 0 0 PCDH18 54510 broad.mit.edu 37 4 138451643 138451643 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:138451643C>T ENST00000344876.4 - 1 1986 c.1600G>A c.(1600-1602)Gat>Aat p.D534N PCDH18_ENST00000412923.2_Missense_Mutation_p.D534N|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.D314N NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 534 Cadherin 5. 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) TCTTCATGATCAAAGATTCTG 0.423000 12 87 0 0 0.002450 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54930880 54930880 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:54930880C>T ENST00000474759.1 + 26 2399 c.2351C>T c.(2350-2352)tCg>tTg p.S784L CACNA2D3_ENST00000288197.5_Missense_Mutation_p.S784L|CACNA2D3-AS1_ENST00000471265.1_RNA|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.S690L|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.S784L NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 784 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) TTCGTCTACTCGATCCCATTC 0.567000 11 97 0 0 0.001855 0 0 SPATA16 83893 broad.mit.edu 37 3 172634193 172634193 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:172634193C>T ENST00000351008.3 - 9 1600 c.1417G>A c.(1417-1419)Gag>Aag p.E473K NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 473 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) TGGGACTGCTCCTTTACTCTC 0.463000 30 126 0 0 0.012213 0 0 FAAH2 158584 broad.mit.edu 37 X 57515352 57515352 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:57515352C>T ENST00000374900.4 + 11 1706 c.1586C>T c.(1585-1587)cCa>cTa p.P529L FAAH2_ENST00000491179.1_3'UTR NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 529 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 TGGGTCTGTCCAGGAAAGTTT 0.488000 HNSCC(52;0.14) 12 21 0 0 0.013537 0 0 HIVEP2 3097 broad.mit.edu 37 6 143089611 143089611 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:143089611G>A ENST00000367603.2 - 6 5992 c.5250C>T c.(5248-5250)atC>atT p.I1750I HIVEP2_ENST00000012134.2_Silent_p.I1750I|HIVEP2_ENST00000367604.1_Silent_p.I1750I NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1750 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) TTTCCTTTAAGATATTTCCCA 0.363000 12 86 0 0 0.013537 0 0 PRKAA2 5563 broad.mit.edu 37 1 57169911 57169911 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:57169911G>A ENST00000371244.4 + 7 1122 c.1056G>A c.(1054-1056)atG>atA p.M352I NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 352 carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GTTCTTTTATGGATGATAGTG 0.468000 10 42 0 0 0.008291 0 0 TTN 7273 broad.mit.edu 37 2 179569654 179569654 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:179569654C>T ENST00000589042.1 - 104 29868 c.29644G>A c.(29644-29646)Gaa>Aaa p.E9882K TTN_ENST00000342992.6_Missense_Mutation_p.E8638K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E9565K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9565 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) TCCTCAAATTCCTTTTCGTCC 0.323000 18 113 0 0 0.014323 0 0 OR10S1 219873 broad.mit.edu 37 11 123847965 123847965 + Missense_Mutation SNP T T G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:123847965T>G ENST00000531945.1 - 1 523 c.434A>C c.(433-435)cAc>cCc p.H145P NM_001004474.1 NP_001004474.1 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, member 1 145 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 36 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CACTGGGTAGTGCAGGGGTTG 0.547000 8 41 0 0 0.003080 0 0 TMPRSS11F 389208 broad.mit.edu 37 4 68964644 68964644 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:68964644C>T ENST00000356291.2 - 2 183 c.124G>A c.(124-126)Gga>Aga p.G42R NM_207407.2 NP_997290.2 Q6ZWK6 TM11F_HUMAN transmembrane protease, serine 11F 42 proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4) 39 ATTGCAATTCCTATGATTGCT 0.383000 11 37 0 0 0.010729 0 0 PPP1R36 145376 broad.mit.edu 37 14 65019549 65019549 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:65019549C>T ENST00000298705.1 + 3 248 c.152C>T c.(151-153)tCt>tTt p.S51F RP11-973N13.3_ENST00000554454.1_RNA|RP11-973N13.3_ENST00000556634.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 51 GCAGAAGATTCTGTCCAGTGG 0.388000 19 33 0 0 0.010504 0 0 RTTN 25914 broad.mit.edu 37 18 67742728 67742728 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:67742728G>A ENST00000255674.6 - 33 4710 c.4424C>T c.(4423-4425)cCt>cTt p.P1475L RTTN_ENST00000437017.1_Missense_Mutation_p.P1475L|RTTN_ENST00000454359.1_3'UTR NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 1475 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) CTGAAGGGCAGGTTTTCCAAT 0.408000 18 67 0 0 0.008871 0 0 NUAK2 81788 broad.mit.edu 37 1 205273440 205273440 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:205273440G>A ENST00000367157.3 - 7 1151 c.1025C>T c.(1024-1026)cCc>cTc p.P342L NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 342 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) CTCCAGGAGGGGGCGGGAGGA 0.672000 8 25 0 0 0.006214 0 0 NUP214 8021 broad.mit.edu 37 9 134072836 134072836 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:134072836G>A ENST00000359428.5 + 29 4099 c.3955G>A c.(3955-3957)Gag>Aag p.E1319K NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000483497.2_Missense_Mutation_p.E145K|NUP214_ENST00000411637.2_Missense_Mutation_p.E1309K|NUP214_ENST00000451030.1_Missense_Mutation_p.E1320K P35658 NU214_HUMAN nucleoporin 214kDa 1319 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) CAAGCTGGGAGAGCTTCTGTT 0.522000 T """DEK, SET, ABL1""" """AML, T-ALL""" 16 110 0 0 0.006122 0 0 NLRP8 126205 broad.mit.edu 37 19 56466522 56466522 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:56466522C>T ENST00000291971.3 + 3 1169 c.1098C>T c.(1096-1098)ttC>ttT p.F366F NLRP8_ENST00000590542.1_Silent_p.F366F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 366 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) TCAAGTATTTCCAGATGTATT 0.463000 10 76 0 0 0.008291 0 0 SHROOM3 57619 broad.mit.edu 37 4 77699981 77699981 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:77699981G>A ENST00000296043.6 + 11 6595 c.5642G>A c.(5641-5643)aGg>aAg p.R1881K RP11-359D14.3_ENST00000449007.1_RNA NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 1881 ASD2. apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) TACGAGAAAAGGAAGATCCTG 0.537000 9 41 0 0 0.006214 0 0 CYP2C19 1557 broad.mit.edu 37 10 96540261 96540261 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:96540261C>T ENST00000371321.3 + 4 569 c.487C>T c.(487-489)Ccc>Tcc p.P163S CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 163 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTTAGCTTCACCCTGTGATCC 0.313000 19 99 0 0 0.012319 0 0 NEK11 79858 broad.mit.edu 37 3 130947510 130947510 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:130947510C>T ENST00000383366.4 + 15 1831 c.1538C>T c.(1537-1539)cCt>cTt p.P513L NEK11_ENST00000429253.2_Missense_Mutation_p.P513L|NEK11_ENST00000508196.1_Missense_Mutation_p.P513L|NEK11_ENST00000510688.1_Missense_Mutation_p.P513L|NEK11_ENST00000510769.1_Missense_Mutation_p.P408L|NEK11_ENST00000412440.2_Missense_Mutation_p.P329L NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 513 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 GGATCCCAGCCTGCTTACAGA 0.448000 9 43 0 0 0.006214 0 0 C14orf166B 145497 broad.mit.edu 37 14 77327179 77327179 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:77327179C>T ENST00000393774.3 + 11 1372 c.1248C>T c.(1246-1248)atC>atT p.I416I NM_194287.2 NP_919263.2 Q0VAA2 CN16B_HUMAN chromosome 14 open reading frame 166B 416 breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1) 18 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) TGAAACTGATCCAGGTGAGCT 0.552000 8 50 0 0 0.006214 0 0 ZNF347 84671 broad.mit.edu 37 19 53644315 53644315 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:53644315C>T ENST00000452676.2 - 5 2195 c.1769G>A c.(1768-1770)gGa>gAa p.G590E ZNF347_ENST00000601469.2_Missense_Mutation_p.G590E|ZNF347_ENST00000334197.7_Missense_Mutation_p.G589E|ZNF347_ENST00000601804.1_Intron NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 589 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) AGTATGAATTCCCCGATGTCT 0.408000 12 74 0 0 0.001855 0 0 FLRT3 23767 broad.mit.edu 37 20 14306665 14306665 + Missense_Mutation SNP A A C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:14306665A>C ENST00000378053.3 - 2 1744 c.1488T>G c.(1486-1488)tgT>tgG p.C496W FLRT3_ENST00000341420.4_Missense_Mutation_p.C496W|MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron NM_013281.3 NP_037413.1 Q9NZU0 FLRT3_HUMAN fibronectin leucine rich transmembrane protein 3 496 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(1;0.0464) COAD - Colon adenocarcinoma(2;0.129) Colorectal(1;0.0393) CAGTCTCAATACAAACAGGAG 0.448000 5 131 0 0 0.000602 0 0 MATR3 9782 broad.mit.edu 37 5 138643519 138643519 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:138643519C>T ENST00000394800.2 + 6 964 c.415C>T c.(415-417)Ccc>Tcc p.P139S MATR3_ENST00000510056.1_Missense_Mutation_p.P139S|MATR3_ENST00000509990.1_Missense_Mutation_p.P139S|MATR3_ENST00000361059.2_Missense_Mutation_p.P139S|MATR3_ENST00000502929.1_Missense_Mutation_p.P139S|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000394805.3_Missense_Mutation_p.P139S|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000503811.1_Intron P43243 MATR3_HUMAN matrin 3 139 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TGAGAATTTGCCCCAAATCCT 0.473000 7 32 0 0 0.001984 0 0 AP1G2 8906 broad.mit.edu 37 14 24030569 24030569 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:24030569C>T ENST00000308724.5 - 18 2684 c.1929G>A c.(1927-1929)ctG>ctA p.L643L RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Silent_p.L643L NM_003917.2 NP_003908.1 O75843 AP1G2_HUMAN adaptor-related protein complex 1, gamma 2 subunit 643 interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport AP-1 adaptor complex|endosome membrane protein binding|protein transporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 28 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00672) GGGAGGGGTCCAGATGGGGAG 0.597000 15 62 0 0 0.004990 0 0 EGFR 1956 broad.mit.edu 37 7 55220311 55220311 + Missense_Mutation SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:55220311A>G ENST00000275493.2 + 6 878 c.701A>G c.(700-702)aAc>aGc p.N234S EGFR_ENST00000455089.1_Missense_Mutation_p.N189S|EGFR_ENST00000454757.2_Missense_Mutation_p.N181S|EGFR_ENST00000344576.2_Missense_Mutation_p.N234S|EGFR_ENST00000442591.1_Missense_Mutation_p.N234S|EGFR_ENST00000420316.2_Missense_Mutation_p.N234S|EGFR_ENST00000342916.3_Missense_Mutation_p.N234S NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 234 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCTGCCACAACCAGTGTGCT 0.647000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 20 124 0 0 0.007413 0 0 KIAA1377 57562 broad.mit.edu 37 11 101834560 101834560 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:101834560C>T ENST00000263468.8 + 6 3064 c.2794C>T c.(2794-2796)Ccc>Tcc p.P932S KIAA1377_ENST00000537689.1_Missense_Mutation_p.P733S NM_020802.2 NP_065853.2 Q9P2H0 K1377_HUMAN KIAA1377 932 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AGAATCAGTTCCCTTATGGAA 0.378000 17 78 0 0 0.007413 0 0 NR6A1 2649 broad.mit.edu 37 9 127289093 127289093 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:127289093T>C ENST00000487099.2 - 8 1323 c.1166A>G c.(1165-1167)tAt>tGt p.Y389C NR6A1_ENST00000344523.4_Missense_Mutation_p.Y388C|NR6A1_ENST00000373584.3_Missense_Mutation_p.Y385C|NR6A1_ENST00000416460.2_Missense_Mutation_p.Y384C NM_001278546.1 NP_001265475.1 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 389 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 p.Y389C(1) NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 17 CATGCAAGCATACTCCTCGTT 0.498000 26 92 0 0 0.004656 0 0 FOXRED2 80020 broad.mit.edu 37 22 36892167 36892167 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:36892167C>T ENST00000397224.4 - 7 1564 c.1471G>A c.(1471-1473)Ggg>Agg p.G491R FOXRED2_ENST00000216187.6_Missense_Mutation_p.G491R|FOXRED2_ENST00000366463.3_Missense_Mutation_p.G43R|FOXRED2_ENST00000397223.4_Missense_Mutation_p.G491R NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 491 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 ACGAAGAGCCCGTGCTTTGCC 0.547000 13 109 0 0 0.002450 0 0 OR2B11 127623 broad.mit.edu 37 1 247614409 247614409 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:247614409G>A ENST00000318749.6 - 1 899 c.876C>T c.(874-876)ttC>ttT p.F292F NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 292 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-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) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GGGTGTAGGTGAAGGGATTGA 0.483000 29 178 0 0 0.013726 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802120 185802120 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:185802120C>T ENST00000302277.6 + 4 2591 c.1997C>T c.(1996-1998)tCc>tTc p.S666F NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 666 intracellular zinc ion binding p.S666Y(1) NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GAATCCATATCCTTAAGTGAC 0.318000 9 59 0 0 0.006214 0 0 SLC38A9 153129 broad.mit.edu 37 5 54948435 54948435 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:54948435G>A ENST00000539768.1 - 8 873 c.874C>T c.(874-876)Ccc>Tcc p.P292S SLC38A9_ENST00000515629.1_Missense_Mutation_p.P229S|SLC38A9_ENST00000512595.1_Missense_Mutation_p.P265S|SLC38A9_ENST00000396865.2_Missense_Mutation_p.P292S|SLC38A9_ENST00000416547.2_Missense_Mutation_p.P168S|SLC38A9_ENST00000318672.3_Missense_Mutation_p.P292S Q8NBW4 S38A9_HUMAN solute carrier family 38, member 9 292 amino acid transport|sodium ion transport integral to membrane endometrium(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181) AGATAAAAGGGGACTGTCCTG 0.433000 8 36 0 0 0.004482 0 0 FAT4 79633 broad.mit.edu 37 4 126242301 126242301 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:126242301C>T ENST00000394329.3 + 1 4748 c.4735C>T c.(4735-4737)Cgt>Tgt p.R1579C NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1579 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 CATTGTTGATCGTTATAGTGG 0.458000 22 118 0 0 0.014323 0 0 EPPK1 83481 broad.mit.edu 37 8 144941969 144941969 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:144941969C>T ENST00000525985.1 - 2 5524 c.5453G>A c.(5452-5454)gGa>gAa p.G1818E P58107 EPIPL_HUMAN epiplakin 1 1818 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) ACTCTGGGCTCCATACTCCTG 0.547000 45 141 0 0 0.010771 0 0 MROH8 140699 broad.mit.edu 37 20 35738679 35738679 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:35738679C>T ENST00000400441.3 - 22 2893 c.2894G>A c.(2893-2895)aGa>aAa p.R965K MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.R794K maestro heat-like repeat family member 8 GACTGCTGATCTTCTGATGGG 0.378000 54 121 0 0 0.014410 0 0 SCN9A 6335 broad.mit.edu 37 2 167141319 167141319 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:167141319G>A ENST00000375387.4 - 12 1961 c.1621C>T c.(1621-1623)Cgt>Tgt p.R541C SCN9A_ENST00000409435.1_Missense_Mutation_p.R540C|SCN9A_ENST00000409672.1_Missense_Mutation_p.R540C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R541C Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 540 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) AAGGAGCCACGAATGCTGAGT 0.423000 7 16 0 0 0.004482 0 0 PSMD3 5709 broad.mit.edu 37 17 38151308 38151308 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:38151308C>T ENST00000264639.4 + 7 1257 c.1083C>T c.(1081-1083)ttC>ttT p.F361F PSMD3_ENST00000541736.1_Silent_p.F223F NM_002809.3 NP_002800.2 O43242 PSMD3_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 361 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(19;0.000442) TGCCCTATTTCCTTCTGACTC 0.587000 32 134 0 0 0.009535 0 0 OVGP1 5016 broad.mit.edu 37 1 111969247 111969247 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:111969247G>A ENST00000369732.3 - 3 127 c.72C>T c.(70-72)ctC>ctT p.L24L OVGP1_ENST00000540696.1_5'UTR NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 24 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity p.L66L(1)|p.L24L(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) AATAACACACGAGTTTATGGG 0.547000 3 19 0 0 0.004672 0 0 MCTP2 55784 broad.mit.edu 37 15 95013586 95013586 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:95013586C>T ENST00000357742.4 + 20 2385 c.2385C>T c.(2383-2385)ttC>ttT p.F795F MCTP2_ENST00000451018.3_Silent_p.F740F NM_018349.3 NP_060819.3 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 795 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2) 49 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) CGGTCCCCTTCCTTTCATCTC 0.408000 16 89 0 0 0.004990 0 0 SLC13A1 6561 broad.mit.edu 37 7 122757627 122757627 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:122757627C>T ENST00000194130.2 - 14 1587 c.1548G>A c.(1546-1548)ctG>ctA p.L516L SLC13A1_ENST00000539873.1_3'UTR NM_022444.3 NP_071889.2 Q9BZW2 S13A1_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 1 516 integral to membrane|plasma membrane sodium:sulfate symporter activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 45 Succinic acid(DB00139) TAGAAGGTATCAGAATATAAA 0.363000 4 39 0 0 0.009096 0 0 AKAP6 9472 broad.mit.edu 37 14 33293746 33293746 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:33293746G>A ENST00000280979.4 + 13 6897 c.6727G>A c.(6727-6729)Gag>Aag p.E2243K AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2243 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) AGAAAACTTAGAGTTTACTCC 0.443000 12 30 0 0 0.002450 0 0 RGS18 64407 broad.mit.edu 37 1 192128357 192128357 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:192128357G>A ENST00000367460.3 + 2 308 c.127G>A c.(127-129)Gaa>Aaa p.E43K RGS18_ENST00000481707.1_3'UTR NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 43 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CAGAGCTAAGGAAAAAAGAAA 0.393000 8 20 0 0 0.004482 0 0 DENND1A 57706 broad.mit.edu 37 9 126319965 126319965 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:126319965G>A ENST00000373624.2 - 13 1078 c.877C>T c.(877-879)Ctg>Ttg p.L293L DENND1A_ENST00000373618.1_Silent_p.L261L|DENND1A_ENST00000373620.3_Silent_p.L293L|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000542603.1_Intron|DENND1A_ENST00000394215.2_Silent_p.L263L|DENND1A_ENST00000394219.3_Silent_p.L261L NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 293 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 CTGTTCTTCAGGGAAGAGATC 0.537000 7 22 0 0 0.003080 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204423835 204423835 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:204423835G>A ENST00000367187.3 - 13 2584 c.2028C>T c.(2026-2028)ttC>ttT p.F676F PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Silent_p.F676F NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 676 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GGTACTTGGAGAAGTGAGCTC 0.557000 22 161 0 0 0.014323 0 0 STXBP5L 9515 broad.mit.edu 37 3 120957827 120957827 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:120957827C>T ENST00000273666.6 + 13 1465 c.1194C>T c.(1192-1194)atC>atT p.I398I STXBP5L_ENST00000497029.1_Silent_p.I398I|STXBP5L_ENST00000492541.1_Silent_p.I398I|STXBP5L_ENST00000472879.1_Silent_p.I398I|STXBP5L_ENST00000471454.1_Silent_p.I398I NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 398 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) GTTTTCCAATCTTTGAAAATC 0.308000 4 24 0 0 0.009096 0 0 SLIT3 6586 broad.mit.edu 37 5 168199885 168199885 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:168199885C>T ENST00000519560.1 - 14 1779 c.1360G>A c.(1360-1362)Gac>Aac p.D454N SLIT3_ENST00000332966.8_Missense_Mutation_p.D454N|SLIT3_ENST00000404867.3_Missense_Mutation_p.D454N NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053.1 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 454 LRRCT 2. 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) ATGGGGTTGTCCTGGAGGTAG 0.612000 13 45 0 0 0.002450 0 0 COL28A1 340267 broad.mit.edu 37 7 7571399 7571399 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:7571399C>T ENST00000399429.3 - 3 401 c.261G>A c.(259-261)ttG>ttA p.L87L NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 87 VWFA 1. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TGTCATATTCCAAGGAGCGAC 0.423000 31 56 0 0 0.012213 0 0 CSTF2T 23283 broad.mit.edu 37 10 53458193 53458193 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:53458193G>A ENST00000331173.4 - 1 1162 c.1117C>T c.(1117-1119)Cgt>Tgt p.R373C PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 373 Gly-rich. mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GAAGGGCCACGAGTGTCATGA 0.562000 19 90 0 0 0.010504 0 0 TNN 63923 broad.mit.edu 37 1 175092555 175092555 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:175092555C>T ENST00000239462.4 + 12 2783 c.2670C>T c.(2668-2670)aaC>aaT p.N890N NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 890 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCCCCAAAAACCTAGTGACTG 0.483000 13 57 0 0 0.001855 0 0 KIAA1429 25962 broad.mit.edu 37 8 95539567 95539567 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:95539567G>A ENST00000297591.5 - 8 980 c.905C>T c.(904-906)tCc>tTc p.S302F KIAA1429_ENST00000437199.1_Missense_Mutation_p.S302F|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S302F NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 302 Glu-rich. mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTCATCACTGGAAATTTGTTC 0.318000 6 16 0 0 0.001168 0 0 TMEM74 157753 broad.mit.edu 37 8 109796614 109796614 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:109796614G>A ENST00000297459.3 - 2 892 c.714C>T c.(712-714)ctC>ctT p.L238L TMEM74_ENST00000518838.1_Intron NM_153015.1 NP_694560.1 Q96NL1 TMM74_HUMAN transmembrane protein 74 238 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CCAGCGTGAGGAGGCAGAGCC 0.602000 9 34 0 0 0.004482 0 0 DMXL2 23312 broad.mit.edu 37 15 51830595 51830595 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:51830595C>T ENST00000251076.5 - 10 1447 c.1160G>A c.(1159-1161)gGc>gAc p.G387D DMXL2_ENST00000543779.2_Missense_Mutation_p.G387D|DMXL2_ENST00000449909.3_Missense_Mutation_p.G387D NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 387 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) AACTACAAAGCCCCCATTTCC 0.299000 3 22 0 0 0.009096 0 0 TRIM24 8805 broad.mit.edu 37 7 138264074 138264074 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:138264074G>A ENST00000343526.4 + 15 2597 c.2382G>A c.(2380-2382)caG>caA p.Q794Q TRIM24_ENST00000415680.2_Silent_p.Q760Q O15164 TIF1A_HUMAN tripartite motif containing 24 794 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 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 GACTTCACCAGGACAATTCCT 0.478000 29 71 0 0 0.013726 0 0 ANKRD22 118932 broad.mit.edu 37 10 90583082 90583082 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:90583082G>A ENST00000371930.4 - 5 663 c.453C>T c.(451-453)atC>atT p.I151I ANKRD22_ENST00000476963.1_5'UTR NM_144590.2 NP_653191.2 Q5VYY1 ANR22_HUMAN ankyrin repeat domain 22 151 NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) AGAGCAGAGGGATAAGAGACT 0.488000 22 109 0 0 0.003954 0 0 MUC16 94025 broad.mit.edu 37 19 9056720 9056720 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9056720C>T ENST00000397910.4 - 3 30929 c.30726G>A c.(30724-30726)ggG>ggA p.G10242G NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10244 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 AGGAGGTTATCCCAGTGGACT 0.458000 12 51 0 0 0.010729 0 0 SYNRG 11276 broad.mit.edu 37 17 35902537 35902537 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:35902537G>A ENST00000339208.6 - 15 2879 c.2739C>T c.(2737-2739)ctC>ctT p.L913L SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000585472.1_Silent_p.L834L|SYNRG_ENST00000345615.4_Silent_p.L835L|SYNRG_ENST00000346661.4_Silent_p.L913L|SYNRG_ENST00000394378.2_Silent_p.L835L NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 913 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 TTCCTGCTGAGAGGACAAATG 0.458000 10 95 0 0 0.006214 0 0 OR9Q1 219956 broad.mit.edu 37 11 57947181 57947181 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:57947181G>A ENST00000335397.3 + 3 581 c.265G>A c.(265-267)Ggg>Agg p.G89R NM_001005212.3 NP_001005212.1 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, member 1 89 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Breast(21;0.222) GCTGGAGCATGGGGCAGCTTT 0.527000 18 79 0 0 0.007413 0 0 SLX4 84464 broad.mit.edu 37 16 3639602 3639602 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:3639602G>A ENST00000294008.3 - 12 4677 c.4037C>T c.(4036-4038)cCc>cTc p.P1346L NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1346 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CCCGGGGTGGGGACGGGAAGG 0.672000 Direct reversal of damage 23 131 0 0 0.003330 0 0 OBSCN 84033 broad.mit.edu 37 1 228560760 228560760 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:228560760G>A ENST00000570156.2 + 105 25226 c.25152G>A c.(25150-25152)cgG>cgA p.R8384R OBSCN_ENST00000422127.1_Silent_p.R7427R|OBSCN_ENST00000366707.4_Silent_p.R5061R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7427 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) ACATCTCCCGGATCCTGAAGG 0.637000 9 29 0 0 0.006214 0 0 ZNF655 79027 broad.mit.edu 37 7 99159542 99159542 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:99159542C>T ENST00000425063.1 + 3 270 c.168C>T c.(166-168)ccC>ccT p.P56P ZNF655_ENST00000440391.1_Intron|ZNF655_ENST00000357864.2_Intron|ZNF655_ENST00000424881.1_Intron|ZNF655_ENST00000394163.2_Intron|ZNF655_ENST00000449244.1_Silent_p.P56P|ZNF655_ENST00000454654.1_Silent_p.P56P|ZNF655_ENST00000493277.1_Intron|ZNF655_ENST00000320583.5_Silent_p.P56P|ZNF655_ENST00000252713.4_Intron Q8N720 ZN655_HUMAN zinc finger protein 655 8 G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 16 all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) CTGCTCTTCCCCGTGAGGGAA 0.597000 9 16 0 0 0.004482 0 0 HSD3B7 80270 broad.mit.edu 37 16 30999285 30999285 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:30999285C>T ENST00000297679.5 + 7 984 c.891C>T c.(889-891)ttC>ttT p.F297F HSD3B7_ENST00000262520.6_3'UTR|HSD3B7_ENST00000353250.5_3'UTR NM_025193.3 NP_079469.2 Q9H2F3 3BHS7_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 297 bile acid biosynthetic process endoplasmic reticulum membrane|integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TGCTGGTGTTCCTGGCTGCCC 0.657000 28 121 0 0 0.005443 0 0 BLNK 29760 broad.mit.edu 37 10 97960771 97960771 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:97960771G>A ENST00000224337.5 - 14 1119 c.978C>T c.(976-978)ccC>ccT p.P326P BLNK_ENST00000413476.2_Silent_p.P326P|BLNK_ENST00000371176.2_Silent_p.P303P|BLNK_ENST00000427367.2_Silent_p.P326P NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 326 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) ATGAAAAGCTGGGTAGGGGCC 0.398000 23 94 0 0 0.004656 0 0 GRM6 2916 broad.mit.edu 37 5 178417676 178417676 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:178417676C>T ENST00000231188.5 - 4 1107 c.929G>A c.(928-930)gGa>gAa p.G310E GRM6_ENST00000517717.1_Missense_Mutation_p.G310E NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 310 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) GGTCTTGGCTCCCCAGCTGTC 0.667000 6 10 0 0 0.001168 0 0 SIDT2 51092 broad.mit.edu 37 11 117061423 117061423 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:117061423C>T ENST00000324225.4 + 18 2233 c.1702C>T c.(1702-1704)Cat>Tat p.H568Y SIDT2_ENST00000431081.2_Missense_Mutation_p.H565Y NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 568 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) TGCTTGCTATCATGTGTGCCC 0.537000 9 44 0 0 0.008291 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37486234 37486234 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:37486234C>T ENST00000374660.1 + 34 2928 c.2829C>T c.(2827-2829)ttC>ttT p.F943F ANKRD30A_ENST00000361713.1_Silent_p.F824F|ANKRD30A_ENST00000602533.1_Silent_p.F824F Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 997 nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.F824F(1) NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CATCTGCCTTCGAGGTATTTA 0.328000 15 101 0 0 0.004007 0 0 BTF3 689 broad.mit.edu 37 5 72798383 72798383 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:72798383C>T ENST00000380591.3 + 3 491 c.272C>T c.(271-273)tCc>tTc p.S91F BTF3_ENST00000335895.8_Missense_Mutation_p.S47F|BTF3_ENST00000514505.2_3'UTR NM_001037637.1 NP_001032726.1 P20290 BTF3_HUMAN basic transcription factor 3 91 NAC-A/B. Missing (in Ref. 2; AAA58398). regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus protein binding endometrium(1)|large_intestine(2)|lung(2) 5 Lung NSC(167;0.00405)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;2.73e-54) CTTCAGTTCTCCTTAAAGAAG 0.378000 4 22 0 0 0.000602 0 0 CLSTN3 9746 broad.mit.edu 37 12 7288115 7288115 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:7288115C>T ENST00000537408.1 + 3 1150 c.612C>T c.(610-612)ttC>ttT p.F204F CLSTN3_ENST00000266546.6_Silent_p.F192F Q9BQT9 CSTN3_HUMAN calsyntenin 3 192 Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 ACACCCCTTTCCTCATTGACA 0.577000 16 94 0 0 0.004990 0 0 SAMD3 154075 broad.mit.edu 37 6 130497110 130497110 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:130497110C>T ENST00000532763.1 - 7 821 c.692G>A c.(691-693)cGa>cAa p.R231Q SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000457563.2_Missense_Mutation_p.R257Q|SAMD3_ENST00000439090.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000368134.2_Missense_Mutation_p.R233Q Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 233 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TATGGGTCTTCGAACATATTT 0.343000 9 61 0 0 0.006214 0 0 DST 667 broad.mit.edu 37 6 56481609 56481609 + Missense_Mutation SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:56481609G>T ENST00000370765.6 - 24 6763 c.6656C>A c.(6655-6657)tCt>tAt p.S2219Y DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 1562 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AGAAGAATAAGAATATCCCAC 0.413000 10 76 1.58986e-06 1.64737e-06 0.008291 1 0 CCDC73 493860 broad.mit.edu 37 11 32724469 32724469 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:32724469C>T ENST00000531481.1 - 4 505 c.229G>A c.(229-231)Gaa>Aaa p.E77K CCDC73_ENST00000335185.5_Missense_Mutation_p.E77K|CCDC73_ENST00000534415.1_5'UTR Q6ZRK6 CCD73_HUMAN coiled-coil domain containing 73 77 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 51 Breast(20;0.112) GCCAATGTTTCCTTTTGATTC 0.318000 20 79 0 0 0.012319 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17067464 17067464 + Nonsense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:17067464C>T ENST00000262096.8 + 9 1449 c.754C>T c.(754-756)Cga>Tga p.R252* NM_016353.4 NP_057437.1 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 252 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) TCCAGTATTTCGACATGGAAC 0.343000 7 10 0 0 0.003080 0 0 ANO4 121601 broad.mit.edu 37 12 101493497 101493497 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:101493497G>A ENST00000392979.3 + 21 2404 c.2044_splice c.e21+1 p.M681_splice ANO4_ENST00000392977.3_Splice_Site_p.M716_splice|ANO4_ENST00000550015.1_Splice_Site_p.M236_splice|ANO4_ENST00000299222.9_Splice_Site_p.M236_splice NM_178826.3 NP_849148.2 Q32M45 ANO4_HUMAN anoctamin 4 716 chloride channel complex chloride channel activity NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1) 78 ACTTAGAAATGAGTATGGAAA 0.348000 HNSCC(74;0.22) 6 27 0 0 0.001168 0 0 HDAC9 9734 broad.mit.edu 37 7 18631235 18631235 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:18631235C>T ENST00000406451.3 + 5 653 c.503C>T c.(502-504)tCc>tTc p.S168F HDAC9_ENST00000432645.2_Missense_Mutation_p.S168F|HDAC9_ENST00000406072.1_Missense_Mutation_p.S199F|HDAC9_ENST00000405010.3_Missense_Mutation_p.S168F|HDAC9_ENST00000417496.2_Missense_Mutation_p.S210F|HDAC9_ENST00000401921.1_Missense_Mutation_p.S171F|HDAC9_ENST00000441542.2_Missense_Mutation_p.S171F|HDAC9_ENST00000456174.2_Missense_Mutation_p.S140F|HDAC9_ENST00000524023.1_Missense_Mutation_p.S137F|HDAC9_ENST00000428307.2_Missense_Mutation_p.S168F NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 168 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 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) AAAAATCATTCCGTGAGCCGC 0.463000 21 46 0 0 0.014323 0 0 GALNT8 26290 broad.mit.edu 37 12 4829980 4829980 + Missense_Mutation SNP C C T rs150045663 byFrequency TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:4829980C>T ENST00000252318.2 + 1 474 c.137C>T c.(136-138)cCt>cTt p.P46L RP11-234B24.6_ENST00000544741.2_Intron NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 46 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 AGGGAGCTTCCTTTACATCTG 0.468000 20 73 0 0 0.012319 0 0 OR4C15 81309 broad.mit.edu 37 11 55322113 55322113 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:55322113C>T ENST00000314644.2 + 1 331 c.331C>T c.(331-333)Cct>Tct p.P111S NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 57 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 TCTGGTGTCTCCTATGTACTT 0.433000 HNSCC(20;0.049) 20 129 0 0 0.008871 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955419 18955419 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:18955419C>T ENST00000302797.3 - 1 1137 c.913G>A c.(913-915)Gga>Aga p.G305R NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 305 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 AGCTGCCCTCCACCTTCATCC 0.552000 13 80 0 0 0.001855 0 0 PLCL2 23228 broad.mit.edu 37 3 17051844 17051844 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:17051844C>T ENST00000418129.2 + 2 1093 c.628C>T c.(628-630)Cat>Tat p.H210Y PLCL2_ENST00000396755.2_Missense_Mutation_p.H210Y|PLCL2_ENST00000432376.1_Missense_Mutation_p.H210Y|PLCL2_ENST00000460467.1_Intron NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C-like 2 336 PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.H210Y(1) breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 43 TGAGGTTTTTCATGAGCTTTG 0.338000 12 37 0 0 0.013537 0 0 TRPM7 54822 broad.mit.edu 37 15 50901824 50901824 + Missense_Mutation SNP A A T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:50901824A>T ENST00000313478.7 - 19 2815 c.2534T>A c.(2533-2535)tTt>tAt p.F845Y TRPM7_ENST00000560955.1_Missense_Mutation_p.F845Y NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 845 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) AAAGGCATAAAACTTTCGCGT 0.323000 7 38 0 0 0.004482 0 0 KDM5C 8242 broad.mit.edu 37 X 53250049 53250049 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:53250049G>A ENST00000375401.3 - 2 732 c.200C>T c.(199-201)cCc>cTc p.P67L KDM5C_ENST00000404049.3_Missense_Mutation_p.P67L|KDM5C_ENST00000375379.3_Missense_Mutation_p.P67L|KDM5C_ENST00000375383.3_Missense_Mutation_p.P67L|KDM5C_ENST00000452825.3_Intron NM_004187.3 NP_004178.2 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 67 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 CTGGATTCGGGGGGTAAACCT 0.507000 """N, F, S""" clear cell renal carcinoma 7 25 0 0 0.003080 0 0 MUC16 94025 broad.mit.edu 37 19 9073747 9073747 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9073747G>A ENST00000397910.4 - 3 13902 c.13699C>T c.(13699-13701)Cca>Tca p.P4567S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 4569 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 GGAACCATTGGAGATGTGGCT 0.507000 9 52 0 0 0.006214 0 0 ZC3H13 23091 broad.mit.edu 37 13 46554046 46554046 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:46554046C>T ENST00000242848.4 - 11 2162 c.1814G>A c.(1813-1815)aGa>aAa p.R605K ZC3H13_ENST00000282007.3_Missense_Mutation_p.R605K Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 605 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) ATATCTATCTCTTTCAGGATA 0.438000 15 89 0 0 0.007413 0 0 MYO3B 140469 broad.mit.edu 37 2 171056776 171056776 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:171056776G>A ENST00000334231.6 + 3 330 c.330G>A c.(328-330)caG>caA p.Q110Q MYO3B_ENST00000408978.4_Silent_p.Q101Q|MYO3B_ENST00000409044.3_Silent_p.Q101Q|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 101 Protein kinase. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 TAGGGGGACAGCTGTGGCTGG 0.453000 11 49 0 0 0.010729 0 0 DNAH5 1767 broad.mit.edu 37 5 13885104 13885104 + Missense_Mutation SNP A A C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:13885104A>C ENST00000265104.4 - 19 3081 c.2977T>G c.(2977-2979)Ttc>Gtc p.F993V CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 993 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTACCCCGGAAGTTAATTGTG 0.443000 Kartagener syndrome 16 66 0 0 0.008871 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237634 30237634 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:30237634G>A ENST00000378988.4 + 2 1038 c.937G>A c.(937-939)Gat>Aat p.D313N NM_002364.4 NP_002355.2 O15479 MAGB2_HUMAN melanoma antigen family B, 2 313 protein binding breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 AGCTTTGAAAGATGAAGAGAA 0.488000 13 14 0 0 0.001855 0 0 RFC1 5981 broad.mit.edu 37 4 39304170 39304170 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:39304170G>A ENST00000381897.1 - 18 2522 c.2389C>T c.(2389-2391)Cct>Tct p.P797S RFC1_ENST00000349703.2_Missense_Mutation_p.P796S NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 797 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 ATAGCTGGAGGGGGAATCTTT 0.318000 7 33 0 0 0.004482 0 0 CSMD1 64478 broad.mit.edu 37 8 3263610 3263610 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:3263610G>A ENST00000520002.1 - 16 2763 c.2208C>T c.(2206-2208)tcC>tcT p.S736S CSMD1_ENST00000602723.1_Silent_p.S736S|CSMD1_ENST00000400186.3_Silent_p.S736S|CSMD1_ENST00000602557.1_Silent_p.S736S|CSMD1_ENST00000542608.1_Silent_p.S735S|CSMD1_ENST00000539096.1_Silent_p.S735S|CSMD1_ENST00000537824.1_Silent_p.S735S Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 736 Sushi 4. 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) TGCAGGTAATGGACTCGGATC 0.547000 8 43 0 0 0.004482 0 0 ZNF479 90827 broad.mit.edu 37 7 57193746 57193746 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:57193746C>T ENST00000331162.4 - 4 511 c.241G>A c.(241-243)Gag>Aag p.E81K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 81 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) GCTACCATCTCATTTCTCTTT 0.413000 38 83 0 0 0.013114 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555176 44555176 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:44555176C>T ENST00000330682.2 - 1 1273 c.1038G>A c.(1036-1038)agG>agA p.R346R KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 346 Activation domain (By similarity). 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 CCGGATTGTTCCTAGGCACCC 0.652000 19 1537 0 0 0.010729 0 0 PLEKHG6 55200 broad.mit.edu 37 12 6425508 6425508 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:6425508G>A ENST00000449001.2 + 6 1092 c.598G>A c.(598-600)Gag>Aag p.E200K PLEKHG6_ENST00000396988.3_Missense_Mutation_p.E232K|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.E232K|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.E232K NM_001144857.1 NP_001138329.1 Q3KR16 PKHG6_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 6 232 DH. regulation of Rho protein signal transduction cleavage furrow|cytoplasm|spindle pole GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4) 23 GCCCACCCTGGAGGAGACTCG 0.627000 3 7 0 0 0.004672 0 0 CMYA5 202333 broad.mit.edu 37 5 79033333 79033333 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:79033333G>A ENST00000446378.2 + 2 8776 c.8745G>A c.(8743-8745)aaG>aaA p.K2915K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2915 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) AAATGCCCAAGGAACCTGAAG 0.383000 8 42 0 0 0.004482 0 0 DNAH17 8632 broad.mit.edu 37 17 76570873 76570873 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:76570873C>T ENST00000389840.5 - 2 391 c.267G>A c.(265-267)aaG>aaA p.K89K DNAH17_ENST00000585328.1_Silent_p.K89K 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) TGTAGTTGTCCTTGTTGATGT 0.582000 20 111 0 0 0.012319 0 0 CACNA1D 776 broad.mit.edu 37 3 53844087 53844087 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:53844087C>T ENST00000288139.3 + 48 6132 c.6014C>T c.(6013-6015)cCa>cTa p.P2005L CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1961L|CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1985L NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1985 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) GCCACCCCTCCAGCAACCCCT 0.622000 12 60 0 0 0.010729 0 0 IGKV1-17 28937 broad.mit.edu 37 2 89417058 89417058 + RNA SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:89417058G>A ENST00000490686.1 - 0 152 GGCAAGTGATGGTGACTCTGT 0.498000 29 149 0 0 0.012213 0 0 SCLT1 132320 broad.mit.edu 37 4 129867241 129867241 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:129867241G>A ENST00000281142.5 - 16 1863 c.1360C>T c.(1360-1362)Ctg>Ttg p.L454L SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000502495.1_5'UTR|SCLT1_ENST00000503215.1_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 454 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TCTGAAACCAGGAATCTTTGG 0.348000 6 18 0 0 0.001168 0 0 CA1 759 broad.mit.edu 37 8 86250493 86250493 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:86250493C>T ENST00000523953.1 - 4 1269 c.223G>A c.(223-225)Gat>Aat p.D75N CA1_ENST00000518341.1_5'UTR|CA1_ENST00000523022.1_Missense_Mutation_p.D75N|CA1_ENST00000522389.1_Intron|CA1_ENST00000256119.5_Missense_Mutation_p.D75N|CA1_ENST00000432364.2_Missense_Mutation_p.D75N|CA1_ENST00000542576.1_Missense_Mutation_p.D75N|CA1_ENST00000431316.1_Missense_Mutation_p.D75N P00915 CAH1_HUMAN carbonic anhydrase I 75 DN -> ND (in Ref. 4; AA sequence and 5; AA sequence). one-carbon metabolic process Golgi apparatus carbonate dehydratase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 13 all_lung(136;4.89e-06) Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909) GATCGGTTATCGTTGTCCTCA 0.398000 31 153 0 0 0.010818 0 0 OR5K1 26339 broad.mit.edu 37 3 98189104 98189104 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:98189104G>A ENST00000332650.5 + 1 781 c.684G>A c.(682-684)atG>atA p.M228I NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TTTTCAAAATGAAATCCAAAG 0.348000 5 48 0 0 0.000602 0 0 ITCH 83737 broad.mit.edu 37 20 33077189 33077189 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:33077189G>A ENST00000374864.4 + 21 2425 c.2212G>A c.(2212-2214)Gag>Aag p.E738K ITCH_ENST00000535650.1_Missense_Mutation_p.E628K|ITCH_ENST00000262650.6_Missense_Mutation_p.E779K NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 779 HECT. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity p.E738Q(1) NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 AAAGGAATTAGAGGTAATGAA 0.368000 7 73 0 0 0.003080 0 0 GRB14 2888 broad.mit.edu 37 2 165353901 165353901 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:165353901C>T ENST00000263915.3 - 10 1742 c.1204G>A c.(1204-1206)Gaa>Aaa p.E402K GRB14_ENST00000543549.1_Missense_Mutation_p.E315K NM_004490.2 NP_004481.2 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 402 blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 GCGAGTCCTTCTTCAACCGCA 0.403000 16 82 0 0 0.007413 0 0 ASPM 259266 broad.mit.edu 37 1 197074187 197074187 + Silent SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:197074187A>G ENST00000367409.4 - 18 4450 c.4194T>C c.(4192-4194)gtT>gtC p.V1398V ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1398 IQ 2. 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 TCTGAATTGTAACTGTAGCCC 0.299000 17 62 0 0 0.007413 0 0 TRIM15 89870 broad.mit.edu 37 6 30131610 30131610 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:30131610C>T ENST00000376694.4 + 1 618 c.149C>T c.(148-150)tCc>tTc p.S50F TRIM15_ENST00000376688.1_Missense_Mutation_p.S50F NM_033229.2 NP_150232.2 Q9C019 TRI15_HUMAN tripartite motif containing 15 50 mesodermal cell fate determination intracellular zinc ion binding large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1) 14 GGGGCCCAATCCTCGGGCAAG 0.672000 6 63 0 0 0.003080 0 0 COL3A1 1281 broad.mit.edu 37 2 189870087 189870087 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:189870087G>A ENST00000304636.3 + 41 3113 c.2943G>A c.(2941-2943)ggG>ggA p.G981G COL3A1_ENST00000317840.5_Intron NM_000090.3 NP_000081.1 P02461 CO3A1_HUMAN collagen, type III, alpha 1 981 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding p.G981G(1) NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 126 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GTGAAAGTGGGAAACCAGGAG 0.428000 20 84 0 0 0.002780 0 0 FANCI 55215 broad.mit.edu 37 15 89807213 89807213 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:89807213G>A ENST00000310775.7 + 8 711 c.625G>A c.(625-627)Gaa>Aaa p.E209K FANCI_ENST00000451393.2_Missense_Mutation_p.E30K|FANCI_ENST00000300027.8_Missense_Mutation_p.E209K|FANCI_ENST00000567996.1_Missense_Mutation_p.E209K NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 209 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) GAATCTTCAAGAAATACCACC 0.418000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 16 56 0 0 0.004990 0 0 SETD1A 9739 broad.mit.edu 37 16 30991855 30991855 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:30991855C>T ENST00000262519.8 + 15 5144 c.4458C>T c.(4456-4458)ccC>ccT p.P1486P NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1486 Interaction with ASH2L, RBBP5 and WDR5. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 AGGATGGGCCCCGGGAGCACC 0.642000 19 108 0 0 0.012319 0 0 HHIP 64399 broad.mit.edu 37 4 145628247 145628247 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:145628247C>T ENST00000296575.3 + 6 1647 c.992C>T c.(991-993)cCa>cTa p.P331L NM_022475.2 NP_071920.1 Q96QV1 HHIP_HUMAN hedgehog interacting protein 331 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) AGAAAAAATCCACACCAAGTT 0.383000 7 23 0 0 0.004482 0 0 GRM4 2914 broad.mit.edu 37 6 34101063 34101063 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:34101063T>C ENST00000374181.3 - 1 380 c.211A>G c.(211-213)Aag>Gag p.K71E GRM4_ENST00000538487.1_Missense_Mutation_p.K71E|GRM4_ENST00000374177.3_Intron NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 71 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) TTTTCCTTCTTAAGTTCTCCA 0.612000 6 52 0 0 0.001168 0 0 DNAH5 1767 broad.mit.edu 37 5 13721267 13721267 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:13721267G>A ENST00000265104.4 - 71 12225 c.12121C>T c.(12121-12123)Cca>Tca p.P4041S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4041 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GGCGTCCGTGGATCAGATTCC 0.483000 Kartagener syndrome 19 82 0 0 0.012319 0 0 TTC37 9652 broad.mit.edu 37 5 94852915 94852915 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:94852915G>A ENST00000358746.2 - 21 2524 c.2226C>T c.(2224-2226)gtC>gtT p.V742V NM_014639.3 NP_055454.1 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 742 binding breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 47 GACCTAGAAGGACTCCTAAAA 0.423000 5 30 0 0 0.001168 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72139246 72139246 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:72139246C>T ENST00000555818.1 + 9 3359 c.3011C>T c.(3010-3012)aCt>aTt p.T1004I SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1004I|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T479I|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1004I NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1004 PDZ. actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) GCGGTAGCCACTCTGAGCCAT 0.607000 16 36 0 0 0.003163 0 0 TINAG 27283 broad.mit.edu 37 6 54173382 54173382 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:54173382T>C ENST00000259782.4 + 1 130 c.34T>C c.(34-36)Tat>Cat p.Y12H TINAG_ENST00000370869.3_Intron|TINAG_ENST00000486436.1_Intron|TINAG_ENST00000370864.3_5'UTR NM_014464.3 NP_055279.3 Q9UJW2 TINAG_HUMAN tubulointerstitial nephritis antigen 12 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) AATCTTCTCTTATCTTACTAC 0.413000 10 48 0 0 0.006214 0 0 KIF4B 285643 broad.mit.edu 37 5 154394888 154394888 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:154394888C>T ENST00000435029.4 + 1 1629 c.1469C>T c.(1468-1470)aCt>aTt p.T490I NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 490 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCCATTGATACTGCGGTAGAA 0.448000 17 75 0 0 0.008871 0 0 SPHKAP 80309 broad.mit.edu 37 2 228886633 228886633 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:228886633C>T ENST00000392056.3 - 6 537 c.491G>A c.(490-492)aGa>aAa p.R164K SPHKAP_ENST00000344657.5_Missense_Mutation_p.R164K NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 164 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ACTGTTTGGTCTGTTCCCTCT 0.433000 7 24 0 0 0.001984 0 0 DUOXA1 90527 broad.mit.edu 37 15 45409845 45409845 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:45409845C>T ENST00000267803.4 - 11 1719 c.1320G>A c.(1318-1320)tcG>tcA p.S440S DUOXA1_ENST00000430224.2_Silent_p.S395S|DUOXA1_ENST00000558996.1_3'UTR|DUOXA2_ENST00000323030.5_Intron|DUOXA1_ENST00000559014.1_Silent_p.S440S NM_144565.2 NP_653166.2 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 0 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) ggccagagttcgagaccagcc 0.607000 5 26 0 0 0.000602 0 0 EPM2AIP1 9852 broad.mit.edu 37 3 37033538 37033538 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:37033538C>T ENST00000322716.5 - 1 1257 c.1031G>A c.(1030-1032)aGa>aAa p.R344K NM_014805.3 NP_055620.1 Q7L775 EPMIP_HUMAN EPM2A (laforin) interacting protein 1 344 endoplasmic reticulum breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2) 27 AGTTTTCCCTCTCCTAAGCCA 0.413000 44 141 0 0 0.010771 0 0 CENPE 1062 broad.mit.edu 37 4 104067143 104067143 + Missense_Mutation SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:104067143A>G ENST00000265148.3 - 30 4345 c.4256T>C c.(4255-4257)aTa>aCa p.I1419T CENPE_ENST00000380026.3_Missense_Mutation_p.I1394T NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 1419 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) TTCTATTTCTATCCTTAGTAG 0.368000 11 93 0 0 0.002450 0 0 CCNB3 85417 broad.mit.edu 37 X 50094333 50094333 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:50094333G>A ENST00000376042.1 + 12 4352 c.4054G>A c.(4054-4056)Gat>Aat p.D1352N CCNB3_ENST00000348603.2_Missense_Mutation_p.D248N|CCNB3_ENST00000276014.7_Missense_Mutation_p.D1352N|CCNB3_ENST00000376038.1_Missense_Mutation_p.D248N Q8WWL7 CCNB3_HUMAN cyclin B3 1352 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CAGTTCTTACGATAGTCTCAA 0.453000 36 61 0 0 0.003755 0 0 OR1F1 4992 broad.mit.edu 37 16 3255137 3255137 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:3255137G>A ENST00000304646.2 + 1 891 c.891G>A c.(889-891)ttG>ttA p.L297L AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 ACAGGTACTTGAAAGGGGCTC 0.423000 18 58 0 0 0.007413 0 0 LEPREL1 55214 broad.mit.edu 37 3 189705396 189705396 + Missense_Mutation SNP C C T rs115909080 by1000genomes TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:189705396C>T ENST00000319332.5 - 5 1215 c.1018G>A c.(1018-1020)Gag>Aag p.E340K LEPREL1_ENST00000427335.2_Missense_Mutation_p.E159K NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 340 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) AGGACATCCTCATCATCTGGA 0.463000 13 54 0 0 0.004007 0 0 LYZL4 131375 broad.mit.edu 37 3 42448470 42448470 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:42448470C>T ENST00000287748.3 - 3 435 c.160G>A c.(160-162)Gag>Aag p.E54K LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Missense_Mutation_p.E54K NM_144634.2 NP_653235.1 Q96KX0 LYZL4_HUMAN lysozyme-like 4 54 cell wall macromolecule catabolic process extracellular region lysozyme activity p.E54K(1) central_nervous_system(1)|endometrium(1)|lung(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.222) AACTTGCTCTCGAAGTAGGCC 0.572000 6 29 0 0 0.001984 0 0 VWA5A 4013 broad.mit.edu 37 11 124005635 124005635 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:124005635C>T ENST00000456829.2 + 12 1504 c.1253C>T c.(1252-1254)tCa>tTa p.S418L VWA5A_ENST00000392748.1_Missense_Mutation_p.S418L|VWA5A_ENST00000360334.4_Intron NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 418 VWFA. autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 AGGTGTTTCTCATTTGGTATT 0.408000 5 28 0 0 0.000602 0 0 MAP4 4134 broad.mit.edu 37 3 47896788 47896788 + Missense_Mutation SNP C C T rs148356137 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:47896788C>T ENST00000426837.2 - 19 6733 c.6646G>A c.(6646-6648)Gtg>Atg p.V2216M MAP4_ENST00000441748.2_Missense_Mutation_p.V185M|MAP4_ENST00000420772.2_Missense_Mutation_p.V764M|MAP4_ENST00000395734.3_Missense_Mutation_p.V1071M|MAP4_ENST00000383737.4_Missense_Mutation_p.V730M|MAP4_ENST00000360240.6_Missense_Mutation_p.V1071M|MAP4_ENST00000264724.11_Missense_Mutation_p.V806M P27816 MAP4_HUMAN microtubule-associated protein 4 1071 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) AGGGATCCCACCTTGGCCTGG 0.557000 21 111 0 0 0.004656 0 0 IFT172 26160 broad.mit.edu 37 2 27693920 27693920 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:27693920G>A ENST00000260570.3 - 16 1670 c.1567C>T c.(1567-1569)Ctc>Ttc p.L523F NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 523 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CAGAAGTTGAGGATCATTGTC 0.463000 6 41 0 0 0.001168 0 0 ZBBX 79740 broad.mit.edu 37 3 167083673 167083673 + Splice_Site SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:167083673C>T ENST00000392766.2 - 6 614 c.e6+1 ZBBX_ENST00000307529.5_Splice_Site|ZBBX_ENST00000392764.1_Splice_Site|ZBBX_ENST00000455345.2_Splice_Site|ZBBX_ENST00000392767.2_Splice_Site|ZBBX_ENST00000469220.1_Intron NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 TATCTTCTTACCTTAACAACA 0.303000 9 26 0 0 0.006214 0 0 NMRK2 27231 broad.mit.edu 37 19 3941164 3941164 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:3941164G>A ENST00000168977.2 + 7 781 c.491G>A c.(490-492)gGt>gAt p.G164D NMRK2_ENST00000593949.1_Missense_Mutation_p.G169D|NMRK2_ENST00000599576.1_Intron NM_170678.2 NP_733778.1 nicotinamide riboside kinase 2 GAGGCCAACGGTGTGGAAGTG 0.602000 28 114 0 0 0.006320 0 0 FAM220A 84792 broad.mit.edu 37 7 6370657 6370657 + Silent SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:6370657T>C ENST00000313324.4 - 2 596 c.129A>G c.(127-129)gcA>gcG p.A43A NM_001037163.1 NP_001032240.1 Q7Z4H9 SIPAR_HUMAN family with sequence similarity 220, member A 43 nucleus TCCAGGAGGGTGCATCTGCAG 0.547000 13 67 0 0 0.002450 0 0 USP9Y 8287 broad.mit.edu 37 Y 14838532 14838532 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrY:14838532C>T ENST00000338981.3 + 7 1408 c.463C>T c.(463-465)Cgc>Tgc p.R155C USP9Y_ENST00000426564.2_3'UTR NM_004654.3 NP_004645.2 O00507 USP9Y_HUMAN ubiquitin specific peptidase 9, Y-linked 155 BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 CAATACTCATCGCCTAGTGGA 0.348000 13 21 0 0 0.002450 0 0 BPTF 2186 broad.mit.edu 37 17 65850295 65850295 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:65850295G>A ENST00000321892.4 + 2 914 c.853G>A c.(853-855)Gag>Aag p.E285K BPTF_ENST00000335221.5_Missense_Mutation_p.E285K|BPTF_ENST00000424123.3_Missense_Mutation_p.E146K|BPTF_ENST00000306378.6_Missense_Mutation_p.E285K Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 285 DDT. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) ACTCATGGCAGAGATGCATGT 0.458000 24 89 0 0 0.014323 0 0 PROSC 11212 broad.mit.edu 37 8 37633494 37633494 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:37633494T>C ENST00000328195.3 + 7 723 c.656T>C c.(655-657)gTt>gCt p.V219A NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog (bacterial) 219 pyridoxal phosphate binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1) 7 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) GCTGACCAGGTTGAGCTGAGC 0.567000 22 121 0 0 0.003330 0 0 TTN 7273 broad.mit.edu 37 2 179615579 179615579 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:179615579C>T ENST00000360870.5 - 46 11770 c.11548G>A c.(11548-11550)Gag>Aag p.E3850K TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9685 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) GTGGATGACTCTCCAATTGTA 0.373000 8 84 0 0 0.003080 0 0 PRIM2 5558 broad.mit.edu 37 6 57398263 57398263 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:57398263G>A ENST00000607273.1 + 10 1053 c.966G>A c.(964-966)caG>caA p.Q322Q PRIM2_ENST00000389488.2_3'UTR NM_000947.2 NP_000938.2 P49643 PRI2_HUMAN primase, DNA, polypeptide 2 (58kDa) 322 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1) 59 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) CTTTGGAACAGACATTGCAGT 0.368000 6 167 0 0 0.004482 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077196 19077196 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:19077196C>T ENST00000329773.2 - 2 841 c.754G>A c.(754-756)Gat>Aat p.D252N NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 252 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 ACATCAGAATCCTTCCAGATC 0.473000 6 55 0 0 0.003080 0 0 HYAL4 23553 broad.mit.edu 37 7 123517036 123517036 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:123517036G>A ENST00000223026.4 + 5 1911 c.1273G>A c.(1273-1275)Gac>Aac p.D425N HYAL4_ENST00000476325.1_Missense_Mutation_p.D425N NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 425 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 ATCTGATACAGACCTGGCAGT 0.488000 12 91 0 0 0.013537 0 0 FAM135B 51059 broad.mit.edu 37 8 139164014 139164014 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:139164014C>T ENST00000395297.1 - 13 2874 c.2704G>A c.(2704-2706)Gaa>Aaa p.E902K NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 902 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) TTTGGGGTTTCCTCAAGTGCT 0.473000 HNSCC(54;0.14) 22 82 0 0 0.003954 0 0 NLRP8 126205 broad.mit.edu 37 19 56465910 56465910 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:56465910C>T ENST00000291971.3 + 3 557 c.486C>T c.(484-486)ttC>ttT p.F162F NLRP8_ENST00000590542.1_Silent_p.F162F NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 162 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) AAAAGTTTTTCCCCATATGGG 0.443000 9 53 0 0 0.008291 0 0 PALLD 23022 broad.mit.edu 37 4 169433032 169433032 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:169433032C>T ENST00000261509.6 + 2 588 c.377C>T c.(376-378)cCc>cTc p.P126L PALLD_ENST00000505667.1_Missense_Mutation_p.P126L|PALLD_ENST00000333488.4_Missense_Mutation_p.P3L|PALLD_ENST00000335742.7_5'UTR NM_001166108.1|NM_016081.3 NP_001159580.1|NP_057165.3 Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 126 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) GCCATGTCACCCCTGCTCACC 0.512000 Pancreatic Cancer, Familial Clustering of 8 49 0 0 0.004482 0 0 UBIAD1 29914 broad.mit.edu 37 1 11345724 11345724 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:11345724C>T ENST00000376810.5 + 2 879 c.553C>T c.(553-555)Ctg>Ttg p.L185L UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 185 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) GTACGTGGCTCTGGGAGACCT 0.547000 9 42 0 0 0.006214 0 0 DEFA4 1669 broad.mit.edu 37 8 6794277 6794277 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:6794277C>T ENST00000297435.2 - 2 269 c.145G>A c.(145-147)Gat>Aat p.D49N NM_001925.1 NP_001916.1 P12838 DEF4_HUMAN defensin, alpha 4, corticostatin 49 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 10 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GAGCTTTTATCCCATGCAAAG 0.547000 13 63 0 0 0.002450 0 0 MAGI1 9223 broad.mit.edu 37 3 65415693 65415693 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:65415693G>A ENST00000330909.8 - 12 1668 c.1669C>T c.(1669-1671)Cca>Tca p.P557S MAGI1_ENST00000497477.2_Missense_Mutation_p.P557S|MAGI1_ENST00000483466.1_Missense_Mutation_p.P557S|MAGI1_ENST00000402939.2_Missense_Mutation_p.P557S NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 557 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) AAAGGCAATGGATAACCTCGG 0.463000 9 50 0 0 0.006214 0 0 SH3GL2 6456 broad.mit.edu 37 9 17787503 17787503 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:17787503G>A ENST00000380607.4 + 5 577 c.457G>A c.(457-459)Gaa>Aaa p.E153K SH3GL2_ENST00000537391.1_Missense_Mutation_p.E106K NM_003026.2 NP_003017.1 Q99962 SH3G2_HUMAN SH3-domain GRB2-like 2 153 BAR. axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport cytosol|Golgi membrane|plasma membrane identical protein binding|lipid binding NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203) AGATCTTAGGGAAATTCAAGT 0.403000 6 39 0 0 0.001168 0 0 OR2Z1 284383 broad.mit.edu 37 19 8841889 8841889 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:8841889C>T ENST00000324060.2 + 1 574 c.499C>T c.(499-501)Ccc>Tcc p.P167S NM_001004699.1 NP_001004699.1 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, member 1 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCTGCATTTTCCCTACTGTGC 0.552000 31 128 0 0 0.004878 0 0 MARCH10 162333 broad.mit.edu 37 17 60814083 60814083 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:60814083C>T ENST00000544856.2 - 7 1521 c.1143G>A c.(1141-1143)agG>agA p.R381R RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000456609.2_Silent_p.R382R|MARCH10_ENST00000583600.1_Silent_p.R420R|MARCH10_ENST00000311269.5_Silent_p.R382R|RP11-156L14.1_ENST00000582564.1_RNA Q8NA82 MARHA_HUMAN membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase 382 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TAGCAGATTCCCTATCAGGCA 0.537000 24 78 0 0 0.003330 0 0 CHGA 1113 broad.mit.edu 37 14 93398956 93398956 + Missense_Mutation SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:93398956G>T ENST00000216492.5 + 7 1330 c.1050G>T c.(1048-1050)aaG>aaT p.K350N CHGA_ENST00000334654.4_Missense_Mutation_p.K199N NM_001275.3 NP_001266.1 P10645 CMGA_HUMAN chromogranin A (parathyroid secretory protein 1) 350 regulation of blood pressure extracellular region|stored secretory granule cervix(1)|large_intestine(1)|lung(3)|skin(3) 8 all_cancers(154;0.0843) Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224) AGCTGGCCAAGGAGCTGACGG 0.652000 3 10 1.23904e-05 1.2826e-05 0.000602 1 0 KIAA0100 9703 broad.mit.edu 37 17 26955507 26955507 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:26955507G>A ENST00000528896.2 - 24 4444 c.4370C>T c.(4369-4371)tCc>tTc p.S1457F KIAA0100_ENST00000389003.3_Missense_Mutation_p.S1314F|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S1314F NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 1457 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) AGTTGTCCAGGAAATCCGTAA 0.458000 19 68 0 0 0.008871 0 0 ETV6 2120 broad.mit.edu 37 12 12022746 12022746 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:12022746C>T ENST00000396373.4 + 5 1126 c.852C>T c.(850-852)tcC>tcT p.S284S NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 284 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCCGGCACTCCGTGGATTTCA 0.612000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 10 53 0 0 0.008291 0 0 OSMR 9180 broad.mit.edu 37 5 38881746 38881746 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:38881746G>A ENST00000274276.3 + 4 700 c.298G>A c.(298-300)Gaa>Aaa p.E100K OSMR_ENST00000502536.1_Missense_Mutation_p.E100K NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor 100 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) TTGGAGCTGGGAATCTGAGCT 0.458000 15 81 0 0 0.003163 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133930700 133930700 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:133930700G>A ENST00000298622.4 + 2 393 c.255G>A c.(253-255)aaG>aaA p.K85K NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGAAGATGAAGGAGCTACAGG 0.592000 8 43 0 0 0.003080 0 0 OR10X1 128367 broad.mit.edu 37 1 158549138 158549138 + Silent SNP G G A rs139262126 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:158549138G>A ENST00000368150.1 - 1 551 c.552C>T c.(550-552)ttC>ttT p.F184F NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 184 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) TGGGTCTGCAGAAAGAGTCCC 0.428000 9 32 0 0 0.008291 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857498 9857498 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:9857498C>T ENST00000396573.2 - 14 4212 c.3903G>A c.(3901-3903)gaG>gaA p.E1301E GRIN2A_ENST00000330684.3_Silent_p.E1301E|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000396575.2_Silent_p.E1301E|GRIN2A_ENST00000562109.1_Intron NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1301 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TAAGGTCTAGCTCCCTAGGTT 0.502000 12 99 0 0 0.001855 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 4 45 0 0 0.009096 0 0 GHR 2690 broad.mit.edu 37 5 42719299 42719299 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:42719299G>A ENST00000230882.4 + 10 1880 c.1690G>A c.(1690-1692)Gac>Aac p.D564N GHR_ENST00000537449.1_Missense_Mutation_p.D377N|GHR_ENST00000357703.3_Missense_Mutation_p.D542N NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2 NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1 P10912 GHR_HUMAN growth hormone receptor 564 2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) AAACCAAGAGGACATTTACAT 0.502000 3 19 0 0 0.004672 0 0 PPEF1 5475 broad.mit.edu 37 X 18748339 18748339 + Silent SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:18748339T>C ENST00000361511.4 + 5 581 c.87T>C c.(85-87)ggT>ggC p.G29G PPEF1_ENST00000359763.6_Silent_p.G29G|PPEF1_ENST00000349874.5_Silent_p.G29G|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000544635.1_Intron|PPEF1_ENST00000543630.1_Silent_p.G29G NM_006240.2|NM_152224.1 NP_006231.2|NP_689410.1 O14829 PPE1_HUMAN protein phosphatase, EF-hand calcium binding domain 1 29 IQ. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) GGTACCGAGGTTACAAAGCTC 0.463000 16 29 0 0 0.003163 0 0 RP1 6101 broad.mit.edu 37 8 55540511 55540511 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:55540511G>A ENST00000220676.1 + 4 4217 c.4069G>A c.(4069-4071)Gat>Aat p.D1357N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1357 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) TGATAACTTGGATTCAACTGA 0.353000 7 40 0 0 0.006214 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092868 151092868 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:151092868G>A ENST00000360243.2 + 3 999 c.732G>A c.(730-732)agG>agA p.R244R MAGEA4_ENST00000393920.1_Silent_p.R244R|MAGEA4_ENST00000393921.1_Silent_p.R244R|MAGEA4_ENST00000370335.1_Silent_p.R244R|MAGEA4_ENST00000370337.4_Silent_p.R244R|MAGEA4_ENST00000370340.3_Silent_p.R244R|MAGEA4_ENST00000276344.2_Silent_p.R244R NM_001011550.1 NP_001011550.1 P43358 MAGA4_HUMAN melanoma antigen family A, 4 244 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) GGGAGCCCAGGAAACTGCTCA 0.592000 21 57 0 0 0.010504 0 0 ZDHHC11 79844 broad.mit.edu 37 5 843743 843743 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:843743C>T ENST00000283441.8 - 4 983 c.600G>A c.(598-600)ggG>ggA p.G200G ZDHHC11_ENST00000511539.1_5'UTR|ZDHHC11_ENST00000424784.2_Silent_p.G200G NM_024786.2 NP_079062.1 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 200 integral to membrane acyltransferase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1) 21 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) TGCGGAGCACCCCGGGGTTCA 0.632000 13 131 0 0 0.002450 0 0 CRTC1 23373 broad.mit.edu 37 19 18853784 18853784 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:18853784C>T ENST00000338797.6 + 2 216 c.191C>T c.(190-192)tCc>tTc p.S64F CRTC1_ENST00000594658.1_Missense_Mutation_p.S23F|CRTC1_ENST00000321949.8_Missense_Mutation_p.S64F|CRTC1_ENST00000601916.1_5'UTR NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 64 interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 TATGGCGGGTCCCTGCCCAAC 0.667000 12 34 0 0 0.002450 0 0 TAF6 6878 broad.mit.edu 37 7 99708909 99708909 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:99708909G>A ENST00000344095.4 - 10 1461 c.936C>T c.(934-936)atC>atT p.I312I TAF6_ENST00000437822.2_Silent_p.I349I|TAF6_ENST00000452041.1_Silent_p.I312I|TAF6_ENST00000453269.2_Silent_p.I312I|TAF6_ENST00000418432.2_Silent_p.I236I|TAF6_ENST00000472509.1_Silent_p.I369I NM_005641.3 NP_005632.1 P49848 TAF6_HUMAN TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa 312 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTCTGCTCACGATGCAGGTCA 0.527000 30 54 0 0 0.008361 0 0 RSPH9 221421 broad.mit.edu 37 6 43612929 43612929 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:43612929C>T ENST00000372165.4 + 1 147 c.94C>T c.(94-96)Ctt>Ttt p.L32F RSPH9_ENST00000372163.4_Missense_Mutation_p.L32F NM_001193341.1 NP_001180270.1 Q9H1X1 RSPH9_HUMAN radial spoke head 9 homolog (Chlamydomonas) 32 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 GCTCACGTCTCTTATGCTGGT 0.642000 Kartagener syndrome 21 73 0 0 0.002780 0 0 NLE1 54475 broad.mit.edu 37 17 33464057 33464057 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:33464057G>A ENST00000442241.4 - 7 830 c.791C>T c.(790-792)tCc>tTc p.S264F NLE1_ENST00000360831.5_Missense_Mutation_p.S222F|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR NM_001014445.1|NM_018096.3 NP_001014445.1|NP_060566.2 Q9NVX2 NLE1_HUMAN notchless homolog 1 (Drosophila) 264 nucleolus NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 22 Ovarian(249;0.17) GCGGTCCTGGGAGGCAGAGTA 0.597000 15 101 0 0 0.012319 0 0 CCDC27 148870 broad.mit.edu 37 1 3673352 3673352 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:3673352G>A ENST00000294600.2 + 4 693 c.609G>A c.(607-609)agG>agA p.R203R NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 203 breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) TGCGGAAGAGGAGAAAATCCC 0.547000 15 89 0 0 0.003163 0 0 SP140 11262 broad.mit.edu 37 2 231174672 231174672 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:231174672G>A ENST00000392045.3 + 23 2206 c.2092G>A c.(2092-2094)Gac>Aac p.D698N SP140_ENST00000417495.3_Missense_Mutation_p.D584N|SP140_ENST00000350136.5_Missense_Mutation_p.D567N|SP140_ENST00000420434.3_Missense_Mutation_p.D671N|SP140_ENST00000486687.2_Missense_Mutation_p.D622N|SP140_ENST00000343805.6_Missense_Mutation_p.D638N NM_007237.4 NP_009168.4 Q13342 LY10_HUMAN SP140 nuclear body protein 698 defense response cytoplasm|nuclear envelope|nucleolus|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GGTGTGCCGGGACGGAGGGGA 0.542000 20 116 0 0 0.003330 0 0 TC2N 123036 broad.mit.edu 37 14 92264212 92264212 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:92264212C>T ENST00000435962.2 - 8 1095 c.772G>A c.(772-774)Gac>Aac p.D258N TC2N_ENST00000556018.1_Missense_Mutation_p.D258N|TC2N_ENST00000340892.5_Missense_Mutation_p.D258N|TC2N_ENST00000360594.5_Missense_Mutation_p.D258N NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 258 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) GTAGGAGTGTCTCCATAACTA 0.343000 13 57 0 0 0.001855 0 0 CAPN10 11132 broad.mit.edu 37 2 241534660 241534660 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:241534660C>T ENST00000391984.2 + 7 1413 c.1217C>T c.(1216-1218)tCg>tTg p.S406L CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000391982.2_Missense_Mutation_p.S406L|CAPN10_ENST00000404753.3_Missense_Mutation_p.S406L|CAPN10_ENST00000354082.4_Missense_Mutation_p.S406L|CAPN10_ENST00000352879.4_Intron NM_023083.3 NP_075571.1 Q9HC96 CAN10_HUMAN calpain 10 406 Domain III 1. actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis cytosol|plasma membrane calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1) 27 all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032) AGTCATACTTCGTGGAGCCCA 0.652000 11 44 0 0 0.013537 0 0 GCNT1 2650 broad.mit.edu 37 9 79117943 79117943 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:79117943C>T ENST00000442371.1 + 3 1585 c.646C>T c.(646-648)Ctt>Ttt p.L216F GCNT1_ENST00000376730.4_Missense_Mutation_p.L216F|GCNT1_ENST00000444201.2_Missense_Mutation_p.L216F|GCNT1_ENST00000536223.1_Missense_Mutation_p.L216F NM_001097634.1 NP_001091103.1 Q02742 GCNT1_HUMAN glucosaminyl (N-acetyl) transferase 1, core 2 216 Catalytic (By similarity). protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1) 30 CTTGATAAATCTTTGTGGTAT 0.443000 15 39 0 0 0.002450 0 0 NPFFR2 10886 broad.mit.edu 37 4 73013347 73013347 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:73013347G>A ENST00000308744.6 + 4 1485 c.1387G>A c.(1387-1389)Gaa>Aaa p.E463K NPFFR2_ENST00000395999.1_Missense_Mutation_p.E364K|NPFFR2_ENST00000358749.3_Missense_Mutation_p.E361K|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000344413.5_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 463 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) AAAGCCTATGGAAGCTTATGC 0.433000 19 74 0 0 0.007413 0 0 PKDCC 91461 broad.mit.edu 37 2 42280439 42280439 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:42280439G>A ENST00000294964.5 + 2 880 c.700G>A c.(700-702)Gag>Aag p.E234K NM_138370.2 NP_612379.2 Q504Y2 PKDCC_HUMAN protein kinase domain containing, cytoplasmic 234 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(2)|kidney(1)|lung(5) 8 CACCATCACGGAGCTGGGCGC 0.612000 17 115 0 0 0.006122 0 0 PTPRC 5788 broad.mit.edu 37 1 198711437 198711437 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:198711437G>A ENST00000367376.2 + 25 2803 c.2632G>A c.(2632-2634)Gat>Aat p.D878N PTPRC_ENST00000352140.3_Missense_Mutation_p.D830N|PTPRC_ENST00000348564.6_Missense_Mutation_p.D719N|PTPRC_ENST00000442510.2_Missense_Mutation_p.D880N|PTPRC_ENST00000594404.1_Missense_Mutation_p.D717N NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 878 Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 GAACAAAGTGGATGTTTATGG 0.438000 23 92 0 0 0.012319 0 0 SLC38A10 124565 broad.mit.edu 37 17 79249826 79249826 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:79249826G>A ENST00000374759.3 - 8 1238 c.855C>T c.(853-855)ttC>ttT p.F285F SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Silent_p.F285F NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 285 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TCATCATGGGGAAGCCCACAG 0.612000 16 62 0 0 0.004007 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711814 155711814 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:155711814C>T ENST00000295101.2 + 3 1972 c.1495C>T c.(1495-1497)Cgc>Tgc p.R499C NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 499 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.R499G(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) GAACTCTGATCGCTTCACATA 0.408000 5 17 0 0 0.000602 0 0 RP11-50E11.3 0 broad.mit.edu 37 10 52389901 52389901 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:52389901C>T ENST00000443374.1 + 0 594 GGGTCGTTTTCCTGAAAAATT 0.408000 5 11 0 0 0.001168 0 0 ITPR3 3710 broad.mit.edu 37 6 33636832 33636832 + Missense_Mutation SNP G G C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:33636832G>C ENST00000374316.5 + 19 3148 c.2088G>C c.(2086-2088)tgG>tgC p.W696C ITPR3_ENST00000605930.1_Missense_Mutation_p.W696C Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 696 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GGCTCACGTGGACTGACAAGA 0.587000 21 112 0 0 0.002780 0 0 KLK8 11202 broad.mit.edu 37 19 51503822 51503822 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:51503822C>T ENST00000600767.1 - 4 577 c.88G>A c.(88-90)Gag>Aag p.E30K KLK9_ENST00000376832.4_3'UTR|KLK9_ENST00000250366.6_3'UTR|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000391806.2_Missense_Mutation_p.E75K|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000593490.1_Intron|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_Missense_Mutation_p.E30K O60259 KLK8_HUMAN kallikrein-related peptidase 8 30 cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) ACCTTGTCCTCCTGTGCCCTG 0.632000 6 58 0 0 0.001168 0 0 ARHGAP25 9938 broad.mit.edu 37 2 68962338 68962338 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:68962338C>T ENST00000295381.3 + 1 426 c.7C>T c.(7-9)Cta>Tta p.L3L ARHGAP25_ENST00000409202.3_Silent_p.L3L|ARHGAP25_ENST00000467265.1_Silent_p.L3L|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000544262.1_Intron NM_001007231.2 NP_001007232.2 P42331 RHG25_HUMAN Rho GTPase activating protein 25 3 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 52 CAAAATGTCCCTAAAATTGCC 0.433000 12 75 0 0 0.010729 0 0 ABCG8 64241 broad.mit.edu 37 2 44079912 44079912 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:44079912C>T ENST00000272286.2 + 6 959 c.869C>T c.(868-870)aCc>aTc p.T290I NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 290 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity p.T290N(1) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACGTCTGGCACCCCCATCTAC 0.582000 70 393 0 0 0.014410 0 0 C3P1 388503 broad.mit.edu 37 19 10157494 10157494 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:10157494C>T ENST00000495140.1 + 0 1093 endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1) 13 GGAGGAAGTTCACTCTGCCAA 0.527000 17 64 0 0 0.012319 0 0 PCDHAC1 56135 broad.mit.edu 37 5 140307642 140307642 + Missense_Mutation SNP G G A rs150006101 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:140307642G>A ENST00000253807.2 + 1 1165 c.1165G>A c.(1165-1167)Gct>Act p.A389T PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A389T|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018898.3 NP_061721.2 NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 65 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGCTGACGGCTTCCTTTGA 0.507000 9 44 0 0 0.010729 0 0 CHCHD5 84269 broad.mit.edu 37 2 113343995 113343995 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:113343995C>T ENST00000409719.1 + 3 415 c.362C>T c.(361-363)tCc>tTc p.S121F CHCHD5_ENST00000324913.5_Intron Q9BSY4 CHCH5_HUMAN coiled-coil-helix-coiled-coil-helix domain containing 5 0 NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1) 7 TCCCcttcatccttctggttg 0.537000 4 12 0 0 0.009096 0 0 TAAR5 9038 broad.mit.edu 37 6 132910326 132910326 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:132910326G>A ENST00000258034.2 - 1 551 c.500C>T c.(499-501)tCg>tTg p.S167L NM_003967.2 NP_003958.2 O14804 TAAR5_HUMAN trace amine associated receptor 5 167 synaptic transmission integral to plasma membrane G-protein coupled receptor activity p.S167*(1) breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 32 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) GAGGAATAACGAAGTGTATGC 0.547000 25 69 0 0 0.004656 0 0 SLC22A10 387775 broad.mit.edu 37 11 63057858 63057858 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:63057858G>A ENST00000332793.6 + 1 223 c.221G>A c.(220-222)aGa>aAa p.R74K SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000544661.1_5'UTR|SLC22A10_ENST00000526800.1_Missense_Mutation_p.R22K|SLC22A10_ENST00000525620.1_Intron NM_001039752.3 NP_001034841.3 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 74 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GCCCTCTTGAGAATCTCTATC 0.502000 9 79 0 0 0.006214 0 0 KRT3 3850 broad.mit.edu 37 12 53189556 53189556 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:53189556C>T ENST00000417996.2 - 1 345 c.271G>A c.(271-273)Ggt>Agt p.G91S KRT3_ENST00000309505.3_Missense_Mutation_p.G91S NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 91 Gly-rich.|Head. 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 ccatagccacctgcaaagGCA 0.637000 14 80 0 0 0.001855 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39171438 39171438 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:39171438G>A ENST00000297668.6 - 8 1334 c.1261C>T c.(1261-1263)Ctc>Ttc p.L421F CNTNAP3_ENST00000358144.2_Missense_Mutation_p.L333F|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.L421F|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.L421F|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.L421F NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 421 Laminin G-like 2. 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) TTAAGAAAGAGGACGAAACTC 0.483000 15 84 0 0 0.002450 0 0 PLXDC2 84898 broad.mit.edu 37 10 20506496 20506496 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:20506496C>T ENST00000377252.3 + 11 2105 c.1264C>T c.(1264-1266)Cct>Tct p.P422S PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.P373S NM_032812.7 NP_116201.7 Q6UX71 PXDC2_HUMAN plexin domain containing 2 422 Thr-rich. integral to membrane breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1) 34 CACCAGCCTCCCTACAGAAGG 0.428000 11 22 0 0 0.013537 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665951 19665951 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:19665951G>A ENST00000328041.6 + 12 1467 c.1270G>A c.(1270-1272)Gaa>Aaa p.E424K NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 424 Poly-Glu. integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 tgatgaggaggaagaggagga 0.532000 10 56 0 0 0.010729 0 0 AKAP3 10566 broad.mit.edu 37 12 4737612 4737612 + Missense_Mutation SNP G G C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:4737612G>C ENST00000545990.2 - 5 980 c.456C>G c.(454-456)aaC>aaG p.N152K AKAP3_ENST00000228850.1_Missense_Mutation_p.N152K NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 152 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 AGACACATTTGTTTTCAGAGC 0.453000 31 120 0 0 0.005524 0 0 ATP13A4 84239 broad.mit.edu 37 3 193180552 193180552 + Splice_Site SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:193180552C>T ENST00000342695.4 - 13 1844 c.1523_splice c.e13+1 p.G508_splice ATP13A4_ENST00000392443.3_Splice_Site_p.G489_splice|ATP13A4_ENST00000295548.3_Splice_Site_p.G508_splice NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 508 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) GGTACTCACCCATTCCTATCA 0.428000 8 59 0 0 0.008291 0 0 PDE3A 5139 broad.mit.edu 37 12 20833104 20833104 + Nonsense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:20833104C>T ENST00000359062.3 + 16 3365 c.3325C>T c.(3325-3327)Cag>Tag p.Q1109* PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 1109 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) CCAGACCCCTCAGTCGCACTC 0.488000 13 50 0 0 0.013537 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90500082 90500082 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:90500082C>T ENST00000325643.5 + 4 746 c.680C>T c.(679-681)cCc>cTc p.P227L NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 CCACCAGAGCCCTTGCTTCCC 0.627000 41 130 0 0 0.011902 0 0 TNFRSF8 943 broad.mit.edu 37 1 12202505 12202505 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:12202505C>T ENST00000263932.2 + 15 1927 c.1705C>T c.(1705-1707)Ctg>Ttg p.L569L TNFRSF8_ENST00000479933.2_3'UTR|TNFRSF8_ENST00000417814.2_Silent_p.L457L|TNFRSF8_ENST00000413146.2_Silent_p.L106L NM_001243.3 NP_001234.2 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, member 8 569 cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) AGAACCGCCTCTGGGCAGCTG 0.667000 8 21 0 0 0.006214 0 0 CCDC157 550631 broad.mit.edu 37 22 30772336 30772336 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:30772336G>A ENST00000405659.1 + 11 2655 c.1946_splice c.e11+1 p.G649_splice CCDC157_ENST00000338306.3_Splice_Site_p.G649_splice|RP1-130H16.16_ENST00000332468.4_RNA Q569K6 CC157_HUMAN coiled-coil domain containing 157 649 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 ACATCCCCAGGGTGAGTGAGG 0.577000 13 43 0 0 0.002450 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439612 145439612 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:145439612C>T ENST00000511217.1 + 8 1791 c.1739C>T c.(1738-1740)cCc>cTc p.P580L SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.P580L Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 580 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) ACGGGGGAGCCCGCCCTCACG 0.632000 8 39 0 0 0.004482 0 0 TP63 8626 broad.mit.edu 37 3 189608638 189608638 + Silent SNP C C A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:189608638C>A ENST00000264731.3 + 13 1802 c.1713C>A c.(1711-1713)acC>acA p.T571T TP63_ENST00000320472.5_Intron|TP63_ENST00000392461.3_Intron|TP63_ENST00000440651.2_Silent_p.T567T|TP63_ENST00000392463.2_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000354600.5_Silent_p.T477T|TP63_ENST00000456148.1_Silent_p.T473T|TP63_ENST00000449992.1_Silent_p.T392T|TP63_ENST00000382063.4_Silent_p.T486T NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 571 SAM. 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.T571T(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) AGGGGCTGACCACCATCTATC 0.438000 HNSCC(45;0.13) 4 65 0.00909568 0.00935152 0.009096 1 0 B3GALT5 10317 broad.mit.edu 37 21 41032912 41032912 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr21:41032912C>T ENST00000380620.3 + 5 1018 c.426C>T c.(424-426)gtC>gtT p.V142V AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000343118.4_Silent_p.V142V|B3GALT5_ENST00000380618.1_Silent_p.V142V|B3GALT5_ENST00000398714.2_Silent_p.V142V Q9Y2C3 B3GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 142 protein glycosylation endoplasmic reticulum|Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 16 Prostate(19;2.55e-06) TAGAATGGGTCCATCGCTTTT 0.463000 10 93 0 0 0.010729 0 0 PLXNB1 5364 broad.mit.edu 37 3 48454245 48454245 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:48454245C>T ENST00000358536.4 - 25 5029 c.4760G>A c.(4759-4761)cGg>cAg p.R1587Q PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1404Q|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1404Q|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1587Q|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R198Q NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1587 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACCCAGGTCCCGGTGCAAGGG 0.627000 7 39 0 0 0.003080 0 0 KCNH1 3756 broad.mit.edu 37 1 211276866 211276866 + Silent SNP G G A rs138645753 byFrequency TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:211276866G>A ENST00000367007.4 - 3 451 c.282C>T c.(280-282)tcC>tcT p.S94S KCNH1_ENST00000271751.4_Silent_p.S94S NM_002238.3|NM_172362.2 NP_002229.1|NP_758872.1 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 1 94 PAC.|PAS. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) GAATTTCAAAGGAATTCATCT 0.358000 9 32 0 0 0.004482 0 0 SREBF1 6720 broad.mit.edu 37 17 17720736 17720736 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:17720736C>T ENST00000355815.4 - 9 1699 c.1530G>A c.(1528-1530)cgG>cgA p.R510R SREBF1_ENST00000395757.1_Silent_p.R226R|SREBF1_ENST00000261646.5_Silent_p.R480R|SREBF1_ENST00000338854.5_Silent_p.R480R NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 480 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 CCAGCATGCCCCGGCTGTGCA 0.697000 5 16 0 0 0.001168 0 0 GPR115 221393 broad.mit.edu 37 6 47682046 47682046 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:47682046G>A ENST00000283303.2 + 6 1323 c.1065G>A c.(1063-1065)aaG>aaA p.K355K GPR115_ENST00000327753.3_Silent_p.K355K|GPR115_ENST00000371220.1_Silent_p.K412K NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 355 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GGCACTCCAAGAAAAGGAGAT 0.453000 11 73 0 0 0.008291 0 0 GPR25 2848 broad.mit.edu 37 1 200843206 200843206 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:200843206C>T ENST00000304244.2 + 1 1124 c.1041C>T c.(1039-1041)ttC>ttT p.F347F NM_005298.2 NP_005289.2 O00155 GPR25_HUMAN G protein-coupled receptor 25 347 integral to plasma membrane large_intestine(1)|lung(2)|ovary(1)|skin(1) 5 GTTCCGTGTTCCGTTGCCGGG 0.741000 4 10 0 0 0.009096 0 0 CDH5 1003 broad.mit.edu 37 16 66436825 66436825 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:66436825G>A ENST00000341529.3 + 12 2256 c.2108G>A c.(2107-2109)gGg>gAg p.G703E CDH5_ENST00000539168.1_Missense_Mutation_p.G142E NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 703 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GGAGGGCCCGGGGAGATGGCA 0.721000 17 29 0 0 0.010504 0 0 IQGAP2 10788 broad.mit.edu 37 5 75757427 75757427 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:75757427G>A ENST00000274364.6 + 2 376 c.79G>A c.(79-81)Gag>Aag p.E27K IQGAP2_ENST00000379730.3_5'UTR NM_006633.2 NP_006624.2 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 27 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) CTCTGCAGAGGAGATGGATGA 0.418000 10 49 0 0 0.008291 0 0 IGSF22 283284 broad.mit.edu 37 11 18732255 18732255 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:18732255C>T ENST00000513874.1 - 16 2658 c.2519G>A c.(2518-2520)cGa>cAa p.R840Q RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 838 Fibronectin type-III 2. NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TTTCTTCCTTCGTTCTACAAT 0.567000 10 46 0 0 0.006214 0 0 CD53 963 broad.mit.edu 37 1 111439353 111439353 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:111439353G>A ENST00000271324.5 + 6 614 c.502G>A c.(502-504)Gag>Aag p.E168K CD53_ENST00000429072.2_Intron|CD53_ENST00000497404.1_Intron NM_000560.3|NM_001040033.1 NP_000551.1|NP_001035122.1 P19397 CD53_HUMAN CD53 molecule 168 signal transduction integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) TCGAAAAGTGGAGGTAATTTT 0.438000 12 79 0 0 0.010729 0 0 TAGAP 117289 broad.mit.edu 37 6 159457419 159457419 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:159457419C>T ENST00000367066.3 - 10 1967 c.1636G>A c.(1636-1638)Gaa>Aaa p.E546K RP1-111C20.4_ENST00000606470.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.E368K|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA NM_054114.3 NP_473455.2 Q8N103 TAGAP_HUMAN T-cell activation RhoGTPase activating protein 546 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) AGCTGGCTTTCCTTTCTGACA 0.582000 9 129 0 0 0.004482 0 0 TSEN34 79042 broad.mit.edu 37 19 54696217 54696217 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:54696217C>T ENST00000396383.1 + 4 1049 c.738C>T c.(736-738)gtC>gtT p.V246V TSEN34_ENST00000302937.4_Silent_p.V246V|TSEN34_ENST00000429671.2_Silent_p.V246V|TSEN34_ENST00000396388.2_Silent_p.V246V Q9BSV6 SEN34_HUMAN TSEN34 tRNA splicing endonuclease subunit 246 mRNA processing|tRNA-type intron splice site recognition and cleavage nucleolus|tRNA-intron endonuclease complex nucleic acid binding|tRNA-intron endonuclease activity endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 10 all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) ACTTCCTGGTCTATCCTGGTG 0.512000 22 101 0 0 0.003954 0 0 PDZD2 23037 broad.mit.edu 37 5 32091151 32091151 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:32091151G>A ENST00000438447.1 + 20 7985 c.7597G>A c.(7597-7599)Gag>Aag p.E2533K PDZD2_ENST00000282493.3_Missense_Mutation_p.E2533K O15018 PDZD2_HUMAN PDZ domain containing 2 2533 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 TTCGTGTCCCGAGAAGGGCGG 0.617000 10 51 0 0 0.010729 0 0 L3MBTL4 91133 broad.mit.edu 37 18 5969551 5969551 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:5969551C>T ENST00000284898.6 - 18 1682 c.1482G>A c.(1480-1482)gtG>gtA p.V494V L3MBTL4_ENST00000317931.7_Silent_p.V485V|L3MBTL4_ENST00000400105.2_Silent_p.V494V|L3MBTL4_ENST00000535782.1_Silent_p.V298V NM_173464.3 NP_775735.2 Q8NA19 LMBL4_HUMAN l(3)mbt-like 4 (Drosophila) 494 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding p.V494V(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) GCGCCTGCTCCACCGAGTATT 0.627000 15 30 0 0 0.004990 0 0 GPC5 2262 broad.mit.edu 37 13 92408644 92408644 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:92408644C>T ENST00000377067.3 + 5 1622 c.1250C>T c.(1249-1251)cCc>cTc p.P417L GPC5_ENST00000483422.1_3'UTR NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 417 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GATGGACTTCCCTGCTGGAAT 0.393000 13 70 0 0 0.003163 0 0 FAM83B 222584 broad.mit.edu 37 6 54806232 54806232 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:54806232C>T ENST00000306858.7 + 5 2579 c.2463C>T c.(2461-2463)gaC>gaT p.D821D NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 821 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AGAAATCAGACACAAAAGTTG 0.378000 6 31 0 0 0.001984 0 0 CA10 56934 broad.mit.edu 37 17 50149681 50149681 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:50149681G>A ENST00000451037.2 - 2 1074 c.134C>T c.(133-135)cCa>cTa p.P45L CA10_ENST00000285273.4_Missense_Mutation_p.P45L|CA10_ENST00000340813.6_Missense_Mutation_p.P51L|CA10_ENST00000442502.2_Missense_Mutation_p.P45L|CA10_ENST00000570565.1_5'UTR NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 45 brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GTACTTACCTGGAACAAAGCT 0.368000 11 61 0 0 0.013537 0 0 IL3RA 3563 broad.mit.edu 37 X 1464208 1464208 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:1464208G>A ENST00000331035.4 + 3 413 c.e3-1 IL3RA_ENST00000381469.2_Intron NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 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) CACCGTTTTAGATCCAAACCC 0.428000 47 171 0 0 0.014410 0 0 GPR61 83873 broad.mit.edu 37 1 110086967 110086967 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:110086967C>T ENST00000527748.1 + 2 2006 c.1323C>T c.(1321-1323)ctC>ctT p.L441L NM_031936.4 NP_114142.3 Q9BZJ8 GPR61_HUMAN G protein-coupled receptor 61 441 integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1) 23 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228) ACAGCTACCTCCGTCCTGCCG 0.587000 6 21 0 0 0.004482 0 0 OR4D10 390197 broad.mit.edu 37 11 59245499 59245499 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:59245499G>A ENST00000530162.1 + 1 654 c.597G>A c.(595-597)atG>atA p.M199I NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 199 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 AACTACTAATGATTTCCAACA 0.463000 8 61 0 0 0.003080 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626927 108626927 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:108626927G>A ENST00000264047.2 + 9 1629 c.1353G>A c.(1351-1353)gaG>gaA p.E451E SLC5A7_ENST00000409059.1_Silent_p.E451E|SLC5A7_ENST00000540517.1_Silent_p.E346E NM_021815.2 NP_068587.1 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (sodium/choline cotransporter), member 7 451 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CTGGAGGGGAGCCATATCTGT 0.448000 11 58 0 0 0.010729 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881126 228881126 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:228881126G>A ENST00000392056.3 - 7 4490 c.4444C>T c.(4444-4446)Cat>Tat p.H1482Y SPHKAP_ENST00000344657.5_Missense_Mutation_p.H1482Y NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1482 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) ACTCACCTATGGATTTGACAA 0.443000 29 142 0 0 0.012213 0 0 C1orf158 93190 broad.mit.edu 37 1 12820745 12820745 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:12820745G>A ENST00000288048.5 + 4 662 c.446G>A c.(445-447)aGa>aAa p.R149K C1orf158_ENST00000376210.3_Missense_Mutation_p.R111K NM_152290.2 NP_689503.2 Q8N1D5 CA158_HUMAN chromosome 1 open reading frame 158 149 central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) CTCAAGCAGAGACAGCTCACA 0.542000 6 49 0 0 0.001168 0 0 ALDH9A1 223 broad.mit.edu 37 1 165649914 165649914 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:165649914G>A ENST00000354775.4 - 5 903 c.599C>T c.(598-600)gCc>gTc p.A200V ALDH9A1_ENST00000538148.1_Missense_Mutation_p.A106V|ALDH9A1_ENST00000461664.1_5'UTR NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family, member A1 176 carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process cytosol|plasma membrane 3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 21 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) NADH(DB00157) AAAGACCATGGCATTACCTGC 0.428000 21 64 0 0 0.002780 0 0 GH2 2689 broad.mit.edu 37 17 61958081 61958081 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:61958081C>T ENST00000332800.7 - 4 640 c.507G>A c.(505-507)agG>agA p.R169R GH2_ENST00000449787.2_Intron|GH2_ENST00000423893.2_Intron|GH2_ENST00000456543.2_Intron NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 0 extracellular region hormone activity breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 CTCCCCAGTCCCTGGAAGCCA 0.577000 22 89 0 0 0.002780 0 0 OR13C5 138799 broad.mit.edu 37 9 107361077 107361077 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:107361077G>A ENST00000374779.2 - 1 711 c.618C>T c.(616-618)ttC>ttT p.F206F NM_001004482.1 NP_001004482.1 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, member 5 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4) 28 GTGTCAATAGGAACAATGTTG 0.398000 15 79 0 0 0.002450 0 0 TRIM60 166655 broad.mit.edu 37 4 165962409 165962409 + Silent SNP T T G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:165962409T>G ENST00000512596.1 + 3 1401 c.1185T>G c.(1183-1185)ggT>ggG p.G395G TRIM60_ENST00000341062.5_Silent_p.G395G|TRIM60_ENST00000508504.1_Silent_p.G395G NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 395 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TGAAGAGTGGTTATGTTGCGT 0.453000 13 84 0 0 0.002450 0 0 ELFN2 114794 broad.mit.edu 37 22 37770430 37770430 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:37770430G>A ENST00000402918.1 - 3 1930 c.1145C>T c.(1144-1146)cCc>cTc p.P382L ELFN2_ENST00000349653.3_Missense_Mutation_p.P382L|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 382 cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) TCCGGGGACGGGGTCCCGCGT 0.637000 9 60 0 0 0.004482 0 0 OTUD7B 56957 broad.mit.edu 37 1 149939391 149939391 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:149939391G>A ENST00000369135.3 - 4 624 c.330C>T c.(328-330)gcC>gcT p.A110A OTUD7B_ENST00000479905.1_Intron NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 110 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) CATGGGACCGGGCCAGGGAAA 0.552000 23 60 0 0 0.004656 0 0 OBSCN 84033 broad.mit.edu 37 1 228509380 228509380 + Missense_Mutation SNP C C G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:228509380C>G ENST00000570156.2 + 66 17783 c.17709C>G c.(17707-17709)atC>atG p.I5903M OBSCN_ENST00000284548.11_Missense_Mutation_p.I4946M|OBSCN_ENST00000422127.1_Missense_Mutation_p.I4946M|OBSCN_ENST00000366707.4_Missense_Mutation_p.I2580M|OBSCN_ENST00000366709.4_Missense_Mutation_p.I2065M NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 4946 PH. 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) ACCATCACATCGACCAGCTTG 0.622000 14 42 0 0 0.002450 0 0 CD109 135228 broad.mit.edu 37 6 74407162 74407162 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:74407162C>T ENST00000437994.2 + 2 545 c.114C>T c.(112-114)ccC>ccT p.P38P CD109_ENST00000287097.5_Silent_p.P38P|CD109_ENST00000422508.2_Silent_p.P38P NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 38 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 TCATCAGGCCCGGAGGAAATG 0.502000 41 106 0 0 0.010771 0 0 CD163L1 283316 broad.mit.edu 37 12 7526091 7526091 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:7526091G>A ENST00000313599.3 - 14 3612 c.3555C>T c.(3553-3555)ggC>ggT p.G1185G CD163L1_ENST00000396630.1_Silent_p.G1185G|CD163L1_ENST00000416109.2_Silent_p.G1195G Q9NR16 C163B_HUMAN CD163 molecule-like 1 1185 SRCR 11. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TCTCCCCACAGCCCAGCTGCC 0.542000 40 122 0 0 0.006999 0 0 ICAM5 7087 broad.mit.edu 37 19 10403726 10403726 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:10403726G>A ENST00000221980.4 + 6 1332 c.1269G>A c.(1267-1269)gaG>gaA p.E423E NM_003259.3 NP_003250.3 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5, telencephalin 423 Ig-like C2-type 5. cell-cell adhesion integral to plasma membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) CGTGGCCCGAGGGCCCAGAGC 0.692000 16 66 0 0 0.004007 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10527420 10527420 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:10527420G>A ENST00000396560.2 + 4 1101 c.874G>A c.(874-876)Gaa>Aaa p.E292K ATF7IP2_ENST00000356427.2_Missense_Mutation_p.E292K|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.E292K|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.E292K NM_024997.3 NP_079273.2 Q5U623 MCAF2_HUMAN activating transcription factor 7 interacting protein 2 292 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 AGAAAACGAGGAAAATGTTAA 0.333000 7 38 0 0 0.001984 0 0 CATSPERD 257062 broad.mit.edu 37 19 5739414 5739414 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:5739414G>A ENST00000381624.3 + 7 598 c.537G>A c.(535-537)ggG>ggA p.G179G CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 179 integral to membrane CAAATACTGGGGGATTCAGTT 0.299000 17 71 0 0 0.010504 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058476 152058476 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:152058476C>T ENST00000368806.1 - 3 1746 c.1682G>A c.(1681-1683)aGc>aAc p.S561N NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 561 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) TGTCTCTGAGCTGCTATTGCC 0.537000 36 113 0 0 0.003271 0 0 RYR1 6261 broad.mit.edu 37 19 39001196 39001196 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:39001196C>T ENST00000355481.4 + 59 9122 c.8991C>T c.(8989-8991)ttC>ttT p.F2997F RYR1_ENST00000360985.3_Silent_p.F2997F|RYR1_ENST00000359596.3_Silent_p.F2997F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 2997 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) AGATTAAATTCTTTGCCAAGG 0.562000 23 78 0 0 0.003954 0 0 CACNA1D 776 broad.mit.edu 37 3 53844086 53844086 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:53844086C>T ENST00000288139.3 + 48 6131 c.6013C>T c.(6013-6015)Cca>Tca p.P2005S CACNA1D_ENST00000544977.1_3'UTR|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1961S|CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1985S NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1985 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) GGCCACCCCTCCAGCAACCCC 0.622000 12 60 0 0 0.010729 0 0 RIMS1 22999 broad.mit.edu 37 6 73000453 73000453 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:73000453G>A ENST00000521978.1 + 25 3626 c.3626G>A c.(3625-3627)gGa>gAa p.G1209E RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000425662.2_Intron NM_014989.5 NP_055804.2 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1209 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) GTCATTAGGGGAAAACATCCT 0.517000 12 31 0 0 0.001855 0 0 PDK4 5166 broad.mit.edu 37 7 95217039 95217039 + Splice_Site SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:95217039C>T ENST00000005178.5 - 8 1067 c.870_splice c.e8+1 p.K290_splice NM_002612.3 NP_002603.1 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase, isozyme 4 290 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) GAATGGTTACCTTAATGGTAA 0.383000 4 33 0 0 0.009096 0 0 CYP2A13 1553 broad.mit.edu 37 19 41601665 41601665 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:41601665G>A ENST00000330436.3 + 9 1304 c.1303_splice c.e9-1 p.G435_splice NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 435 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) TCCTCCTCAGGAAAGCGGTAC 0.577000 18 90 0 0 0.006122 0 0 PTPN3 5774 broad.mit.edu 37 9 112144595 112144595 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:112144595G>A ENST00000412145.1 - 19 4675 c.2122C>T c.(2122-2124)Cta>Tta p.L708L PTPN3_ENST00000374541.2_Silent_p.L839L|PTPN3_ENST00000394827.3_Silent_p.L307L|PTPN3_ENST00000262539.3_Silent_p.L685L|PTPN3_ENST00000446349.1_Silent_p.L663L NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 839 Tyrosine-protein phosphatase. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 CAGTGAACTAGGACGGGCTCG 0.547000 5 17 0 0 0.000602 0 0 GTPBP1 9567 broad.mit.edu 37 22 39112978 39112978 + Silent SNP C C G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:39112978C>G ENST00000216044.5 + 4 1040 c.807C>G c.(805-807)ggC>ggG p.G269G NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 269 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) GCATGACAGGCCATCTGCCTG 0.537000 11 54 0 0 0.010729 0 0 OR52N4 390072 broad.mit.edu 37 11 5776098 5776098 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:5776098G>A ENST00000317254.3 + 1 176 c.128G>A c.(127-129)gGg>gAg p.G43E TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) GCTATGGTAGGGAATTGTGGA 0.453000 15 73 0 0 0.002450 0 0 GOLGA3 2802 broad.mit.edu 37 12 133385019 133385019 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:133385019G>A ENST00000204726.3 - 5 1194 c.636C>T c.(634-636)ttC>ttT p.F212F GOLGA3_ENST00000456883.2_Silent_p.F212F|GOLGA3_ENST00000545875.1_Silent_p.F212F|GOLGA3_ENST00000537452.1_Silent_p.F212F|GOLGA3_ENST00000450791.2_Silent_p.F212F NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 212 Golgi-targeting domain. intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) TGGTGCGCAGGAAGGAATATT 0.507000 60 274 0 0 0.014410 0 0 CDK14 5218 broad.mit.edu 37 7 90747450 90747450 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:90747450G>A ENST00000406263.1 + 13 1669 c.1227G>A c.(1225-1227)ggG>ggA p.G409G CDK14_ENST00000436577.2_Silent_p.G326G|CDK14_ENST00000265741.3_Silent_p.G437G|CDK14_ENST00000380050.3_Silent_p.G455G O94921 CDK14_HUMAN cyclin-dependent kinase 14 455 Protein kinase. cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane ATP binding|cyclin binding|cyclin-dependent protein kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4) 32 GGGCCTTTGGGAAAAACAATA 0.418000 5 48 0 0 0.000602 0 0 ALPI 248 broad.mit.edu 37 2 233322995 233322995 + Missense_Mutation SNP G G A rs151137290 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:233322995G>A ENST00000295463.3 + 9 1137 c.1060G>A c.(1060-1062)Gac>Aac p.D354N NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 354 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding p.D354N(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) GGTCATGTTCGACGACGCCAT 0.622000 14 66 0 0 0.002450 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917969 65917969 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:65917969C>T ENST00000261892.6 + 2 1838 c.1551C>T c.(1549-1551)ttC>ttT p.F517F SLC24A1_ENST00000546330.1_Silent_p.F517F|SLC24A1_ENST00000339868.6_Silent_p.F517F|SLC24A1_ENST00000544319.2_Silent_p.F517F|SLC24A1_ENST00000537259.1_Silent_p.F517F|SLC24A1_ENST00000399033.4_Silent_p.F517F NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 517 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TCGGTGTCTTCATTTCCCACA 0.542000 17 77 0 0 0.006122 0 0 OC90 729330 broad.mit.edu 37 8 133044155 133044155 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:133044155C>T ENST00000262283.5 - 16 1739 c.1640G>A c.(1639-1641)aGa>aAa p.R547K OC90_ENST00000254627.3_Missense_Mutation_p.R335K|OC90_ENST00000603859.1_Missense_Mutation_p.R335K|OC90_ENST00000443356.2_Missense_Mutation_p.R351K Q02509 OC90_HUMAN otoconin 90 351 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TGGCTCGCCTCTTCCTTCTTG 0.547000 5 40 0 0 0.000602 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43873490 43873490 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:43873490G>A ENST00000420765.1 - 9 1056 c.874C>T c.(874-876)Cga>Tga p.R292* PPIP5K1_ENST00000381885.1_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000360301.4_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000360135.4_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000381879.4_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000334933.4_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000432870.3_5'UTR|PPIP5K1_ENST00000396923.3_Nonsense_Mutation_p.R292*|PPIP5K1_ENST00000348806.6_Nonsense_Mutation_p.R292* NM_001130858.2 NP_001124330.1 Q6PFW1 VIP1_HUMAN diphosphoinositol pentakisphosphate kinase 1 292 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity p.R292*(1) large_intestine(1) 1 ACTGGATATCGAATCTCTTTC 0.512000 32 306 0 0 0.003755 0 0 GDPD4 220032 broad.mit.edu 37 11 76982231 76982231 + Missense_Mutation SNP A A C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:76982231A>C ENST00000315938.4 - 6 594 c.344T>G c.(343-345)gTg>gGg p.V115G GDPD4_ENST00000376217.2_Missense_Mutation_p.V115G NM_182833.1 NP_878253.1 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain containing 4 115 glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 20 GATAACCATCACAGTTATGCT 0.488000 14 40 0 0 0.004007 0 0 JAG1 182 broad.mit.edu 37 20 10625626 10625626 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:10625626G>A ENST00000254958.5 - 18 2744 c.2227_splice c.e18-1 p.A743_splice JAG1_ENST00000423891.2_Splice_Site_p.A584_splice NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 743 angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 TACTGTTTCGGGCTATAAAAG 0.567000 Alagille Syndrome 39 195 0 0 0.010771 0 0 TTN 7273 broad.mit.edu 37 2 179486223 179486223 + Missense_Mutation SNP C C T rs17354992 by1000genomes TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:179486223C>T ENST00000589042.1 - 245 45552 c.45328G>A c.(45328-45330)Gat>Aat p.D15110N TTN_ENST00000342992.6_Missense_Mutation_p.D12542N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6237N|TTN_ENST00000460472.2_Missense_Mutation_p.D6045N|TTN_ENST00000591111.1_Missense_Mutation_p.D13469N|TTN_ENST00000359218.5_Missense_Mutation_p.D6170N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13469 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) ACTTTGCCATCGGTTCGAGAG 0.398000 13 54 0 0 0.003163 0 0 MICAL1 64780 broad.mit.edu 37 6 109768899 109768899 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:109768899C>T ENST00000368952.4 - 15 2318 c.2028G>A c.(2026-2028)aaG>aaA p.K676K MICAL1_ENST00000358807.3_Silent_p.K657K|MICAL1_ENST00000358577.3_Silent_p.K571K Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 657 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) AGCGCAGCTTCTTGCCACCAG 0.517000 23 129 0 0 0.005443 0 0 TIE1 7075 broad.mit.edu 37 1 43778840 43778840 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:43778840C>T ENST00000372476.3 + 13 2041 c.1962C>T c.(1960-1962)gcC>gcT p.A654A TIE1_ENST00000433781.2_Silent_p.A299A NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 654 Fibronectin type-III 3. 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) ACGCCCAGGCCCTCTCAGACT 0.647000 13 40 0 0 0.002450 0 0 MALAT1 378938 broad.mit.edu 37 11 65273128 65273128 + RNA SNP T T G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:65273128T>G ENST00000534336.1 + 0 7896 NR_002819.2 CATAATCGGTTTCAAGGTAAC 0.473000 17 84 0 0 0.007413 0 0 SIDT1 54847 broad.mit.edu 37 3 113330992 113330992 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:113330992C>T ENST00000264852.4 + 19 2643 c.1917C>T c.(1915-1917)gcC>gcT p.A639A SIDT1_ENST00000393830.3_Silent_p.A639A|SIDT1_ENST00000463226.1_3'UTR NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 639 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 ACGTTCTGGCCTCGCTAGCCC 0.413000 18 72 0 0 0.012319 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24259525 24259525 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:24259525C>T ENST00000538205.1 + 13 1550 c.1003C>T c.(1003-1005)Cct>Tct p.P335S RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.P414S|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.P335S NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 414 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AGCACCTATTCCTACAAATAT 0.393000 5 50 0 0 0.000602 0 0 PTGIS 5740 broad.mit.edu 37 20 48130930 48130930 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:48130930C>T ENST00000244043.4 - 7 887 c.858G>A c.(856-858)ggG>ggA p.G286G PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 286 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) GACCCATATTCCCCTGCAAGG 0.597000 12 31 0 0 0.010729 0 0 LGALS12 85329 broad.mit.edu 37 11 63276341 63276341 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:63276341C>T ENST00000415491.2 + 2 747 c.133C>T c.(133-135)Cat>Tat p.H45Y LGALS12_ENST00000425950.2_Missense_Mutation_p.H45Y|LGALS12_ENST00000340246.5_Missense_Mutation_p.H107Y|LGALS12_ENST00000255684.5_Missense_Mutation_p.H106Y|LGALS12_ENST00000394618.3_Missense_Mutation_p.H106Y NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 106 apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 CACCAAGCCCCATGTCATCTG 0.607000 19 60 0 0 0.006122 0 0 CDH12 1010 broad.mit.edu 37 5 21765107 21765107 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:21765107C>T ENST00000382254.1 - 12 2581 c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K CDH12_ENST00000522262.1_Missense_Mutation_p.E459K|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.E499K NM_004061.3 NP_004052.2 P55289 CAD12_HUMAN cadherin 12, type 2 (N-cadherin 2) 499 Cadherin 5. 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 TTGGCATTTTCACACACGGCT 0.353000 HNSCC(59;0.17) 10 71 0 0 0.008291 0 0 ROCK1 6093 broad.mit.edu 37 18 18588072 18588072 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:18588072G>A ENST00000399799.1 - 14 2434 c.1494C>T c.(1492-1494)taC>taT p.Y498Y NM_005406.2 NP_005397.1 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein kinase 1 498 Interaction with FHOD1. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2) 16 Melanoma(1;0.165) CTTTTCTTTGGTACTCATTAA 0.313000 6 18 0 0 0.001168 0 0 GRIK3 2899 broad.mit.edu 37 1 37270690 37270690 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:37270690G>A ENST00000373091.3 - 15 2479 c.2463C>T c.(2461-2463)atC>atT p.I821I GRIK3_ENST00000373093.4_Silent_p.I821I NM_000831.3 NP_000822.2 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 821 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) AGATGCCCCCGATCTTCTGGA 0.597000 18 82 0 0 0.008871 0 0 IL37 27178 broad.mit.edu 37 2 113675263 113675263 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:113675263G>A ENST00000263326.3 + 4 359 c.317G>A c.(316-318)gGa>gAa p.G106E IL37_ENST00000353225.3_Missense_Mutation_p.G66E|IL37_ENST00000349806.3_Missense_Mutation_p.G45E|IL37_ENST00000352179.3_Missense_Mutation_p.G85E|IL37_ENST00000311328.2_Missense_Mutation_p.G80E NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 106 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 GCGGAGAAAGGAAGTCCGATT 0.483000 34 139 0 0 0.012213 0 0 THSD7B 80731 broad.mit.edu 37 2 137917931 137917931 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:137917931G>A ENST00000409968.1 + 6 1696 c.1518G>A c.(1516-1518)ggG>ggA p.G506G THSD7B_ENST00000485379.1_3'UTR|THSD7B_ENST00000272643.3_Silent_p.G506G|THSD7B_ENST00000413152.2_Silent_p.G475G|THSD7B_ENST00000543459.1_Intron thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) ATCCTCAGGGGAAAAAAGGTG 0.468000 9 42 0 0 0.013537 0 0 SRGAP3 9901 broad.mit.edu 37 3 9069797 9069797 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:9069797C>T ENST00000360413.3 - 12 1715 c.1454G>A c.(1453-1455)cGa>cAa p.R485Q SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000383836.3_Intron NM_001033117.2 NP_001028289.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 492 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) GTTCCTGGTTCGAGCATTTCT 0.428000 T RAF1 pilocytic astrocytoma 12 92 0 0 0.003163 0 0 DNAH10 196385 broad.mit.edu 37 12 124337761 124337761 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:124337761G>A ENST00000409039.3 + 35 5971 c.5946G>A c.(5944-5946)gcG>gcA p.A1982A NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1982 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) AGACTCTGGCGAAAAAGATGA 0.403000 5 4 0 0 0.000602 0 0 SLC36A3 285641 broad.mit.edu 37 5 150666947 150666947 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:150666947G>A ENST00000335230.3 - 6 979 c.568C>T c.(568-570)Cgt>Tgt p.R190C SLC36A3_ENST00000377713.3_Missense_Mutation_p.R231C NM_181774.3 NP_861439.3 Q495N2 S36A3_HUMAN solute carrier family 36, member 3 190 R -> H (in dbSNP:rs17660042). integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2) 21 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGTAGAAACGAATGTCCAGG 0.512000 13 61 0 0 0.013537 0 0 COL4A1 1282 broad.mit.edu 37 13 110825088 110825088 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:110825088G>A ENST00000375820.4 - 41 3656 c.3535C>T c.(3535-3537)Cca>Tca p.P1179S NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 1179 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) TTGGCCCCTGGAAACCCTGGG 0.468000 33 104 0 0 0.006230 0 0 URB2 9816 broad.mit.edu 37 1 229770924 229770924 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:229770924C>T ENST00000258243.2 + 4 700 c.564C>T c.(562-564)gtC>gtT p.V188V NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 188 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 AGCAGCAGGTCAACCCAAGAC 0.612000 11 56 0 0 0.010729 0 0 TACR3 6870 broad.mit.edu 37 4 104640404 104640404 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:104640404G>A ENST00000304883.2 - 1 569 c.429C>T c.(427-429)ttC>ttT p.F143F NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 143 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) GCGCGTAGATGAAATTGACCA 0.532000 11 33 0 0 0.001855 0 0 SAMD3 154075 broad.mit.edu 37 6 130467282 130467282 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:130467282C>T ENST00000368134.2 - 12 1676 c.1068G>A c.(1066-1068)aaG>aaA p.K356K SAMD3_ENST00000457563.2_Silent_p.K380K|SAMD3_ENST00000439090.2_Silent_p.K356K|SAMD3_ENST00000437477.2_Silent_p.K356K NM_001258275.1 NP_001245204.1 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 356 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GCCTTGTTTTCTTATAAATAT 0.308000 7 45 0 0 0.001984 0 0 CEP76 79959 broad.mit.edu 37 18 12674678 12674678 + Missense_Mutation SNP A A C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:12674678A>C ENST00000262127.2 - 11 1923 c.1698T>G c.(1696-1698)ttT>ttG p.F566L CEP76_ENST00000423709.2_Missense_Mutation_p.F491L|RP11-973H7.2_ENST00000585331.1_RNA NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 566 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TTGTACGCTCAAATTCATAAG 0.408000 14 39 0 0 0.001855 0 0 FBN3 84467 broad.mit.edu 37 19 8203108 8203108 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:8203108G>A ENST00000600128.1 - 10 1532 c.1118C>T c.(1117-1119)cCc>cTc p.P373L FBN3_ENST00000270509.2_Missense_Mutation_p.P373L|FBN3_ENST00000601739.1_Missense_Mutation_p.P373L Q75N90 FBN3_HUMAN fibrillin 3 373 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 CCCAAGAGGGGGACCCATGCC 0.657000 12 39 0 0 0.013537 0 0 FER1L6 654463 broad.mit.edu 37 8 125076659 125076659 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:125076659C>T ENST00000522917.1 + 26 3606 c.3400C>T c.(3400-3402)Cac>Tac p.H1134Y FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.H1134Y NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 1134 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCCAGCAGATCACATTTATGT 0.572000 28 125 0 0 0.009535 0 0 PDZD2 23037 broad.mit.edu 37 5 32053928 32053928 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:32053928G>A ENST00000438447.1 + 10 2227 c.1839G>A c.(1837-1839)ggG>ggA p.G613G PDZD2_ENST00000282493.3_Silent_p.G613G O15018 PDZD2_HUMAN PDZ domain containing 2 613 PDZ 3. 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 GACAGATGGGGATTTTTGTCA 0.478000 25 134 0 0 0.009535 0 0 TECTA 7007 broad.mit.edu 37 11 121028895 121028895 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:121028895G>A ENST00000392793.1 + 14 4922 c.4651G>A c.(4651-4653)Gaa>Aaa p.E1551K TECTA_ENST00000264037.2_Missense_Mutation_p.E1551K O75443 TECTA_HUMAN tectorin alpha 1551 VWFD 4. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTACATTAACGAAGAGCAGAT 0.537000 14 58 0 0 0.003163 0 0 DYSF 8291 broad.mit.edu 37 2 71780958 71780958 + Missense_Mutation SNP C C G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:71780958C>G ENST00000258104.3 + 21 2229 c.1952C>G c.(1951-1953)cCc>cGc p.P651R DYSF_ENST00000409582.3_Missense_Mutation_p.P668R|DYSF_ENST00000410041.1_Missense_Mutation_p.P669R|DYSF_ENST00000409366.1_Missense_Mutation_p.P652R|DYSF_ENST00000409744.1_Missense_Mutation_p.P638R|DYSF_ENST00000410020.3_Missense_Mutation_p.P669R|DYSF_ENST00000394120.2_Missense_Mutation_p.P652R|DYSF_ENST00000409762.1_Missense_Mutation_p.P668R|DYSF_ENST00000409651.1_Missense_Mutation_p.P683R|DYSF_ENST00000413539.2_Missense_Mutation_p.P682R|DYSF_ENST00000429174.2_Missense_Mutation_p.P651R NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 651 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TACTACCTACCCTGGGGTAAC 0.597000 3 17 0 0 0.004672 0 0 REV3L 5980 broad.mit.edu 37 6 111696451 111696451 + Missense_Mutation SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:111696451G>T ENST00000435970.1 - 15 3689 c.2873C>A c.(2872-2874)cCc>cAc p.P958H REV3L_ENST00000358835.3_Missense_Mutation_p.P1036H|REV3L_ENST00000368802.3_Missense_Mutation_p.P1036H|REV3L_ENST00000368805.1_Missense_Mutation_p.P1036H O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1036 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TGGATAAATGGGATATTTGGT 0.333000 DNA polymerases (catalytic subunits) 22 136 7.92952e-12 8.28108e-12 0.003954 1 0 RASGRF2 5924 broad.mit.edu 37 5 80382693 80382693 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:80382693G>A ENST00000265080.4 + 9 1378 c.1311G>A c.(1309-1311)agG>agA p.R437R RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 437 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) AAAACATAAGGAAAAACCTTG 0.473000 7 39 0 0 0.001984 0 0 CDR1 1038 broad.mit.edu 37 X 139865858 139865858 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:139865858C>T ENST00000370532.2 - 1 865 c.674G>A c.(673-675)aGa>aAa p.R225K NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 225 breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCAGAAAAATCTACGTCTTCC 0.438000 22 56 0 0 0.014323 0 0 ATXN7L3 56970 broad.mit.edu 37 17 42275002 42275002 + Silent SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:42275002A>G ENST00000389384.4 - 2 456 c.148T>C c.(148-150)Ttg>Ctg p.L50L ATXN7L3_ENST00000454077.2_Silent_p.L50L|ATXN7L3_ENST00000593073.1_Intron NM_001098833.1 NP_001092303.1 Q14CW9 AT7L3_HUMAN ataxin 7-like 3 50 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent SAGA complex ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 12 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) GTGTCGTCCAAGAAGAAGTAG 0.547000 20 118 0 0 0.012319 0 0 OSBPL3 26031 broad.mit.edu 37 7 24902884 24902884 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:24902884C>T ENST00000313367.2 - 9 1256 c.805G>A c.(805-807)Gaa>Aaa p.E269K OSBPL3_ENST00000396429.1_Missense_Mutation_p.E269K|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000431825.2_Intron|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E269K|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000396431.1_Intron NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 269 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 GATCTTTTTTCCTTTTTGGGA 0.448000 14 73 0 0 0.004007 0 0 OR5H15 403274 broad.mit.edu 37 3 97888366 97888366 + Missense_Mutation SNP C C G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:97888366C>G ENST00000356526.2 + 1 823 c.823C>G c.(823-825)Cct>Gct p.P275A NM_001005515.1 NP_001005515.1 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, member 15 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1) 35 TATGGTGGAGCCTCTATTCTA 0.393000 8 49 0 0 0.003080 0 0 RAPGEF4 11069 broad.mit.edu 37 2 173832016 173832016 + Missense_Mutation SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:173832016A>G ENST00000264111.6 + 10 1032 c.845A>G c.(844-846)aAa>aGa p.K282R RAPGEF4_ENST00000539331.1_Missense_Mutation_p.K130R|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.K112R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.K63R|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.K283R|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.K283R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.K139R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.K130R Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 283 DEP. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 OV - Ovarian serous cystadenocarcinoma(117;0.194) TTCCAAGACAAATATTTATTC 0.498000 6 17 0 0 0.004482 0 0 OR4K2 390431 broad.mit.edu 37 14 20344762 20344762 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:20344762C>T ENST00000298642.2 + 1 372 c.336C>T c.(334-336)atC>atT p.I112I NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAACTGAGATCATCTTACTCA 0.438000 28 69 0 0 0.006320 0 0 TRPM3 80036 broad.mit.edu 37 9 73458035 73458035 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:73458035G>A ENST00000377110.2 - 5 928 c.685C>T c.(685-687)Cgt>Tgt p.R229C TRPM3_ENST00000408909.2_Missense_Mutation_p.R76C|TRPM3_ENST00000360823.2_Missense_Mutation_p.R76C|TRPM3_ENST00000377105.1_Missense_Mutation_p.R76C|TRPM3_ENST00000396285.1_Missense_Mutation_p.R76C|TRPM3_ENST00000377111.2_Missense_Mutation_p.R229C|TRPM3_ENST00000377106.1_Missense_Mutation_p.R76C|TRPM3_ENST00000396280.5_Missense_Mutation_p.R76C|TRPM3_ENST00000358082.3_Missense_Mutation_p.R76C|TRPM3_ENST00000377101.1_Missense_Mutation_p.R76C|TRPM3_ENST00000361823.5_Missense_Mutation_p.R76C|TRPM3_ENST00000396283.1_Missense_Mutation_p.R76C|TRPM3_ENST00000377097.3_Missense_Mutation_p.R76C|TRPM3_ENST00000357533.2_Missense_Mutation_p.R231C|TRPM3_ENST00000423814.3_Missense_Mutation_p.R231C|TRPM3_ENST00000396292.4_Missense_Mutation_p.R76C NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 229 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CCAACATGACGAATAACACCT 0.403000 4 21 0 0 0.000602 0 0 SLC26A4 5172 broad.mit.edu 37 7 107334926 107334926 + Splice_Site SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:107334926G>T ENST00000265715.3 + 11 1565 c.e11+1 SLC26A4_ENST00000480841.1_Splice_Site|SLC26A4_ENST00000543100.1_Splice_Site|SLC26A4_ENST00000544569.1_Splice_Site|SLC26A4_ENST00000541474.1_Intron NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CTTGCAGAAGGTATAACCCTG 0.458000 Pendred syndrome 12 57 4.3838e-07 4.5468e-07 0.001855 1 0 CACNA1A 773 broad.mit.edu 37 19 13386753 13386753 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:13386753G>A ENST00000360228.5 - 24 3899 c.3900C>T c.(3898-3900)ctC>ctT p.L1300L CACNA1A_ENST00000573710.2_Silent_p.L1301L NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 1301 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GATGCAGGACGAGCCCCAGGT 0.592000 6 24 0 0 0.001984 0 0 C2orf80 389073 broad.mit.edu 37 2 209051686 209051686 + Missense_Mutation SNP C C T rs138681111 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:209051686C>T ENST00000341287.4 - 2 220 c.25G>A c.(25-27)Gaa>Aaa p.E9K C2orf80_ENST00000453017.1_Missense_Mutation_p.E9K|C2orf80_ENST00000451346.1_Intron NM_001099334.2 NP_001092804.1 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 9 p.E9K(1) endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 TTTTTCATTTCCTTCTTTATG 0.423000 8 29 0 0 0.003080 0 0 AFF3 3899 broad.mit.edu 37 2 100209733 100209733 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:100209733G>A ENST00000317233.4 - 14 2625 c.2390C>T c.(2389-2391)tCt>tTt p.S797F AFF3_ENST00000409579.1_Missense_Mutation_p.S822F|AFF3_ENST00000356421.2_Missense_Mutation_p.S822F|AFF3_ENST00000409236.1_Missense_Mutation_p.S797F NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 797 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 TGCGCTCTCAGAGTCCTTGGT 0.607000 17 62 0 0 0.006122 0 0 FGD2 221472 broad.mit.edu 37 6 36976721 36976721 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:36976721C>T ENST00000274963.8 + 2 351 c.180C>T c.(178-180)gcC>gcT p.A60A NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 60 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 TCGGGGAGGCCGTGGGGTCTG 0.632000 9 86 0 0 0.004482 0 0 BNC1 646 broad.mit.edu 37 15 83935648 83935648 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:83935648G>A ENST00000345382.2 - 3 460 c.375C>T c.(373-375)ctC>ctT p.L125L BNC1_ENST00000569704.1_Silent_p.L118L|RP11-382A20.4_ENST00000565495.1_RNA NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 125 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 GGAGGATCTGGAGAACCTCAT 0.493000 19 97 0 0 0.008871 0 0 GRWD1 83743 broad.mit.edu 37 19 48954323 48954323 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:48954323C>T ENST00000253237.5 + 6 1091 c.858C>T c.(856-858)atC>atT p.I286I NM_031485.3 NP_113673.3 Q9BQ67 GRWD1_HUMAN glutamate-rich WD repeat containing 1 286 nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1) 19 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222) ACGCCTCCATCCGCATCTGGG 0.672000 15 61 0 0 0.006122 0 0 FAR2P1 440905 broad.mit.edu 37 2 130792830 130792830 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:130792830C>T ENST00000325390.3 - 0 2498 NR_026758.1 GAAACCCTTTCCCAGCCTGCA 0.418000 5 13 0 0 0.000602 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227239590 227239590 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:227239590G>A ENST00000366766.2 - 22 3943 c.3001C>T c.(3001-3003)Cca>Tca p.P1001S CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366769.3_Intron|CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000334218.5_Intron|CDC42BPA_ENST00000366765.3_Intron Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 979 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) ACCTTAACTGGCTCAGCTTCA 0.463000 9 60 0 0 0.008291 0 0 RNF152 220441 broad.mit.edu 37 18 59483693 59483693 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:59483693C>T ENST00000312828.3 - 2 1103 c.4G>A c.(4-6)Gag>Aag p.E2K NM_173557.2 NP_775828.1 Q8N8N0 RN152_HUMAN ring finger protein 152 2 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1) 17 Colorectal(73;0.186) GACAGCGTCTCCATGGTGGAC 0.587000 15 85 0 0 0.004990 0 0 SIGLECL1 284369 broad.mit.edu 37 19 51771825 51771825 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:51771825G>A ENST00000316401.7 + 6 949 c.567_splice c.e6-1 p.E190_splice SIGLECL1_ENST00000597824.1_Splice_Site_p.E96_splice|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR NM_173635.1 NP_775906.1 SIGLEC family like 1 TCGCTTTCAGGAAAAGCAAGA 0.428000 7 44 0 0 0.006214 0 0 HYDIN 54768 broad.mit.edu 37 16 70908731 70908731 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:70908731G>A ENST00000393567.2 - 63 10799 c.10649C>T c.(10648-10650)cCa>cTa p.P3550L NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 3550 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) TTTTACATGTGGTTTATTTTC 0.522000 7 16 0 0 0.003080 0 0 ARSK 153642 broad.mit.edu 37 5 94918630 94918630 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:94918630G>A ENST00000380009.4 + 4 632 c.427G>A c.(427-429)Gaa>Aaa p.E143K NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 143 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) TAATCGTGTGGAAGCGTGGAC 0.383000 22 95 0 0 0.004656 0 0 MTFR2 113115 broad.mit.edu 37 6 136552438 136552438 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:136552438G>A ENST00000420702.1 - 8 1522 c.1133C>T c.(1132-1134)aCa>aTa p.T378I MTFR2_ENST00000451457.2_Missense_Mutation_p.T378I NM_001099286.1 NP_001092756.1 mitochondrial fission regulator 2 TAGAAGGCTTGTGTTGCTGAT 0.363000 4 21 0 0 0.000602 0 0 RGR 5995 broad.mit.edu 37 10 86017672 86017672 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:86017672G>A ENST00000359452.4 + 6 704 c.666G>A c.(664-666)agG>agA p.R222R RGR_ENST00000479725.1_3'UTR|RGR_ENST00000358110.5_Intron NM_001012720.1|NM_002921.3 NP_001012738.1|NP_002912.2 P47804 RGR_HUMAN retinal G protein coupled receptor 218 phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity|protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 17 TGCCAGCAAGGACGCTGCTGC 0.557000 7 45 0 0 0.006214 0 0 DOCK2 1794 broad.mit.edu 37 5 169410162 169410162 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:169410162G>A ENST00000256935.8 + 28 2970 c.2890G>A c.(2890-2892)Gaa>Aaa p.E964K DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E25K|DOCK2_ENST00000520908.1_Missense_Mutation_p.E456K NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 964 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GACCAGCTCTGAACTTGTGGT 0.502000 27 89 0 0 0.006320 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373763 86373763 + Silent SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:86373763A>G ENST00000604798.1 - 8 1945 c.741T>C c.(739-741)acT>acC p.T247T MGAT4C_ENST00000393205.2_Silent_p.T276T|MGAT4C_ENST00000548651.1_Silent_p.T247T|MGAT4C_ENST00000552808.2_Silent_p.T247T|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Silent_p.T247T|MGAT4C_ENST00000549405.2_Silent_p.T247T Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 247 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TTACCCAGTAAGTTCCTTCTA 0.353000 6 35 0 0 0.001168 0 0 ZBTB18 10472 broad.mit.edu 37 1 244217203 244217203 + Nonsense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:244217203C>T ENST00000358704.4 + 2 276 c.127C>T c.(127-129)Cag>Tag p.Q43* NM_001278196.1|NM_006352.4|NM_205768.2 NP_001265125.1|NP_006343.2|NP_991331.1 zinc finger and BTB domain containing 18 GGGAGATGCCCAGTTCCGAGC 0.488000 16 57 0 0 0.004007 0 0 NDNF 79625 broad.mit.edu 37 4 121957872 121957872 + Silent SNP G G A rs148977529 byFrequency TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:121957872G>A ENST00000379692.4 - 4 1780 c.1254C>T c.(1252-1254)ctC>ctT p.L418L NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 418 breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 TCAGTCGAACGAGGTATTTAG 0.418000 30 90 0 0 0.008361 0 0 IFT172 26160 broad.mit.edu 37 2 27676582 27676582 + Missense_Mutation SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:27676582G>T ENST00000260570.3 - 34 3839 c.3736C>A c.(3736-3738)Ctg>Atg p.L1246M NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1246 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CAGATGCGCAGAGCGTCACTC 0.582000 14 47 3.99206e-14 4.17728e-14 0.007413 1 0 FANCD2 2177 broad.mit.edu 37 3 10130618 10130618 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:10130618T>C ENST00000287647.3 + 36 3760 c.3667T>C c.(3667-3669)Ttc>Ctc p.F1223L FANCD2_ENST00000419585.1_Missense_Mutation_p.F1223L|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383806.1_Missense_Mutation_p.F1223L|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.F1223L NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 1223 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTCCTCCACATTCCCTACACT 0.498000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 18 92 0 0 0.006122 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004814 75004814 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:75004814C>T ENST00000373359.2 - 1 265 c.73G>A c.(73-75)Gaa>Aaa p.E25K NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 25 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 GCTTGTATTTCACCTCTGCCG 0.577000 10 17 0 0 0.006214 0 0 ITIH5 80760 broad.mit.edu 37 10 7615118 7615118 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:7615118G>A ENST00000256861.6 - 11 2097 c.2019C>T c.(2017-2019)atC>atT p.I673I ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Silent_p.I455I|ITIH5_ENST00000298441.6_Silent_p.I459I|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000397145.2_Silent_p.I673I NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 673 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 ATGTTTTAGAGATTTTAATTC 0.423000 7 21 0 0 0.001984 0 0 TIMM17A 10440 broad.mit.edu 37 1 201924657 201924657 + Translation_Start_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:201924657G>A ENST00000367287.4 + 1 39 c.3G>A c.(1-3)atG>atA p.M1I NM_006335.2 NP_006326.1 Q99595 TI17A_HUMAN translocase of inner mitochondrial membrane 17 homolog A (yeast) 1 protein targeting to mitochondrion integral to membrane|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity kidney(1)|lung(3)|stomach(1) 5 GAGTCAAGATGGAGGAGTACG 0.617000 16 53 0 0 0.004990 0 0 HFE2 148738 broad.mit.edu 37 1 145416872 145416872 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:145416872C>T ENST00000336751.5 + 4 1455 c.1217C>T c.(1216-1218)tCc>tTc p.S406F HFE2_ENST00000357836.5_Missense_Mutation_p.S293F|HFE2_ENST00000475797.1_Missense_Mutation_p.S180F|HFE2_ENST00000497365.1_Missense_Mutation_p.S180F NM_213653.3 NP_998818.1 Q6ZVN8 RGMC_HUMAN hemochromatosis type 2 (juvenile) 406 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTTCCTCTTTCCTCAGCAACC 0.522000 14 99 0 0 0.001855 0 0 WDR60 55112 broad.mit.edu 37 7 158663875 158663875 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:158663875G>A ENST00000407559.3 + 3 270 c.112G>A c.(112-114)Gag>Aag p.E38K NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 38 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) AAAGCACAGAGAGAAGAAGCT 0.527000 22 45 0 0 0.014323 0 0 GRID2 2895 broad.mit.edu 37 4 94436427 94436427 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:94436427G>A ENST00000282020.4 + 13 2316 c.2058G>A c.(2056-2058)gcG>gcA p.A686A GRID2_ENST00000510992.1_Silent_p.A591A NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 686 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TAGACTCTGCGGTATATGAGC 0.468000 7 35 0 0 0.003080 0 0 SIN3A 25942 broad.mit.edu 37 15 75684670 75684670 + Missense_Mutation SNP G G C rs150346677 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:75684670G>C ENST00000394947.3 - 15 3078 c.2764C>G c.(2764-2766)Cga>Gga p.R922G SIN3A_ENST00000360439.4_Missense_Mutation_p.R922G|SIN3A_ENST00000394949.4_Missense_Mutation_p.R922G NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 922 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 TCTCTCTCTCGGTTTTCTTCT 0.493000 21 123 0 0 0.003330 0 0 KIAA1328 57536 broad.mit.edu 37 18 34647216 34647216 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:34647216C>T ENST00000591619.1 + 7 1714 c.928C>T c.(928-930)Cgt>Tgt p.R310C KIAA1328_ENST00000435985.2_Missense_Mutation_p.R30C|KIAA1328_ENST00000543923.1_Missense_Mutation_p.R206C|KIAA1328_ENST00000280020.5_Missense_Mutation_p.R314C|KIAA1328_ENST00000586135.1_Missense_Mutation_p.R30C|KIAA1328_ENST00000586501.1_Missense_Mutation_p.R30C Q86T90 K1328_HUMAN KIAA1328 314 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) TGCTGCAGATCGTGTTCATGA 0.458000 7 53 0 0 0.001984 0 0 PTPRB 5787 broad.mit.edu 37 12 70946612 70946612 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:70946612C>T ENST00000334414.6 - 21 5376 c.5332G>A c.(5332-5334)Gat>Aat p.D1778N PTPRB_ENST00000550857.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1690N|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1470N|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1470N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1560N NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1560 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGAGTGGGATCGCATTTTCCA 0.423000 15 37 0 0 0.004007 0 0 PNMA2 10687 broad.mit.edu 37 8 26366158 26366158 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:26366158G>A ENST00000522362.2 - 3 1008 c.114C>T c.(112-114)gtC>gtT p.V38V NM_007257.5 NP_009188.1 Q9UL42 PNMA2_HUMAN paraneoplastic Ma antigen 2 38 apoptosis nucleolus protein binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3) 11 all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105) UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123) tctcctgaaggacctcctgaa 0.498000 18 80 0 0 0.007413 0 0 EPHX4 253152 broad.mit.edu 37 1 92498096 92498096 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:92498096G>A ENST00000370383.4 + 2 364 c.266G>A c.(265-267)gGa>gAa p.G89E NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 89 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 GTTGCTGCTGGAGAAAGAGGC 0.358000 15 67 0 0 0.007413 0 0 DCDC1 341019 broad.mit.edu 37 11 30953326 30953326 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:30953326C>T ENST00000597505.1 - 20 2888 c.2889G>A c.(2887-2889)cgG>cgA p.R963R DCDC1_ENST00000339794.5_Silent_p.R42R|DCDC1_ENST00000437348.1_5'UTR|DCDC1_ENST00000406071.2_5'UTR P59894 DCDC1_HUMAN doublecortin domain containing 1 199 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) ACTGCGTTTTCCGTCCAGGTG 0.383000 6 32 0 0 0.003080 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948278 119948278 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:119948278C>T ENST00000307142.4 + 3 950 c.754C>T c.(754-756)Cct>Tct p.P252S SYNPO2_ENST00000434046.2_Missense_Mutation_p.P252S|SYNPO2_ENST00000429713.2_Missense_Mutation_p.P252S|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 252 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GAAAGCAGACCCTTTCCTGAG 0.507000 4 44 0 0 0.009096 0 0 ALDH1A2 8854 broad.mit.edu 37 15 58258011 58258011 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:58258011G>A ENST00000249750.4 - 8 1580 c.813C>T c.(811-813)atC>atT p.I271I ALDH1A2_ENST00000558231.1_Silent_p.I242I|ALDH1A2_ENST00000559517.1_Silent_p.I175I|ALDH1A2_ENST00000347587.3_Silent_p.I233I|ALDH1A2_ENST00000537372.1_Silent_p.I250I NM_003888.3 NP_003879.2 O94788 AL1A2_HUMAN aldehyde dehydrogenase 1 family, member A2 271 negative regulation of cell proliferation|neural tube development|response to cytokine stimulus nucleus 3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18) NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162) CTGCTTCTTGGATAAGCTTTC 0.443000 7 41 0 0 0.001984 0 0 SLC22A13 9390 broad.mit.edu 37 3 38307648 38307648 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:38307648C>T ENST00000311856.4 + 1 346 c.297C>T c.(295-297)ctC>ctT p.L99L SLC22A13_ENST00000450935.2_Silent_p.L58L NM_004256.3 NP_004247.2 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion/urate transporter), member 13 99 integral to plasma membrane organic cation transmembrane transporter activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) AGGACATCCTCAGCCACCGCT 0.587000 8 34 0 0 0.003080 0 0 NDUFA13 51079 broad.mit.edu 37 19 19626945 19626945 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:19626945C>T ENST00000252576.5 + 1 147 c.147C>T c.(145-147)ttC>ttT p.F49F 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 TCCGGGACTTCCTAGCCGTGC 0.627000 6 36 0 0 0.001984 0 0 SLAIN1 122060 broad.mit.edu 37 13 78320899 78320899 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:78320899C>T ENST00000466548.1 + 5 1127 c.1101C>T c.(1099-1101)tcC>tcT p.S367S SLAIN1_ENST00000351546.3_Silent_p.S104S|SLAIN1_ENST00000465831.1_3'UTR|SLAIN1_ENST00000418532.1_Silent_p.S148S|SLAIN1_ENST00000488699.1_Silent_p.S225S|SLAIN1_ENST00000358679.3_Silent_p.S104S|SLAIN1_ENST00000267219.8_Silent_p.S148S|SLAIN1_ENST00000314070.5_Intron NM_001242868.1 NP_001229797.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 367 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) GCCCCAGTTCCCAGTATTTTC 0.473000 36 78 0 0 0.005524 0 0 RORC 6097 broad.mit.edu 37 1 151787500 151787500 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:151787500C>T ENST00000356728.6 - 4 791 c.637G>A c.(637-639)Gag>Aag p.E213K RORC_ENST00000318247.6_Missense_Mutation_p.E234K|RORC_ENST00000392697.3_Missense_Mutation_p.E288K NM_001001523.1 NP_001001523.1 P51449 RORG_HUMAN RAR-related orphan receptor C 234 Hinge (Potential). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) CTGTGTTCCTCAAAACGAAGT 0.617000 8 34 0 0 0.003080 0 0 IZUMO2 126123 broad.mit.edu 37 19 50657857 50657857 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:50657857G>A ENST00000293405.3 - 6 623 c.623_splice c.e6+1 p.S208_splice NM_152358.2 NP_689571.2 Q6UXV1 IZUM2_HUMAN IZUMO family member 2 208 integral to membrane cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 7 GATGACTCACGAGACCACGAT 0.567000 7 37 0 0 0.001984 0 0 GFRA3 2676 broad.mit.edu 37 5 137600092 137600092 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:137600092C>T ENST00000274721.3 - 2 483 c.237G>A c.(235-237)gaG>gaA p.E79E GFRA3_ENST00000378362.3_Silent_p.E79E NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 79 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GGACCGAAGGCTCCTCTGAGG 0.607000 18 24 0 0 0.008871 0 0 CELSR3 1951 broad.mit.edu 37 3 48677785 48677785 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:48677785C>T ENST00000544264.1 - 35 9528 c.9248G>A c.(9247-9249)cGg>cAg p.R3083Q CELSR3_ENST00000164024.4_Missense_Mutation_p.R3078Q Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 3078 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCTCAGTTGCCGCCGGAGGAG 0.647000 20 127 0 0 0.007413 0 0 OR4K17 390436 broad.mit.edu 37 14 20586023 20586023 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:20586023G>A ENST00000315543.4 + 1 458 c.458G>A c.(457-459)aGa>aAa p.R153K NM_001004715.1 NP_001004715.1 Q8NGC6 OR4KH_HUMAN olfactory receptor, family 4, subfamily K, member 17 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) GCTTTTGACAGATATGTGGCC 0.448000 11 71 0 0 0.010729 0 0 COL12A1 1303 broad.mit.edu 37 6 75858121 75858121 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:75858121G>A ENST00000322507.8 - 22 4549 c.4240C>T c.(4240-4242)Cga>Tga p.R1414* COL12A1_ENST00000345356.6_Nonsense_Mutation_p.R250*|COL12A1_ENST00000416123.2_Nonsense_Mutation_p.R1414*|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.R1414* NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1414 Fibronectin type-III 9. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ACCTTATATCGATCCACACTG 0.433000 9 45 0 0 0.006214 0 0 NBEA 26960 broad.mit.edu 37 13 35758160 35758160 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:35758160C>T ENST00000540320.1 + 30 5413 c.4879C>T c.(4879-4881)Ctt>Ttt p.L1627F NBEA_ENST00000310336.4_Missense_Mutation_p.L1627F|NBEA_ENST00000400445.3_Missense_Mutation_p.L1627F|NBEA_ENST00000379939.2_Missense_Mutation_p.L1624F Q8NFP9 NBEA_HUMAN neurobeachin 1627 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) CCATGGATTCCTTGCCAAGTT 0.413000 7 41 0 0 0.004482 0 0 C1S 716 broad.mit.edu 37 12 7177170 7177170 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:7177170C>T ENST00000406697.1 + 15 1910 c.1282C>T c.(1282-1284)Ccc>Tcc p.P428S C1S_ENST00000495061.1_3'UTR|C1S_ENST00000402681.3_Missense_Mutation_p.P261S|C1S_ENST00000360817.5_Missense_Mutation_p.P428S|C1S_ENST00000328916.3_Missense_Mutation_p.P428S P09871 C1S_HUMAN complement component 1, s subcomponent 428 complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) CTGTGGAGTCCCCAGAGAACC 0.458000 21 67 0 0 0.003330 0 0 GUCY1A3 2982 broad.mit.edu 37 4 156634625 156634625 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:156634625G>A ENST00000296518.7 + 7 1671 c.1462G>A c.(1462-1464)Gtt>Att p.V488I GUCY1A3_ENST00000393832.3_Missense_Mutation_p.V230I|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.V488I|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.V488I|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.V488I|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.V488I|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.V488I Q02108 GCYA3_HUMAN guanylate cyclase 1, soluble, alpha 3 488 Guanylate cyclase. 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) CTCAGACATCGTTGGGTTCAC 0.537000 11 52 0 0 0.013537 0 0 ZMYM6 9204 broad.mit.edu 37 1 35476593 35476593 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:35476593G>A ENST00000357182.4 - 9 1334 c.1107C>T c.(1105-1107)ccC>ccT p.P369P ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Silent_p.P369P|ZMYM6_ENST00000487874.1_Silent_p.P369P NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger, MYM-type 6 369 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) CCTGAGACAGGGGCACCGCCG 0.473000 12 48 0 0 0.013537 0 0 LRP1B 53353 broad.mit.edu 37 2 141777573 141777573 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:141777573C>T ENST00000389484.3 - 12 2859 c.1888G>A c.(1888-1890)Gaa>Aaa p.E630K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 630 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) GAAGCTTTTTCCAGCCTGGCC 0.428000 TSP Lung(27;0.18) 11 74 0 0 0.008291 0 0 TTC12 54970 broad.mit.edu 37 11 113222857 113222857 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:113222857C>T ENST00000393020.1 + 16 1779 c.1374C>T c.(1372-1374)ctC>ctT p.L458L TTC12_ENST00000529221.1_Silent_p.L458L|TTC12_ENST00000483239.2_Silent_p.L464L|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000314756.3_Silent_p.L458L Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 458 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TGGGAAACCTCAGTGCTGAGC 0.512000 11 38 0 0 0.010729 0 0 MDN1 23195 broad.mit.edu 37 6 90397082 90397082 + Missense_Mutation SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:90397082A>G ENST00000369393.3 - 68 11546 c.11431T>C c.(11431-11433)Tgg>Cgg p.W3811R MDN1_ENST00000428876.1_Missense_Mutation_p.W3811R Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 3811 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AGTTTACGCCACCGAATGATC 0.378000 6 47 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9065721 9065721 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9065721G>A ENST00000397910.4 - 3 21928 c.21725C>T c.(21724-21726)tCc>tTc p.S7242F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7244 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 GCTCAGGGAGGAAATTGACTC 0.468000 29 143 0 0 0.009535 0 0 CCL14 6358 broad.mit.edu 37 17 34311406 34311406 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:34311406C>T ENST00000480944.2 - 1 2634 c.228G>A c.(226-228)gaG>gaA p.E76E CCL14_ENST00000394509.4_Silent_p.E54E|CCL14_ENST00000435911.2_Silent_p.E70E|CCL14_ENST00000536149.1_Silent_p.E70E|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000586216.1_Silent_p.E54E|CTB-186H2.3_ENST00000593057.1_Intron Q16627 CCL14_HUMAN chemokine (C-C motif) ligand 14 54 cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation extracellular space chemokine activity|signal transducer activity large_intestine(1)|lung(6) 7 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGCTGTTGGTCTCATAGTAAT 0.577000 20 102 0 0 0.014323 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767784 77767784 + Missense_Mutation SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:77767784A>G ENST00000521891.2 + 10 9075 c.8627A>G c.(8626-8628)aAt>aGt p.N2876S ZFHX4_ENST00000518282.1_Missense_Mutation_p.N2850S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.N2831S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.N2831S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2831 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) ATCCATTTCAATGACAAAGAT 0.512000 HNSCC(33;0.089) 9 34 0 0 0.010729 0 0 TIAM2 26230 broad.mit.edu 37 6 155561752 155561752 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:155561752C>T ENST00000461783.3 + 18 4530 c.3257C>T c.(3256-3258)cCt>cTt p.P1086L TIAM2_ENST00000367174.2_Missense_Mutation_p.P462L|TIAM2_ENST00000529824.2_Missense_Mutation_p.P1086L|TIAM2_ENST00000275246.7_Missense_Mutation_p.P11L|TIAM2_ENST00000528391.2_Missense_Mutation_p.P422L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P1086L|TIAM2_ENST00000360366.4_Missense_Mutation_p.P1110L|TIAM2_ENST00000456877.2_Missense_Mutation_p.P398L|TIAM2_ENST00000318981.5_Missense_Mutation_p.P1086L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1086 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) CAGGATCCTCCTCCGAGGTCT 0.572000 16 52 0 0 0.004007 0 0 ACSM4 341392 broad.mit.edu 37 12 7475053 7475053 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:7475053G>A ENST00000399422.4 + 7 1089 c.1041G>A c.(1039-1041)ggG>ggA p.G347G NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 347 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 TGACCGGAGGGGAGCCACTCA 0.517000 7 39 0 0 0.003080 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41735146 41735146 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:41735146C>T ENST00000352645.4 + 9 1024 c.767C>T c.(766-768)tCa>tTa p.S256L ZC3H7B_ENST00000351589.4_Missense_Mutation_p.S256L NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 272 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding p.S256*(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 GATGACTTCTCAGACGGGGAT 0.657000 11 58 0 0 0.008291 0 0 CPNE2 221184 broad.mit.edu 37 16 57159813 57159813 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:57159813C>T ENST00000535318.2 + 12 1330 c.969C>T c.(967-969)gaC>gaT p.D323D CPNE2_ENST00000537605.1_Silent_p.D221D|CPNE2_ENST00000565874.1_Silent_p.D323D|CPNE2_ENST00000290776.8_Silent_p.D323D|CPNE2_ENST00000565951.1_3'UTR Q96FN4 CPNE2_HUMAN copine II 323 VWFA. central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5) 21 all_neural(199;0.224) ATCCCCTCGACCCTTCCTCTT 0.542000 20 43 0 0 0.007413 0 0 HDGF 3068 broad.mit.edu 37 1 156714136 156714136 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:156714136G>A ENST00000357325.5 - 4 622 c.308C>T c.(307-309)tCc>tTc p.S103F HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.S71F|HDGF_ENST00000368206.5_Missense_Mutation_p.S119F|HDGF_ENST00000368209.5_Missense_Mutation_p.S96F|HDGF_ENST00000537739.1_Missense_Mutation_p.S103F NM_004494.2 NP_004485.1 P51858 HDGF_HUMAN hepatoma-derived growth factor 103 cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) CTTTTTCTGGGAGGACTGCAG 0.607000 85 251 0 0 0.014410 0 0 UBE4A 9354 broad.mit.edu 37 11 118239362 118239362 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:118239362C>T ENST00000252108.3 + 3 269 c.138C>T c.(136-138)agC>agT p.S46S UBE4A_ENST00000431736.2_Silent_p.S46S NM_001204077.1|NM_004788.3 NP_001191006.1|NP_004779.2 Q14139 UBE4A_HUMAN ubiquitination factor E4A 46 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 56 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TCCCAGCTAGCCCAGATGACT 0.428000 43 243 0 0 0.013114 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147183040 147183040 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:147183040C>T ENST00000361727.3 + 11 2200 c.1684C>T c.(1684-1686)Cac>Tac p.H562Y NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 562 EGF-like 1. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TGTGCCCAATCACTGTGAGCA 0.458000 HNSCC(39;0.1) 41 104 0 0 0.009718 0 0 CRTAC1 55118 broad.mit.edu 37 10 99696020 99696020 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:99696020G>A ENST00000370597.3 - 3 683 c.328C>T c.(328-330)Cgg>Tgg p.R110W CRTAC1_ENST00000370591.2_Missense_Mutation_p.R110W|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R110W NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 110 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) TTCCCCTGCCGGTCCCGCAGC 0.622000 7 44 0 0 0.006214 0 0 CCDC86 79080 broad.mit.edu 37 11 60609774 60609774 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:60609774C>T ENST00000227520.5 + 1 231 c.177C>T c.(175-177)ccC>ccT p.P59P RP11-804A23.4_ENST00000538705.1_RNA|RP11-804A23.2_ENST00000539897.1_RNA NM_024098.3 NP_077003.1 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 59 Pro-rich. interspecies interaction between organisms nucleus endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3) 10 TGGGGTCCCCCGAAAGGCCGC 0.692000 10 46 0 0 0.008291 0 0 FYN 2534 broad.mit.edu 37 6 112035566 112035566 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:112035566G>A ENST00000354650.3 - 5 934 c.328C>T c.(328-330)Caa>Taa p.Q110* FYN_ENST00000356013.2_Nonsense_Mutation_p.Q110*|FYN_ENST00000368667.2_Nonsense_Mutation_p.Q110*|FYN_ENST00000368682.3_Nonsense_Mutation_p.Q110*|FYN_ENST00000538466.1_Nonsense_Mutation_p.Q110*|FYN_ENST00000229470.5_Intron|FYN_ENST00000229471.4_Nonsense_Mutation_p.Q110*|FYN_ENST00000368678.4_Nonsense_Mutation_p.Q110* NM_002037.5 NP_002028.1 P06241 FYN_HUMAN FYN oncogene related to SRC, FGR, YES 110 SH3. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 30 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) TTCAATATTTGAAATTTTTCT 0.438000 8 41 0 0 0.006214 0 0 DCTN1 1639 broad.mit.edu 37 2 74593086 74593086 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:74593086G>A ENST00000361874.3 - 24 3137 c.2820C>T c.(2818-2820)ggC>ggT p.G940G DCTN1_ENST00000409438.1_Silent_p.G806G|DCTN1_ENST00000409868.1_Silent_p.G923G|DCTN1_ENST00000407639.2_Silent_p.G806G|DCTN1_ENST00000394003.3_Silent_p.G933G|DCTN1_ENST00000409240.1_Silent_p.G903G|DCTN1_ENST00000409567.3_Silent_p.G920G NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 940 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 TCAAACCCAGGCCTTCAGCAT 0.537000 25 89 0 0 0.004656 0 0 DNAH9 1770 broad.mit.edu 37 17 11642268 11642268 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:11642268G>A ENST00000262442.3 + 29 5954 c.5886G>A c.(5884-5886)ctG>ctA p.L1962L DNAH9_ENST00000454412.2_Silent_p.L1962L NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1962 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) AGATCAGCCTGAATCCTTCTG 0.478000 7 62 0 0 0.003080 0 0 EMC8 10328 broad.mit.edu 37 16 85832894 85832894 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:85832894C>T ENST00000253457.3 - 1 252 c.8G>A c.(7-9)gGg>gAg p.G3E EMC8_ENST00000435200.2_Missense_Mutation_p.G3E NM_006067.4 NP_006058.1 ER membrane protein complex subunit 8 CAGTTTCACCCCGGGCATGCT 0.726000 3 9 0 0 0.004672 0 0 PIWIL2 55124 broad.mit.edu 37 8 22140749 22140749 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:22140749G>A ENST00000356766.6 + 5 776 c.628G>A c.(628-630)Gaa>Aaa p.E210K PIWIL2_ENST00000521356.1_Missense_Mutation_p.E210K|PIWIL2_ENST00000454009.2_Missense_Mutation_p.E210K NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 210 DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) GGAACACAAGGAAAAGTAAGT 0.522000 7 31 0 0 0.001984 0 0 STYK1 55359 broad.mit.edu 37 12 10777432 10777432 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:10777432G>A ENST00000075503.3 - 8 1264 c.744C>T c.(742-744)ttC>ttT p.F248F NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 248 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CATCCCCATGGAACAAATGCT 0.478000 HNSCC(73;0.22) 19 103 0 0 0.012319 0 0 MYH2 4620 broad.mit.edu 37 17 10447086 10447086 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:10447086G>A ENST00000245503.5 - 8 1067 c.683C>T c.(682-684)cCc>cTc p.P228L MYH2_ENST00000397183.2_Missense_Mutation_p.P228L|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.P228L NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 228 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(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 CTCCAGTAGGGGGTTGGCACT 0.522000 9 47 0 0 0.008291 0 0 KCNMA1 3778 broad.mit.edu 37 10 78870041 78870041 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:78870041C>T ENST00000286627.5 - 8 1973 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K KCNMA1_ENST00000404771.3_Missense_Mutation_p.E341K|KCNMA1_ENST00000354353.5_Missense_Mutation_p.E341K|KCNMA1_ENST00000372443.1_Missense_Mutation_p.E341K|KCNMA1_ENST00000372440.1_Missense_Mutation_p.E341K|KCNMA1_ENST00000286628.8_Missense_Mutation_p.E341K|KCNMA1_ENST00000404857.1_Missense_Mutation_p.E341K|KCNMA1_ENST00000406533.3_Missense_Mutation_p.E341K NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 341 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TAGACACATTCCCAGTAGGTG 0.453000 28 194 0 0 0.010818 0 0 SP110 3431 broad.mit.edu 37 2 231067390 231067390 + Missense_Mutation SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:231067390A>G ENST00000258381.6 - 9 1030 c.953T>C c.(952-954)gTt>gCt p.V318A SP110_ENST00000338556.3_Intron|SP110_ENST00000358662.4_Missense_Mutation_p.V318A|SP110_ENST00000540870.1_Missense_Mutation_p.V324A|SP110_ENST00000392048.3_Missense_Mutation_p.V316A|SP110_ENST00000258382.5_Missense_Mutation_p.V318A NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 318 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) CTTTTGAGGAACCTGATCCAC 0.453000 18 111 0 0 0.012319 0 0 CACNA1B 774 broad.mit.edu 37 9 140990947 140990947 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:140990947C>T ENST00000277549.5 + 37 5257 c.2688C>T c.(2686-2688)ctC>ctT p.L896L CACNA1B_ENST00000371357.1_Silent_p.L1701L|CACNA1B_ENST00000371365.2_Silent_p.L66L|CACNA1B_ENST00000277551.2_Silent_p.L1702L|CACNA1B_ENST00000371363.1_Silent_p.L1700L|CACNA1B_ENST00000371372.1_Silent_p.L1702L|CACNA1B_ENST00000371355.4_Silent_p.L1703L Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 1702 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TGTTGAACCTCTTTGTGGCTG 0.567000 17 80 0 0 0.007413 0 0 DCC 1630 broad.mit.edu 37 18 50278616 50278616 + Missense_Mutation SNP G G C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:50278616G>C ENST00000442544.2 + 2 900 c.284G>C c.(283-285)gGg>gCg p.G95A DCC_ENST00000412726.1_5'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 95 Ig-like C2-type 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CTTTCAAATGGGTCTCTGCTG 0.463000 11 93 0 0 0.013537 0 0 C9orf3 84909 broad.mit.edu 37 9 97718274 97718274 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:97718274C>T ENST00000375315.2 + 8 1849 c.1849C>T c.(1849-1851)Cat>Tat p.H617Y C9orf3_ENST00000297979.5_Missense_Mutation_p.H518Y NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 617 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GCACACATTTCATGGACAGCT 0.393000 13 86 0 0 0.003163 0 0 STON1 11037 broad.mit.edu 37 2 48822421 48822421 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:48822421G>A ENST00000309835.3 + 3 2198 c.2188G>A c.(2188-2190)Ggt>Agt p.G730S STON1-GTF2A1L_ENST00000394754.1_Intron|STON1-GTF2A1L_ENST00000405008.1_Intron|STON1-GTF2A1L_ENST00000394751.3_Intron|STON1-GTF2A1L_ENST00000309827.2_Intron|STON1_ENST00000406226.1_Missense_Mutation_p.G730S|STON1_ENST00000404752.1_Missense_Mutation_p.G730S|STON1-GTF2A1L_ENST00000402114.2_Intron stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AGATAAAATTGGTGACTGCAT 0.393000 5 13 0 0 0.001168 0 0 NAA11 84779 broad.mit.edu 37 4 80246900 80246900 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:80246900G>A ENST00000286794.4 - 1 304 c.132C>T c.(130-132)atC>atT p.I44I NM_032693.2 NP_116082.1 Q9BSU3 NAA11_HUMAN N(alpha)-acetyltransferase 11, NatA catalytic subunit 44 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 CATCCTCAGCGATGTAAGAAA 0.488000 16 91 0 0 0.004990 0 0 MYH8 4626 broad.mit.edu 37 17 10300222 10300222 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:10300222C>T ENST00000403437.2 - 31 4354 c.4260G>A c.(4258-4260)acG>acA p.T1420T CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1420 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 GCCGCTGCTTCGTCTTCTCAA 0.488000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 13 56 0 0 0.003163 0 0 SYT1 6857 broad.mit.edu 37 12 79679661 79679661 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:79679661G>A ENST00000261205.4 + 5 918 c.261G>A c.(259-261)aaG>aaA p.K87K SYT1_ENST00000393240.3_Silent_p.K87K|SYT1_ENST00000552744.1_Silent_p.K87K|SYT1_ENST00000457153.2_Silent_p.K87K NM_005639.2 NP_005630.1 P21579 SYT1_HUMAN synaptotagmin I 87 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 TGTTCAAAAAGAAAAACAAGA 0.388000 4 44 0 0 0.009096 0 0 AQP2 359 broad.mit.edu 37 12 50349325 50349325 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:50349325G>A ENST00000199280.3 + 4 835 c.750G>A c.(748-750)gaG>gaA p.E250E RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA NM_000486.5 NP_000477.1 P41181 AQP2_HUMAN aquaporin 2 (collecting duct) 250 cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2) 10 AGGAGCGCGAGGTGCGACGGC 0.697000 7 26 0 0 0.001984 0 0 ITGA7 3679 broad.mit.edu 37 12 56094741 56094741 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:56094741G>A ENST00000257880.7 - 4 831 c.612C>T c.(610-612)gcC>gcT p.A204A ITGA7_ENST00000394229.2_Silent_p.A204A|ITGA7_ENST00000452168.2_Silent_p.A107A|ITGA7_ENST00000257879.6_Silent_p.A204A|ITGA7_ENST00000347027.6_Silent_p.A204A|ITGA7_ENST00000394230.2_Silent_p.A204A|ITGA7_ENST00000553804.1_Silent_p.A204A|ITGA7_ENST00000555728.1_Silent_p.A204A Q13683 ITA7_HUMAN integrin, alpha 7 204 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CAGGGGAGAAGGCGGCAGCTG 0.582000 9 36 0 0 0.004482 0 0 CTNNA2 1496 broad.mit.edu 37 2 80874951 80874951 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:80874951C>T ENST00000466387.1 + 22 3396 c.2672C>T c.(2671-2673)tCg>tTg p.S891L CTNNA2_ENST00000541047.1_Missense_Mutation_p.S891L|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S939L|CTNNA2_ENST00000540488.1_Missense_Mutation_p.S846L|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S925L|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S891L|CTNNA2_ENST00000343114.3_Missense_Mutation_p.S570L P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 939 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AAACACATTTCGCCTGTACAG 0.403000 14 122 0 0 0.001855 0 0 STARD4 134429 broad.mit.edu 37 5 110836762 110836762 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:110836762G>A ENST00000296632.3 - 5 469 c.335C>T c.(334-336)tCc>tTc p.S112F STARD4_ENST00000512160.1_Intron|STARD4_ENST00000509887.1_3'UTR|STARD4_ENST00000502322.1_Missense_Mutation_p.S112F|STARD4_ENST00000511569.1_5'UTR NM_139164.1 NP_631903.1 Q96DR4 STAR4_HUMAN StAR-related lipid transfer (START) domain containing 4 112 START. lipid transport lipid binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1) 12 all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248) OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138) TTCTCTTGGGGAAATTATATT 0.353000 20 107 0 0 0.012319 0 0 PPFIA1 8500 broad.mit.edu 37 11 70228206 70228206 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:70228206G>A ENST00000253925.7 + 27 3778 c.3563G>A c.(3562-3564)gGa>gAa p.G1188E AP000487.5_ENST00000500185.2_RNA|PPFIA1_ENST00000530548.1_3'UTR|AP000487.5_ENST00000530690.1_RNA|AP000487.5_ENST00000524619.1_RNA NM_003626.3 NP_003617.1 Q13136 LIPA1_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 1188 cell-matrix adhesion cytoplasm protein binding|signal transducer activity breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 65 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) AATGTATCAGGAACACAGAGG 0.498000 OREG0021174 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 21 0 0 0.009096 0 0 MYH7 4625 broad.mit.edu 37 14 23890220 23890220 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:23890220C>T ENST00000355349.3 - 26 3445 c.3283G>A c.(3283-3285)Gag>Aag p.E1095K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1095 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) TGTTCATCCTCAATCCTTGCG 0.587000 15 77 0 0 0.007413 0 0 IKZF1 10320 broad.mit.edu 37 7 50468256 50468256 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:50468256C>T ENST00000331340.3 + 8 1646 c.1491C>T c.(1489-1491)taC>taT p.Y497Y IKZF1_ENST00000438033.1_Silent_p.Y410Y|IKZF1_ENST00000357364.4_Silent_p.Y410Y|IKZF1_ENST00000343574.5_Silent_p.Y410Y|IKZF1_ENST00000349824.4_Silent_p.Y354Y|IKZF1_ENST00000439701.1_Silent_p.Y455Y|IKZF1_ENST00000359197.5_Silent_p.Y455Y|IKZF1_ENST00000346667.4_Silent_p.Y267Y|IKZF1_ENST00000440768.2_3'UTR NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 497 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(28) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TGTGCGGCTACCACAGCCAGG 0.617000 """D,T""" BCL6 """ALL, DLBCL""" 5 28 0 0 0.001168 0 0 CNTN5 53942 broad.mit.edu 37 11 100061868 100061868 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:100061868C>T ENST00000524871.1 + 14 1881 c.1591C>T c.(1591-1593)Ctt>Ttt p.L531F CNTN5_ENST00000528682.1_Missense_Mutation_p.L531F|CNTN5_ENST00000527185.1_Missense_Mutation_p.L531F|CNTN5_ENST00000279463.3_Missense_Mutation_p.L531F|CNTN5_ENST00000418526.2_Missense_Mutation_p.L457F NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 531 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) AATAGCTATTCTTCCAGACGG 0.363000 9 19 0 0 0.006214 0 0 CDH22 64405 broad.mit.edu 37 20 44828153 44828153 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:44828153G>A ENST00000372262.3 - 7 1732 c.1332C>T c.(1330-1332)atC>atT p.I444I CDH22_ENST00000537909.1_Silent_p.I444I NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 444 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) TGTCCGCATCGATATCGAAGA 0.632000 21 41 0 0 0.002780 0 0 TNXB 7148 broad.mit.edu 37 6 32021267 32021267 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:32021267C>T ENST00000375244.3 - 25 8890 c.8689G>A c.(8689-8691)Gtc>Atc p.V2897I TNXB_ENST00000375247.2_Missense_Mutation_p.V2895I P22105 TENX_HUMAN tenascin XB 2944 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 GAGATGGTGACCCCGTCCTCG 0.637000 103 670 0 0 0.014410 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473333 22473333 + RNA SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:22473333A>G ENST00000557788.2 - 0 20 CCAGGAGGAGAAAGAACCACA 0.512000 5 51 0 0 0.001168 0 0 CERS6 253782 broad.mit.edu 37 2 169622848 169622848 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:169622848C>T ENST00000392687.4 + 10 1219 c.1019C>T c.(1018-1020)cCt>cTt p.P340L CERS6_ENST00000305747.6_Intron NM_001256126.1 NP_001243055.1 Q6ZMG9 CERS6_HUMAN ceramide synthase 6 334 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity AAGTGGAACCCTTTACATGTA 0.463000 10 61 0 0 0.008291 0 0 PDYN 5173 broad.mit.edu 37 20 1961131 1961131 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:1961131C>T ENST00000217305.2 - 4 828 c.603G>A c.(601-603)gaG>gaA p.E201E PDYN_ENST00000540134.1_Silent_p.E201E|PDYN_ENST00000539905.1_Silent_p.E201E|RP4-684O24.5_ENST00000446562.1_RNA NM_001190892.1|NM_001190898.2|NM_024411.4 NP_001177821.1|NP_001177827.1|NP_077722.1 P01213 PDYN_HUMAN prodynorphin 201 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 TGTACAGGTCCTCATGGCCCA 0.592000 30 89 0 0 0.013726 0 0 NPVF 64111 broad.mit.edu 37 7 25266626 25266626 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:25266626C>T ENST00000222674.2 - 2 204 c.158G>A c.(157-159)gGg>gAg p.G53E NM_022150.3 NP_071433.3 Q9HCQ7 RFRP_HUMAN neuropeptide VF precursor 53 neuropeptide signaling pathway extracellular region|membrane G-protein coupled receptor activity cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1) 15 GCTTCTTTCCCCTTTTGGGTA 0.353000 16 84 0 0 0.004990 0 0 CCDC28A 25901 broad.mit.edu 37 6 139094928 139094928 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:139094928G>A ENST00000332797.6 + 1 272 c.117G>A c.(115-117)agG>agA p.R39R NM_015439.2 NP_056254.1 Q8IWP9 CC28A_HUMAN coiled-coil domain containing 28A 39 autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1) 13 OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306) AGCTGCGGAGGAGCGGGTCCC 0.647000 50 261 0 0 0.014410 0 0 YTHDF1 54915 broad.mit.edu 37 20 61835041 61835041 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:61835041G>A ENST00000370339.3 - 4 592 c.251C>T c.(250-252)cCa>cTa p.P84L YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.P34L NM_017798.3 NP_060268.2 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 84 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 GGTGAGGTATGGAATCGGAGG 0.547000 37 86 0 0 0.005524 0 0 SLC5A8 160728 broad.mit.edu 37 12 101603573 101603573 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:101603573G>A ENST00000536262.2 - 1 612 c.54C>T c.(52-54)ttC>ttT p.F18F NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 18 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 GCATGCCCGCGAACACCACGT 0.687000 6 37 0 0 0.001984 0 0 CYP4A11 1579 broad.mit.edu 37 1 47399628 47399628 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:47399628G>A ENST00000310638.4 - 9 1243 c.1212C>T c.(1210-1212)tcC>tcT p.S404S CYP4A11_ENST00000457840.2_3'UTR|CYP4A11_ENST00000371905.1_Silent_p.S404S|CYP4A11_ENST00000371904.4_Silent_p.S405S|CYP4A11_ENST00000475477.1_5'UTR NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 404 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) CTTTGGGCAAGGAGCGCCCAT 0.562000 8 44 0 0 0.006214 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146345 70146345 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:70146345C>T ENST00000335568.5 + 1 129 c.127C>T c.(127-129)Ctg>Ttg p.L43L UGT2B28_ENST00000511240.1_Silent_p.L43L NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 43 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) GAAGACAATCCTGAAAGAGCT 0.448000 24 57 0 0 0.003954 0 0 ETV6 2120 broad.mit.edu 37 12 12022745 12022745 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:12022745C>T ENST00000396373.4 + 5 1125 c.851C>T c.(850-852)tCc>tTc p.S284F NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 284 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCCCGGCACTCCGTGGATTTC 0.612000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 11 53 0 0 0.010729 0 0 NOX3 50508 broad.mit.edu 37 6 155774610 155774610 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:155774610G>A ENST00000159060.2 - 4 370 c.268C>T c.(268-270)Ccg>Tcg p.P90S NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 90 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) CTCCTCCACGGTCCTCTGCAG 0.383000 32 185 0 0 0.005524 0 0 ORM1 5004 broad.mit.edu 37 9 117086350 117086350 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:117086350G>A ENST00000259396.8 + 3 388 c.310G>A c.(310-312)Ggg>Agg p.G104R ORM1_ENST00000538816.1_3'UTR|ORM1_ENST00000477456.1_3'UTR NM_000607.2 NP_000598.2 P02763 A1AG1_HUMAN orosomucoid 1 104 acute-phase response|regulation of immune system process|transport extracellular space protein binding endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) GCGGGAAAATGGGACCATCTC 0.542000 14 65 0 0 0.003163 0 0 NR1H4 9971 broad.mit.edu 37 12 100904774 100904774 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:100904774G>A ENST00000548884.1 + 4 839 c.298G>A c.(298-300)Gaa>Aaa p.E100K NR1H4_ENST00000392986.3_Missense_Mutation_p.E100K|NR1H4_ENST00000188403.7_Missense_Mutation_p.E110K|NR1H4_ENST00000549996.1_Missense_Mutation_p.E100K|NR1H4_ENST00000551379.1_Missense_Mutation_p.E110K NM_001206977.1|NM_001206979.1|NM_005123.3 NP_001193906.1|NP_001193908.1|NP_005114.1 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 110 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 44 CTACCAGGGAGAAACTGAGGT 0.527000 9 71 0 0 0.008291 0 0 ZAN 7455 broad.mit.edu 37 7 100355938 100355938 + RNA SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:100355938G>A ENST00000542585.1 + 0 3571 ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane 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) GCCAGCTTAAGAATGGCCAGT 0.617000 20 54 0 0 0.008871 0 0 SACS 26278 broad.mit.edu 37 13 23913856 23913856 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:23913856G>A ENST00000382298.3 - 10 4747 c.4159C>T c.(4159-4161)Cct>Tct p.P1387S SACS_ENST00000402364.1_Missense_Mutation_p.P637S|SACS_ENST00000382292.3_Missense_Mutation_p.P1387S NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1387 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) AGTTTAGAAGGATTTTTGCTA 0.353000 12 50 0 0 0.013537 0 0 SCAND3 114821 broad.mit.edu 37 6 28543880 28543880 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:28543880C>T ENST00000452236.2 - 3 1219 c.602G>A c.(601-603)aGc>aAc p.S201N SCAND3_ENST00000530247.1_5'UTR NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 201 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 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 ACCACCCATGCTTTGAGACAT 0.328000 4 37 0 0 0.000602 0 0 TNXB 7148 broad.mit.edu 37 6 32024618 32024618 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:32024618G>A ENST00000375244.3 - 23 8089 c.7888C>T c.(7888-7890)Cgc>Tgc p.R2630C TNXB_ENST00000375247.2_Missense_Mutation_p.R2630C P22105 TENX_HUMAN tenascin XB 2690 Fibronectin type-III 18. 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 TCCCCCAGGCGAGGCTTGATG 0.622000 202 1002 0 0 0.014410 0 0 DHRS7C 201140 broad.mit.edu 37 17 9684798 9684798 + Splice_Site SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:9684798C>T ENST00000330255.4 - 2 280 c.e2+1 DHRS7C_ENST00000571134.1_Splice_Site NM_001220493.1 NP_001207422.1 A6NNS2 DRS7C_HUMAN dehydrogenase/reductase (SDR family) member 7C extracellular region binding|oxidoreductase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 15 GAAGACCTTACCTTGCTGGGG 0.542000 8 31 0 0 0.006214 0 0 ACOX1 51 broad.mit.edu 37 17 73945810 73945810 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:73945810G>A ENST00000537812.1 - 10 2001 c.1353C>T c.(1351-1353)ctC>ctT p.L451L ACOX1_ENST00000301608.4_Silent_p.L489L|ACOX1_ENST00000293217.5_Silent_p.L489L NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 489 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 TGGCTGCACGGAGTTTATATG 0.557000 13 58 0 0 0.004007 0 0 OR13C2 392376 broad.mit.edu 37 9 107367196 107367196 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:107367196G>A ENST00000542196.1 - 1 755 c.713C>T c.(712-714)tCc>tTc p.S238F NM_001004481.1 NP_001004481.1 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, member 2 238 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 22 ACAGGTAGAGGAAGCTTTGCT 0.398000 14 69 0 0 0.004007 0 0 ICK 22858 broad.mit.edu 37 6 52878638 52878638 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:52878638G>A ENST00000356971.3 - 10 1463 c.974C>T c.(973-975)cCa>cTa p.P325L ICK_ENST00000350082.5_Missense_Mutation_p.P325L NM_016513.4 NP_057597.2 Q9UPZ9 ICK_HUMAN intestinal cell (MAK-like) kinase 325 intracellular protein kinase cascade|multicellular organismal development cytosol|nucleus ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1) 31 Lung NSC(77;0.103) CTTGGCTGGTGGCTGGGCAGG 0.537000 11 59 0 0 0.013537 0 0 MUC3A 4584 broad.mit.edu 37 7 100551488 100551488 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:100551488C>T ENST00000319509.7 + 1 239 c.239C>T c.(238-240)tCa>tTa p.S80L mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CACATCATTTCATCTTCTCCC 0.483000 23 157 0 0 0.014323 0 0 OR1F1 4992 broad.mit.edu 37 16 3254744 3254744 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:3254744C>T ENST00000304646.2 + 1 498 c.498C>T c.(496-498)ctC>ctT p.L166L AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 TGGCTCCACTCTCATTCTGTG 0.517000 19 80 0 0 0.006122 0 0 IMPG1 3617 broad.mit.edu 37 6 76751792 76751792 + Missense_Mutation SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:76751792G>T ENST00000369950.3 - 2 308 c.119C>A c.(118-120)cCa>cAa p.P40Q IMPG1_ENST00000369963.3_Intron NM_001563.2 NP_001554.2 Q17R60 IMPG1_HUMAN interphotoreceptor matrix proteoglycan 1 40 visual perception proteinaceous extracellular matrix extracellular matrix structural constituent|receptor activity breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222) TTCATTTCTTGGGGGATTGTC 0.313000 13 100 1.05317e-09 1.09555e-09 0.002450 1 0 NT5C1B 93034 broad.mit.edu 37 2 18766041 18766041 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:18766041C>T ENST00000304081.4 - 4 562 c.462G>A c.(460-462)gaG>gaA p.E154E NT5C1B-RDH14_ENST00000532967.1_Silent_p.E214E|NT5C1B_ENST00000600945.1_Silent_p.E214E|NT5C1B_ENST00000359846.2_Silent_p.E214E NM_033253.3 NP_150278.2 5'-nucleotidase, cytosolic IB endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GGGCCCAGGCCTCCGGATTCT 0.697000 6 43 0 0 0.001984 0 0 PLXNB1 5364 broad.mit.edu 37 3 48454244 48454244 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:48454244C>T ENST00000358536.4 - 25 5030 c.4761G>A c.(4759-4761)cgG>cgA p.R1587R PLXNB1_ENST00000358459.4_Silent_p.R1404R|PLXNB1_ENST00000456774.1_Silent_p.R1404R|PLXNB1_ENST00000296440.6_Silent_p.R1587R|PLXNB1_ENST00000448774.2_Silent_p.R198R NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1587 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CACCCAGGTCCCGGTGCAAGG 0.627000 7 39 0 0 0.003080 0 0 SLC16A12 387700 broad.mit.edu 37 10 91196038 91196038 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:91196038G>A ENST00000341233.4 - 7 1367 c.977C>T c.(976-978)gCc>gTc p.A326V SLC16A12_ENST00000371790.4_Missense_Mutation_p.A356V NM_213606.3 NP_998771.3 Q6ZSM3 MOT12_HUMAN solute carrier family 16, member 12 326 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1) 14 CATTCCCACGGCAAAGAGGTA 0.458000 5 39 0 0 0.003080 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981989 61981989 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:61981989G>A ENST00000370263.4 - 5 995 c.774C>T c.(772-774)tcC>tcT p.S258S CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 258 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) CGGTGAGGCAGGAGATGAGCA 0.602000 27 44 0 0 0.008361 0 0 MYNN 55892 broad.mit.edu 37 3 169496554 169496554 + Splice_Site SNP A A T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:169496554A>T ENST00000349841.5 + 3 929 c.e3-1 MYNN_ENST00000544106.1_Splice_Site|MYNN_ENST00000392733.1_Splice_Site|MYNN_ENST00000356716.4_Splice_Site|RP11-362K14.5_ENST00000602342.1_RNA NM_018657.4 NP_061127.1 Q9NPC7 MYNN_HUMAN myoneurin nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197) Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676) GTTTCCTTGCAGTTGGAATGT 0.343000 27 117 0 0 0.004656 0 0 PCDH11X 27328 broad.mit.edu 37 X 91133285 91133285 + Silent SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:91133285T>C ENST00000373094.1 + 2 2891 c.2046T>C c.(2044-2046)taT>taC p.Y682Y PCDH11X_ENST00000298274.8_Silent_p.Y682Y|PCDH11X_ENST00000361724.1_Silent_p.Y682Y|PCDH11X_ENST00000373097.1_Silent_p.Y682Y|PCDH11X_ENST00000361655.2_Silent_p.Y682Y|PCDH11X_ENST00000373088.1_Silent_p.Y682Y|PCDH11X_ENST00000406881.1_Silent_p.Y682Y|PCDH11X_ENST00000504220.1_Silent_p.Y682Y|PCDH11X_ENST00000395337.2_Silent_p.Y682Y NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 682 Cadherin 7. 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 ACTGTTCTTATGAATTGGTTC 0.423000 24 37 0 0 0.002780 0 0 GPX5 2880 broad.mit.edu 37 6 28497304 28497304 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:28497304C>T ENST00000412168.2 + 2 253 c.164C>T c.(163-165)tCc>tTc p.S55F GPX5_ENST00000469384.1_Missense_Mutation_p.S55F|GPX5_ENST00000442674.2_3'UTR NM_001509.2 NP_001500.1 O75715 GPX5_HUMAN glutathione peroxidase 5 (epididymal androgen-related protein) 55 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) GAATATGTTTCCTTCAAGCAG 0.423000 18 91 0 0 0.007413 0 0 DNAH5 1767 broad.mit.edu 37 5 13868074 13868074 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:13868074C>T ENST00000265104.4 - 25 3966 c.3862G>A c.(3862-3864)Gga>Aga p.G1288R CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1288 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATCAGAAGTCCATATCTGTTA 0.388000 Kartagener syndrome 12 28 0 0 0.010729 0 0 ZNF615 284370 broad.mit.edu 37 19 52497966 52497966 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:52497966G>A ENST00000602063.1 - 6 712 c.363C>T c.(361-363)ttC>ttT p.F121F ZNF615_ENST00000594083.1_Silent_p.F132F|ZNF615_ENST00000598071.1_Silent_p.F132F|ZNF615_ENST00000391795.3_Silent_p.F126F|ZNF615_ENST00000376716.5_Silent_p.F121F Q8N8J6 ZN615_HUMAN zinc finger protein 615 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 42 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) GCTTCAGCAGGAAATGACCTT 0.343000 12 27 0 0 0.001855 0 0 AK5 26289 broad.mit.edu 37 1 78024300 78024300 + Missense_Mutation SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:78024300G>T ENST00000344720.5 + 14 2582 c.1556G>T c.(1555-1557)gGa>gTa p.G519V AK5_ENST00000354567.2_Missense_Mutation_p.G545V|AK5_ENST00000478255.1_Missense_Mutation_p.G60V NM_012093.3 NP_036225.2 Q9Y6K8 KAD5_HUMAN adenylate kinase 5 545 ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction centrosome|cytosol adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1) 40 AATGCAGAGGGAACACCAGAG 0.313000 9 55 0.00448238 0.00462191 0.004482 1 0 SLC16A14 151473 broad.mit.edu 37 2 230910950 230910950 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:230910950C>T ENST00000295190.4 - 4 1350 c.892G>A c.(892-894)Gag>Aag p.E298K NM_152527.4 NP_689740.2 Q7RTX9 MOT14_HUMAN solute carrier family 16, member 14 298 integral to membrane|plasma membrane symporter activity NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948) TACCAGTCCTCGAAGCCCTTC 0.512000 4 36 0 0 0.009096 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266104 41266104 + Missense_Mutation SNP G G A rs28931589 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:41266104G>A ENST00000349496.5 + 3 381 c.101G>A c.(100-102)gGa>gAa p.G34E CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34E|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34E|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27E|CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34E NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 34 G -> E (in PTR).|G -> R (in hepatocellular carcinoma).|G -> V (in hepatoblastoma; dbSNP:rs28931589). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) CTGGACTCTGGAATCCATTCT 0.488000 G34E(AGS_STOMACH) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 7 32 0 0 0.003080 0 0 TMEM132B 114795 broad.mit.edu 37 12 126138387 126138387 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:126138387G>A ENST00000299308.3 + 9 2376 c.2368G>A c.(2368-2370)Gaa>Aaa p.E790K TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 790 integral to membrane p.E790K(1) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) GGTCAAATTCGAACCAAGTAG 0.423000 16 49 0 0 0.006122 0 0 LRRC16B 90668 broad.mit.edu 37 14 24534423 24534423 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:24534423G>A ENST00000342740.5 + 33 3491 c.3337G>A c.(3337-3339)Gag>Aag p.E1113K LRRC16B_ENST00000334420.7_Missense_Mutation_p.E209K NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 1113 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CCCAGAGGAGGAGAGCAGCCT 0.667000 4 20 0 0 0.000602 0 0 CPM 1368 broad.mit.edu 37 12 69265610 69265610 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:69265610C>T ENST00000551568.1 - 4 445 c.385G>A c.(385-387)Gga>Aga p.G129R CPM_ENST00000338356.3_Missense_Mutation_p.G129R|CPM_ENST00000546373.1_Missense_Mutation_p.G129R NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 129 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GCTTCAAATCCATCTGGGTTC 0.438000 19 110 0 0 0.012319 0 0 HDC 3067 broad.mit.edu 37 15 50535170 50535170 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:50535170C>T ENST00000267845.3 - 12 1678 c.1276G>A c.(1276-1278)Gaa>Aaa p.E426K HDC_ENST00000543581.1_Missense_Mutation_p.E393K NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 426 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) TTAGCTATTTCCTTTAACACA 0.473000 13 50 0 0 0.002450 0 0 KIAA1211L 343990 broad.mit.edu 37 2 99448932 99448932 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:99448932G>A ENST00000397899.2 - 5 750 c.419C>T c.(418-420)cCa>cTa p.P140L KIAA1211L_ENST00000462314.1_5'UTR NM_207362.2 NP_997245.2 KIAA1211-like AAGCCCCCCTGGAGGAGGTGG 0.507000 10 48 0 0 0.006214 0 0 SCAND3 114821 broad.mit.edu 37 6 28541016 28541016 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:28541016C>T ENST00000452236.2 - 4 3267 c.2650G>A c.(2650-2652)Gat>Aat p.D884N NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 884 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity 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 tcttccatatcattagccagt 0.368000 10 117 0 0 0.010729 0 0 DIRC1 116093 broad.mit.edu 37 2 189599568 189599568 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:189599568G>A ENST00000308100.4 - 2 350 c.80C>T c.(79-81)tCc>tTc p.S27F AC079613.1_ENST00000431708.1_RNA NM_052952.2 NP_443184.1 Q969H9 DIRC1_HUMAN disrupted in renal carcinoma 1 27 large_intestine(1)|lung(6) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00842)|Epithelial(96;0.102) CAAGTAACAGGAAACAGGCTT 0.532000 17 52 0 0 0.004990 0 0 OR51V1 283111 broad.mit.edu 37 11 5221006 5221006 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:5221006G>A ENST00000321255.1 - 1 924 c.925C>T c.(925-927)Cat>Tat p.H309Y NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATTCTGGTATGAATCTGTTGG 0.388000 12 33 0 0 0.001855 0 0 RBPMS2 348093 broad.mit.edu 37 15 65040755 65040755 + Missense_Mutation SNP C C A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:65040755C>A ENST00000300069.4 - 6 697 c.430G>T c.(430-432)Ggg>Tgg p.G144W RBPMS2_ENST00000560606.1_Missense_Mutation_p.G33W NM_194272.1 NP_919248.1 Q6ZRY4 RBPS2_HUMAN RNA binding protein with multiple splicing 2 144 nucleic acid binding|nucleotide binding breast(1)|large_intestine(3)|lung(3)|prostate(1) 8 AGAGCAGCCCCCATCAGGTCA 0.587000 21 63 0.000295444 0.000305234 0.014323 1 0 C10orf76 79591 broad.mit.edu 37 10 103792895 103792895 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:103792895G>A ENST00000370033.4 - 4 313 c.194C>T c.(193-195)tCt>tTt p.S65F C10orf76_ENST00000311122.5_Missense_Mutation_p.S65F NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 65 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) ACCATCAAGAGATTCCAGCTT 0.438000 16 66 0 0 0.003163 0 0 ATP2B4 493 broad.mit.edu 37 1 203696545 203696545 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:203696545G>A ENST00000357681.5 + 20 4278 c.3155G>A c.(3154-3156)cGa>cAa p.R1052Q ATP2B4_ENST00000367218.3_Missense_Mutation_p.R1052Q|ATP2B4_ENST00000466407.1_3'UTR|ATP2B4_ENST00000341360.2_Missense_Mutation_p.R1052Q|ATP2B4_ENST00000391954.2_Missense_Mutation_p.R1016Q|ATP2B4_ENST00000367219.3_Missense_Mutation_p.R1040Q NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 1052 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) ATACCTACCCGATCCCTGAAG 0.532000 19 73 0 0 0.007413 0 0 MYH1 4619 broad.mit.edu 37 17 10416982 10416982 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:10416982C>T ENST00000226207.5 - 9 860 c.766G>A c.(766-768)Ggt>Agt p.G256S CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 256 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 CCTGTGGTACCGAAGTGGATC 0.393000 4 28 0 0 0.000602 0 0 OR7D4 125958 broad.mit.edu 37 19 9324751 9324751 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9324751C>T ENST00000308682.2 - 1 791 c.763G>A c.(763-765)Gga>Aga p.G255R NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 255 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 ACCCCAAGTCCTGTTCCATAG 0.532000 6 43 0 0 0.001168 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068610 103068610 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:103068610C>T ENST00000264260.2 + 12 2358 c.1769C>T c.(1768-1770)aCt>aTt p.T590I IL18RAP_ENST00000409369.1_Missense_Mutation_p.T448I NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 590 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 ACAGAAACCACTGGGAGGAGC 0.512000 15 83 0 0 0.002450 0 0 LNPEP 4012 broad.mit.edu 37 5 96349452 96349452 + Silent SNP A A C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:96349452A>C ENST00000231368.5 + 12 2828 c.2136A>C c.(2134-2136)ctA>ctC p.L712L LNPEP_ENST00000395770.3_Silent_p.L698L NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 712 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) GGGAAGCACTAATCCATCAGT 0.363000 24 68 0 0 0.014323 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430661 37430661 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:37430661G>A ENST00000374660.1 + 7 767 c.668G>A c.(667-669)gGa>gAa p.G223E ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G223E|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G223E Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 279 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 ACATCTGCAGGAACACCTGAT 0.463000 8 28 0 0 0.003080 0 0 IDO2 169355 broad.mit.edu 37 8 39872851 39872851 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:39872851G>A ENST00000502986.2 + 11 1235 c.993G>A c.(991-993)agG>agA p.R331R IDO2_ENST00000389060.4_Silent_p.R318R|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 318 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 CTTCCCTGAGGGACTACATCC 0.498000 8 36 0 0 0.004482 0 0 KCTD1 284252 broad.mit.edu 37 18 24081143 24081143 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:24081143G>A ENST00000417602.1 - 2 1880 c.1881C>T c.(1879-1881)atC>atT p.I627I KCTD1_ENST00000579973.1_Silent_p.I19I|KCTD1_ENST00000317932.7_Silent_p.I19I|KCTD1_ENST00000580059.1_Silent_p.I19I|KCTD1_ENST00000408011.3_Silent_p.I19I NM_001142730.2 NP_001136202.1 Q719H9 KCTD1_HUMAN potassium channel tetramerization domain containing 1 19 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|voltage-gated potassium channel complex transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3) 12 all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848) Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05) CTGGAGTAGGGATGCCTTGGT 0.512000 22 106 0 0 0.014323 0 0 PDZD2 23037 broad.mit.edu 37 5 31983668 31983668 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:31983668C>T ENST00000438447.1 + 3 1272 c.884C>T c.(883-885)cCa>cTa p.P295L PDZD2_ENST00000282493.3_Missense_Mutation_p.P295L O15018 PDZD2_HUMAN PDZ domain containing 2 295 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 CATAGAATTCCAAAGACAGAT 0.517000 35 108 0 0 0.005524 0 0 CCDC158 339965 broad.mit.edu 37 4 77324294 77324294 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:77324294C>T ENST00000388914.3 - 2 219 c.67G>A c.(67-69)Gga>Aga p.G23R CCDC158_ENST00000504868.1_5'UTR|CCDC158_ENST00000434846.2_Missense_Mutation_p.G23R NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 23 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 CACATACCTCCATTAGATGTG 0.294000 10 23 0 0 0.008291 0 0 NYAP2 57624 broad.mit.edu 37 2 226273743 226273743 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:226273743G>A ENST00000272907.6 + 2 560 c.147G>A c.(145-147)ttG>ttA p.L49L NYAP2_ENST00000409269.2_Silent_p.L49L NM_020864.1 NP_065915.1 Q9P242 K1486_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 49 ATGATCGCTTGAGAAATGAAA 0.373000 7 37 0 0 0.001984 0 0 C3 718 broad.mit.edu 37 19 6685057 6685057 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:6685057C>T ENST00000245907.6 - 30 4003 c.3911G>A c.(3910-3912)aGc>aAc p.S1304N NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1304 Cleavage; by factor I. 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) GATCTTGGAGCTGCGGCTGGG 0.582000 6 31 0 0 0.001984 0 0 MTERFD1 51001 broad.mit.edu 37 8 97270800 97270800 + Missense_Mutation SNP C C T rs148966759 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:97270800C>T ENST00000523821.1 - 2 238 c.119G>A c.(118-120)gGc>gAc p.G40D MTERFD1_ENST00000287025.3_Missense_Mutation_p.G40D Q96E29 MTER1_HUMAN MTERF domain containing 1 40 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 24 Breast(36;5.16e-05) AGCAGAAAAGCCATGTAACAG 0.428000 18 99 0 0 0.006122 0 0 ITGA2 3673 broad.mit.edu 37 5 52371124 52371124 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:52371124C>T ENST00000296585.5 + 23 2958 c.2815C>T c.(2815-2817)Cac>Tac p.H939Y NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 939 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TGCTGAAATTCACTTAACAAG 0.393000 5 28 0 0 0.001168 0 0 CXXC11 285093 broad.mit.edu 37 2 242814358 242814358 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:242814358C>T ENST00000343216.3 + 2 679 c.651C>T c.(649-651)ccC>ccT p.P217P NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 217 integral to membrane ACCAGGTGCCCATCGCTGAGG 0.672000 15 51 0 0 0.004007 0 0 RBP3 5949 broad.mit.edu 37 10 48388012 48388012 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:48388012C>T ENST00000224600.4 - 1 2979 c.2866G>A c.(2866-2868)Gag>Aag p.E956K NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 956 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.E956K(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GCCCCCAGCTCGGCAGAGGCA 0.632000 20 65 0 0 0.008871 0 0 HIF3A 64344 broad.mit.edu 37 19 46834519 46834519 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:46834519C>T ENST00000339613.2 + 13 1906 c.1651C>T c.(1651-1653)Cct>Tct p.P551S HIF3A_ENST00000244303.6_Missense_Mutation_p.P538S|HIF3A_ENST00000300862.3_Missense_Mutation_p.P605S|HIF3A_ENST00000600383.1_Missense_Mutation_p.P538S|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000420102.2_Missense_Mutation_p.P556S|HIF3A_ENST00000377670.4_Missense_Mutation_p.P607S|HIF3A_ENST00000472815.1_Intron Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit 607 ODD. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity p.P605S(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 33 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) TCTGCTCTTTCCTCTCAGCCT 0.542000 14 49 0 0 0.004990 0 0 EPPK1 83481 broad.mit.edu 37 8 144940581 144940581 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:144940581G>A ENST00000525985.1 - 2 6912 c.6841C>T c.(6841-6843)Ctg>Ttg p.L2281L P58107 EPIPL_HUMAN epiplakin 1 2281 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) TCCACCGACAGCCTCAGGTTG 0.736000 9 92 0 0 0.004482 0 0 TANC2 26115 broad.mit.edu 37 17 61498822 61498822 + Missense_Mutation SNP T T A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:61498822T>A ENST00000424789.2 + 25 5483 c.5479T>A c.(5479-5481)Tct>Act p.S1827T TANC2_ENST00000389520.4_Missense_Mutation_p.S1837T|RP11-269G24.3_ENST00000583552.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1827 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 GTCGCCAGTGTCTCCAACTCA 0.537000 3 26 0 0 0.004672 0 0 TTLL2 83887 broad.mit.edu 37 6 167754861 167754861 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:167754861G>A ENST00000239587.5 + 3 1561 c.1473G>A c.(1471-1473)gaG>gaA p.E491E NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 491 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGGAAGGAGAGATGAGTGGGC 0.532000 6 56 0 0 0.001168 0 0 NXPE3 91775 broad.mit.edu 37 3 101520777 101520777 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:101520777C>T ENST00000422132.1 + 2 989 c.792C>T c.(790-792)ttC>ttT p.F264F NXPE3_ENST00000273347.5_Silent_p.F264F|NXPE3_ENST00000477909.1_Silent_p.F264F|NXPE3_ENST00000491511.1_Silent_p.F264F neurexophilin and PC-esterase domain family, member 3 TTACCCATTTCAAAGGTGGAT 0.473000 13 93 0 0 0.003163 0 0 SCYL1 57410 broad.mit.edu 37 11 65298163 65298163 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:65298163C>T ENST00000524944.1 + 7 946 c.913C>T c.(913-915)Cct>Tct p.P305S SCYL1_ENST00000527009.1_Missense_Mutation_p.P162S|SCYL1_ENST00000525364.1_Missense_Mutation_p.P305S|SCYL1_ENST00000527630.1_Missense_Mutation_p.P305S|SCYL1_ENST00000533862.1_Missense_Mutation_p.P305S|SCYL1_ENST00000420247.2_Missense_Mutation_p.P305S|SCYL1_ENST00000270176.5_Missense_Mutation_p.P305S|SCYL1_ENST00000279270.6_Missense_Mutation_p.P305S Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 305 Protein kinase. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 GGACGCATTCCCTGAGGATTT 0.597000 24 72 0 0 0.003954 0 0 OSBPL3 26031 broad.mit.edu 37 7 24849512 24849512 + Missense_Mutation SNP C C T rs61756017 byFrequency TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:24849512C>T ENST00000313367.2 - 20 2682 c.2231G>A c.(2230-2232)gGa>gAa p.G744E OSBPL3_ENST00000396429.1_Missense_Mutation_p.G708E|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000409069.1_Missense_Mutation_p.G677E|OSBPL3_ENST00000431825.2_Missense_Mutation_p.G677E|OSBPL3_ENST00000353930.1_Missense_Mutation_p.G708E|OSBPL3_ENST00000352860.1_Missense_Mutation_p.G713E|OSBPL3_ENST00000396431.1_Missense_Mutation_p.G713E NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 744 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 AACCGCTTTTCCACTCCTGTC 0.488000 42 124 0 0 0.010771 0 0 CLCN7 1186 broad.mit.edu 37 16 1500570 1500570 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:1500570G>A ENST00000382745.4 - 17 2150 c.1545C>T c.(1543-1545)atC>atT p.I515I CLCN7_ENST00000448525.1_Silent_p.I491I|CLCN7_ENST00000262318.8_Silent_p.I491I NM_001287.5 NP_001278.1 P51798 CLCN7_HUMAN chloride channel, voltage-sensitive 7 515 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) GCAGGGACGGGATGAAGACCC 0.677000 5 23 0 0 0.000602 0 0 AKAP11 11215 broad.mit.edu 37 13 42873637 42873637 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:42873637C>T ENST00000025301.2 + 8 930 c.755C>T c.(754-756)tCa>tTa p.S252L NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 252 Ser-rich. intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TCAACTTCCTCAGTGAATGTC 0.423000 17 49 0 0 0.006122 0 0 VPRBP 9730 broad.mit.edu 37 3 51517738 51517738 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:51517738G>A ENST00000335891.5 - 1 116 c.107C>T c.(106-108)aCc>aTc p.T36I Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 36 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TTCATACCTGGTAAGGATAGG 0.438000 21 80 0 0 0.014323 0 0 TRBV25-1 28562 broad.mit.edu 37 7 142378840 142378840 + RNA SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:142378840G>A ENST00000390398.3 + 0 145 GCACAGGAAAGAAGATCACTC 0.438000 19 162 0 0 0.008871 0 0 FLG2 388698 broad.mit.edu 37 1 152323829 152323829 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:152323829C>T ENST00000388718.5 - 3 6505 c.6433G>A c.(6433-6435)Gga>Aga p.G2145R FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 2145 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) TGTATAGTTCCCTGTCTCCCG 0.507000 80 300 0 0 0.014410 0 0 CYP4A11 1579 broad.mit.edu 37 1 47403783 47403783 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:47403783C>T ENST00000310638.4 - 2 253 c.222G>A c.(220-222)cgG>cgA p.R74R CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.R74R|CYP4A11_ENST00000371904.4_Silent_p.R74R|CYP4A11_ENST00000475477.1_5'UTR NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 74 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) ATTTCTGAATCCGTTGTAGCT 0.488000 15 77 0 0 0.004007 0 0 SNHG14 104472715 broad.mit.edu 37 15 25449558 25449558 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:25449558C>T ENST00000424208.1 + 0 2339 SNHG14_ENST00000424333.1_RNA|SNORD115-19_ENST00000363098.1_RNA NR_003305.1 ACTTAAAAATCATTCTCAAAA 0.507000 25 144 0 0 0.003330 0 0 KCNH7 90134 broad.mit.edu 37 2 163291874 163291874 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:163291874C>T ENST00000332142.5 - 8 1887 c.1788G>A c.(1786-1788)ggG>ggA p.G596G KCNH7_ENST00000328032.4_Silent_p.G589G NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 596 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) TGTAACGTTTCCCAATTTGCT 0.428000 13 48 0 0 0.002450 0 0 POLE 5426 broad.mit.edu 37 12 133212577 133212577 + Silent SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:133212577T>C ENST00000320574.5 - 42 5755 c.5712A>G c.(5710-5712)acA>acG p.T1904T POLE_ENST00000535270.1_Silent_p.T1877T|POLE_ENST00000434528.3_5'UTR NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1904 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) AGAAAGAAATTGTCAGAGAAT 0.428000 DNA polymerases (catalytic subunits) 11 45 0 0 0.013537 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951534 119951534 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:119951534C>T ENST00000307142.4 + 4 1800 c.1604C>T c.(1603-1605)tCt>tTt p.S535F SYNPO2_ENST00000434046.2_Missense_Mutation_p.S535F|SYNPO2_ENST00000429713.2_Missense_Mutation_p.S535F|SYNPO2_ENST00000448416.2_Intron NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 535 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACCACGACTTCTTACCAAAGA 0.502000 10 33 0 0 0.008291 0 0 SLC37A3 84255 broad.mit.edu 37 7 140035266 140035266 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:140035266C>T ENST00000340308.3 - 12 1240 c.1129G>A c.(1129-1131)Gag>Aag p.E377K SLC37A3_ENST00000326232.9_Silent_p.V477V|SLC37A3_ENST00000447932.2_Silent_p.V461V NM_032295.2 NP_115671.1 Q8NCC5 SPX3_HUMAN solute carrier family 37, member 3 0 carbohydrate transport|transmembrane transport integral to membrane endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3) 24 Melanoma(164;0.0142) ATATTTCCCTCACTATTAATG 0.418000 10 69 0 0 0.006214 0 0 ATP8A1 10396 broad.mit.edu 37 4 42457331 42457331 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:42457331G>A ENST00000381668.5 - 29 3031 c.2800C>T c.(2800-2802)Ctg>Ttg p.L934L ATP8A1_ENST00000264449.10_Silent_p.L919L NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 934 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TTGAAGTCCAGGGCATTCTGA 0.433000 15 40 0 0 0.004990 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94881099 94881099 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:94881099G>A ENST00000289495.5 + 9 2572 c.2356G>A c.(2356-2358)Gaa>Aaa p.E786K PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E786K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E786K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E786K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E786K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E808K NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 786 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CAAAAGACAGGAAGCAGAAAG 0.338000 HNSCC(28;0.073) 11 26 0 0 0.013537 0 0 MUC16 94025 broad.mit.edu 37 19 9080519 9080519 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9080519G>A ENST00000397910.4 - 2 9715 c.9512C>T c.(9511-9513)tCa>tTa p.S3171L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3172 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 TGCCTGGCTTGACATCTTTAT 0.473000 16 118 0 0 0.008871 0 0 TMEM19 55266 broad.mit.edu 37 12 72092798 72092798 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:72092798C>T ENST00000266673.5 + 5 1350 c.756C>T c.(754-756)gcC>gcT p.A252A TMEM19_ENST00000549735.1_Silent_p.A252A NM_018279.3 NP_060749.2 Q96HH6 TMM19_HUMAN transmembrane protein 19 252 integral to membrane large_intestine(1)|lung(8) 9 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) ACATTTCTGCCCCGCAGTGGC 0.453000 11 98 0 0 0.010729 0 0 MYOCD 93649 broad.mit.edu 37 17 12656366 12656366 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:12656366G>A ENST00000425538.1 + 10 1961 c.1761G>A c.(1759-1761)gtG>gtA p.V587V MYOCD_ENST00000395988.1_Silent_p.V491V|MYOCD_ENST00000343344.4_Silent_p.V587V NM_001146312.1|NM_153604.2 NP_001139784.1|NP_705832.1 Q8IZQ8 MYCD_HUMAN myocardin 587 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) AAGTACCTGTGAAAAGACAAA 0.517000 11 66 0 0 0.010729 0 0 KCNN3 3782 broad.mit.edu 37 1 154680526 154680526 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:154680526G>A ENST00000271915.3 - 8 2437 c.2122C>T c.(2122-2124)Cca>Tca p.P708S KCNN3_ENST00000361147.4_Missense_Mutation_p.P403S|KCNN3_ENST00000515643.1_5'UTR|KCNN3_ENST00000358505.2_Missense_Mutation_p.P395S NM_002249.5 NP_002240.3 Q9UGI6 KCNN3_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 713 integral to membrane calmodulin binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1) 28 all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00819) TCGGAGATTGGGGTGTGGGTG 0.607000 34 132 0 0 0.004289 0 0 OR2A25 392138 broad.mit.edu 37 7 143771756 143771756 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:143771756G>A ENST00000408898.2 + 1 482 c.444G>A c.(442-444)tgG>tgA p.W148* NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TGACTTCCTGGATTTTAGGAG 0.458000 28 142 0 0 0.008361 0 0 GALNTL6 442117 broad.mit.edu 37 4 173942764 173942764 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:173942764G>A ENST00000506823.1 + 12 2283 c.1626G>A c.(1624-1626)tgG>tgA p.W542* GALNTL6_ENST00000508122.1_Nonsense_Mutation_p.W525* NM_001034845.2 NP_001030017.2 Q49A17 GLTL6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 542 Ricin B-type lectin. 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 ACCAGCTCTGGGGATACCGGA 0.458000 25 116 0 0 0.008361 0 0 C7orf60 154743 broad.mit.edu 37 7 112462082 112462082 + Missense_Mutation SNP T T A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:112462082T>A ENST00000297145.4 - 5 1100 c.935A>T c.(934-936)cAt>cTt p.H312L NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 312 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 CAGATGCATATGTGAAAATTT 0.388000 15 38 0 0 0.004990 0 0 FLG 2312 broad.mit.edu 37 1 152279804 152279804 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:152279804C>T ENST00000368799.1 - 3 7593 c.7558G>A c.(7558-7560)Gat>Aat p.D2520N FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2520 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GATTGTTCATCGTTACGAGTT 0.587000 Ichthyosis 82 289 0 0 0.014410 0 0 MIR381HG 378881 broad.mit.edu 37 14 101512845 101512845 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:101512845C>T ENST00000553692.1 + 0 28 MIR487B_ENST00000385021.1_RNA CATGTCGAATCGTACAGGGTC 0.488000 14 32 0 0 0.003163 0 0 ZNF215 7762 broad.mit.edu 37 11 6977643 6977643 + Nonsense_Mutation SNP C C T rs142083471 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:6977643C>T ENST00000278319.5 + 7 2023 c.1435C>T c.(1435-1437)Cga>Tga p.R479* ZNF215_ENST00000414517.2_Nonsense_Mutation_p.R479*|ZNF215_ENST00000529903.1_Intron NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 479 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) CTCTCTTATTCGACACCAAAT 0.368000 10 63 0 0 0.013537 0 0 CCDC141 285025 broad.mit.edu 37 2 179720245 179720245 + Silent SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:179720245T>C ENST00000420890.2 - 19 3006 c.2889A>G c.(2887-2889)aaA>aaG p.K963K CCDC141_ENST00000295723.5_Silent_p.K388K NM_173648.3 NP_775919.3 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 388 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) TATTACTAACTTTTTCCATTT 0.284000 6 33 0 0 0.001984 0 0 TNXB 7148 broad.mit.edu 37 6 32012848 32012848 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:32012848C>T ENST00000375244.3 - 32 11063 c.10862G>A c.(10861-10863)aGg>aAg p.R3621K TNXB_ENST00000375247.2_Missense_Mutation_p.R3619K|TNXB_ENST00000451343.1_Missense_Mutation_p.R50K P22105 TENX_HUMAN tenascin XB 3666 Fibronectin type-III 28. 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 GAGGAGGAACCTGTAGGGGGT 0.647000 78 163 0 0 0.014410 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146450 70146450 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:70146450C>T ENST00000335568.5 + 1 234 c.232C>T c.(232-234)Cct>Tct p.P78S UGT2B28_ENST00000511240.1_Missense_Mutation_p.P78S NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 78 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) CGAAGTTTATCCTACATCTTT 0.363000 16 46 0 0 0.003163 0 0 RNF217-AS1 7955 broad.mit.edu 37 6 125232112 125232112 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:125232112C>T ENST00000439075.1 - 0 2633 NR_026876.1 CGGCAAATTTCGACTGCTCCA 0.308000 7 49 0 0 0.006214 0 0 GOLGA6B 55889 broad.mit.edu 37 15 72954598 72954598 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:72954598C>T ENST00000421285.3 + 11 853 c.853C>T c.(853-855)Ccc>Tcc p.P285S NM_018652.4 NP_061122.4 A6NDN3 GOG6B_HUMAN golgin A6 family, member B 285 NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 16 CTCAGCTAAGCCCCCATCCCT 0.522000 21 49 0 0 0.003330 0 0 DPRX 503834 broad.mit.edu 37 19 54140182 54140182 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:54140182C>T ENST00000376650.1 + 3 567 c.516C>T c.(514-516)tgC>tgT p.C172C NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 172 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) CCCAAGTTTGCGCTCCAAGCT 0.443000 27 99 0 0 0.007291 0 0 ZNF761 388561 broad.mit.edu 37 19 53958449 53958449 + RNA SNP T T A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:53958449T>A ENST00000454407.1 + 0 1141 Q86XN6 ZN761_HUMAN zinc finger protein 761 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(134;0.00786) CAGCTCACTCTTAAGGAAACA 0.368000 24 80 0 0 0.003330 0 0 ZNF99 7652 broad.mit.edu 37 19 22940113 22940113 + Missense_Mutation SNP G G A rs74174099 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:22940113G>A ENST00000397104.3 - 6 2217 c.2218C>T c.(2218-2220)Cat>Tat p.H740Y 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) TTTCCAGTATGAATTATCTCA 0.348000 9 31 0 0 0.010729 0 0 SCPEP1 59342 broad.mit.edu 37 17 55078337 55078337 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:55078337C>T ENST00000262288.3 + 11 1171 c.1116C>T c.(1114-1116)ctC>ctT p.L372L NM_021626.2 NP_067639.1 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 372 proteolysis extracellular region serine-type carboxypeptidase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 14 Breast(9;2.86e-08) AGCTGGATCTCATCGTAGATA 0.498000 17 95 0 0 0.010504 0 0 RUFY4 285180 broad.mit.edu 37 2 218940409 218940409 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:218940409C>T ENST00000374155.3 + 8 1664 c.1254C>T c.(1252-1254)acC>acT p.T418T RUFY4_ENST00000463872.1_3'UTR|RUFY4_ENST00000441828.2_3'UTR|RUFY4_ENST00000344321.7_Silent_p.T398T Q6ZNE9 RUFY4_HUMAN RUN and FYVE domain containing 4 398 metal ion binding endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Renal(207;0.0915) Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CAGAAGTGACCCTTGTGGCCA 0.572000 16 79 0 0 0.008871 0 0 SLC4A1 6521 broad.mit.edu 37 17 42335031 42335031 + Missense_Mutation SNP A A C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:42335031A>C ENST00000262418.6 - 12 1582 c.1427T>G c.(1426-1428)tTc>tGc p.F476C NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 476 Membrane (anion exchange). bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) AACTACCGAGAAGAAGGCTTC 0.612000 4 20 0 0 0.009096 0 0 CACNG7 59284 broad.mit.edu 37 19 54444813 54444813 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:54444813C>T ENST00000391767.1 + 5 726 c.514C>T c.(514-516)Cat>Tat p.H172Y CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.H172Y|CACNG7_ENST00000222212.2_Missense_Mutation_p.H172Y P62955 CCG7_HUMAN calcium channel, voltage-dependent, gamma subunit 7 172 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0711) GCAGTATTTTCATTATCGCTA 0.532000 34 124 0 0 0.003755 0 0 OR7G2 390882 broad.mit.edu 37 19 9213689 9213689 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9213689C>T ENST00000305456.2 - 1 293 c.294G>A c.(292-294)acG>acA p.T98T NM_001005193.1 NP_001005193.1 Q8NG99 OR7G2_HUMAN olfactory receptor, family 7, subfamily G, member 2 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3) 16 TCTTTGGGATCGTGGTTGTGC 0.488000 12 78 0 0 0.013537 0 0 SLC38A4 55089 broad.mit.edu 37 12 47181792 47181792 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:47181792C>T ENST00000447411.1 - 4 439 c.233G>A c.(232-234)gGa>gAa p.G78E SLC38A4_ENST00000266579.4_Missense_Mutation_p.G78E NM_001143824.1 NP_001137296.1 Q969I6 S38A4_HUMAN solute carrier family 38, member 4 78 cellular nitrogen compound metabolic process|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1) 21 Lung SC(27;0.192)|Renal(347;0.236) TGAAGACATTCCAAAGGAAGT 0.428000 8 41 0 0 0.006214 0 0 C2orf80 389073 broad.mit.edu 37 2 209047720 209047720 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:209047720C>T ENST00000341287.4 - 4 370 c.175G>A c.(175-177)Gaa>Aaa p.E59K C2orf80_ENST00000453017.1_Missense_Mutation_p.E59K|C2orf80_ENST00000451346.1_Missense_Mutation_p.E40K NM_001099334.2 NP_001092804.1 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 59 endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 GTTAAGTCTTCTGAGGGATCC 0.458000 34 106 0 0 0.005524 0 0 OR51D1 390038 broad.mit.edu 37 11 4661144 4661144 + Missense_Mutation SNP T T G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:4661144T>G ENST00000357605.2 + 1 200 c.124T>G c.(124-126)Ttc>Gtc p.F42V NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 42 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TTGGCTGGCTTTCCCACTGTG 0.517000 8 48 0 0 0.003080 0 0 DNAH9 1770 broad.mit.edu 37 17 11687739 11687739 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:11687739C>T ENST00000262442.3 + 41 8012 c.7944C>T c.(7942-7944)atC>atT p.I2648I DNAH9_ENST00000454412.2_Silent_p.I2648I NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 2648 AAA 3 (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) AGAAATCCATCCCCCCACTGA 0.532000 30 143 0 0 0.013726 0 0 BRWD3 254065 broad.mit.edu 37 X 79980546 79980546 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:79980546G>A ENST00000373275.4 - 15 1623 c.1407C>T c.(1405-1407)ttC>ttT p.F469F NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 469 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 CTTCTAGAACGAATACTTCAT 0.378000 8 10 0 0 0.004482 0 0 SPTA1 6708 broad.mit.edu 37 1 158632546 158632546 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:158632546C>T ENST00000368148.3 - 17 2590 c.2410G>A c.(2410-2412)Gat>Aat p.D804N SPTA1_ENST00000368147.3_Missense_Mutation_p.D804N NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 804 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) GCCTCCTCATCCTCTGTGTCT 0.517000 9 64 0 0 0.010729 0 0 KIAA0430 9665 broad.mit.edu 37 16 15729671 15729671 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:15729671G>A ENST00000396368.3 - 3 879 c.673C>T c.(673-675)Ccc>Tcc p.P225S KIAA0430_ENST00000602337.1_Missense_Mutation_p.P225S|KIAA0430_ENST00000551742.1_Missense_Mutation_p.P225S|KIAA0430_ENST00000548025.1_Missense_Mutation_p.P225S|KIAA0430_ENST00000540441.2_Missense_Mutation_p.P225S|KIAA0430_ENST00000344181.3_Missense_Mutation_p.P47S NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 224 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TCAGAACAGGGGAAATAGCCA 0.522000 9 67 0 0 0.006214 0 0 PCDHGB4 8641 broad.mit.edu 37 5 140768504 140768504 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:140768504C>T ENST00000519479.1 + 1 1053 c.1053C>T c.(1051-1053)ccC>ccT p.P351P PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_003736.2|NM_018925.2|NM_032098.1 NP_003727.1|NP_061748.1|NP_115269.1 endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2) 37 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTCTCTACCCAACCTAATTA 0.468000 10 49 0 0 0.008291 0 0 CACNB2 783 broad.mit.edu 37 10 18823025 18823025 + Missense_Mutation SNP G G A rs112164873 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:18823025G>A ENST00000396576.2 + 10 1411 c.910G>A c.(910-912)Gaa>Aaa p.E304K CACNB2_ENST00000282343.8_Missense_Mutation_p.E331K|CACNB2_ENST00000352115.6_Missense_Mutation_p.E335K|CACNB2_ENST00000377329.4_Missense_Mutation_p.E305K|CACNB2_ENST00000377319.3_Missense_Mutation_p.E266K|CACNB2_ENST00000377315.4_Missense_Mutation_p.E311K|CACNB2_ENST00000377331.2_Missense_Mutation_p.E307K|CACNB2_ENST00000324631.7_Missense_Mutation_p.E359K|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Intron NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 359 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GAGTGAAATCGAAAGGATTTT 0.383000 9 42 0 0 0.010729 0 0 GHSR 2693 broad.mit.edu 37 3 172165494 172165494 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:172165494C>T ENST00000241256.2 - 1 752 c.710G>A c.(709-711)aGg>aAg p.R237K GHSR_ENST00000427970.1_Missense_Mutation_p.R237K NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 237 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) CCACAGCTTCCTGCCGATGAG 0.607000 11 45 0 0 0.008291 0 0 C1orf173 127254 broad.mit.edu 37 1 75038009 75038009 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:75038009C>T ENST00000326665.5 - 14 3603 c.3385G>A c.(3385-3387)Gaa>Aaa p.E1129K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1129 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ACAGGTGCTTCGTTCTCAGCA 0.468000 7 60 0 0 0.001984 0 0 HLA-DRB1 3123 broad.mit.edu 37 6 32549529 32549529 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:32549529G>A ENST00000360004.5 - 3 562 c.457C>T c.(457-459)Cca>Tca p.P153S NM_002124.3 NP_002115.2 major histocompatibility complex, class II, DR beta 1 large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1) 10 ATGCTGCCTGGATAGAAACCA 0.532000 Multiple Myeloma(14;0.17) 5 117 0 0 0.010729 0 0 ACCSL 390110 broad.mit.edu 37 11 44073250 44073250 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:44073250G>A ENST00000378832.1 + 5 809 c.753G>A c.(751-753)atG>atA p.M251I NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 251 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 CCCTGGCCATGGTTCTGTGTG 0.502000 47 180 0 0 0.014410 0 0 CACNG3 10368 broad.mit.edu 37 16 24366154 24366154 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:24366154G>A ENST00000005284.3 + 3 1498 c.295_splice c.e3-1 p.R99_splice NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 99 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.R99Q(1) NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) CTCTCCGCAGGAGCTGTGAGG 0.637000 6 59 0 0 0.001984 0 0 CFHR1 3078 broad.mit.edu 37 1 196801023 196801023 + Missense_Mutation SNP C C T rs16840561 byFrequency TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:196801023C>T ENST00000320493.5 + 6 975 c.887C>T c.(886-888)gCt>gTt p.A296V CFHR1_ENST00000367424.3_Missense_Mutation_p.A237V|CFHR2_ENST00000367421.3_Intron NM_002113.2 NP_002104.2 Q03591 FHR1_HUMAN complement factor H-related 1 296 Sushi 5. A -> V (in dbSNP:rs16840561). complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 GGTGAATCAGCTGAATTTGTG 0.398000 4 89 0 0 0.004482 0 0 NMBR 4829 broad.mit.edu 37 6 142396941 142396941 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:142396941G>A ENST00000258042.1 - 3 1157 c.1017C>T c.(1015-1017)ctC>ctT p.L339L NMBR_ENST00000480652.1_5'UTR NM_002511.2 NP_002502.2 P28336 NMBR_HUMAN neuromedin B receptor 339 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 23 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) TCCCACAGCAGAGTTGGCTGT 0.478000 31 74 0 0 0.005524 0 0 COL9A1 1297 broad.mit.edu 37 6 70990730 70990730 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:70990730G>A ENST00000357250.6 - 9 1047 c.889C>T c.(889-891)Cct>Tct p.P297S COL9A1_ENST00000370496.3_Missense_Mutation_p.P297S|COL9A1_ENST00000370499.4_Missense_Mutation_p.P54S|COL9A1_ENST00000320755.7_Missense_Mutation_p.P54S NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 297 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 GGGCCCTTAGGACCTCGGTCA 0.577000 10 54 0 0 0.010729 0 0 ZNF618 114991 broad.mit.edu 37 9 116812241 116812241 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:116812241C>T ENST00000288466.7 + 14 2479 c.2380C>T c.(2380-2382)Cct>Tct p.P794S ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.P887S NM_133374.2 NP_588615.2 Q5T7W0 ZN618_HUMAN zinc finger protein 618 887 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|lung(10)|urinary_tract(1) 16 CCAGGCTACCCCTGATCTCTT 0.592000 13 75 0 0 0.013537 0 0 ALPP 250 broad.mit.edu 37 2 233246055 233246055 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:233246055G>A ENST00000392027.2 + 10 1556 c.1287G>A c.(1285-1287)ccG>ccA p.P429P AC068134.8_ENST00000441266.1_RNA NM_001632.3 NP_001623.3 P05187 PPB1_HUMAN alkaline phosphatase, placental 429 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2) 22 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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) GCGCCCGGCCGGATGTTACCG 0.697000 9 63 0 0 0.008291 0 0 CCNA1 8900 broad.mit.edu 37 13 37011885 37011885 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:37011885G>A ENST00000418263.1 + 3 764 c.414G>A c.(412-414)atG>atA p.M138I CCNA1_ENST00000255465.4_Missense_Mutation_p.M139I|CCNA1_ENST00000440264.1_Missense_Mutation_p.M95I|CCNA1_ENST00000449823.1_Missense_Mutation_p.M95I NM_001111045.1|NM_003914.3 NP_001104515.1|NP_003905.1 P78396 CCNA1_HUMAN cyclin A1 139 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) ACATCTACATGGATGAACTAG 0.527000 14 55 0 0 0.001855 0 0 PPP1R9A 55607 broad.mit.edu 37 7 94913446 94913446 + Missense_Mutation SNP A A T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:94913446A>T ENST00000289495.5 + 15 3509 c.3293A>T c.(3292-3294)tAt>tTt p.Y1098F PPP1R9A_ENST00000433881.1_Intron|PPP1R9A_ENST00000340694.4_Intron|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.Y1116F|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.Y1116F|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Y1138F NM_001166161.1 NP_001159633.1 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory subunit 9A 889 cell junction|synapse|synaptosome actin binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5) 71 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) AAAGGATCCTATTCCTTCAGG 0.483000 HNSCC(28;0.073) 16 43 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9057290 9057290 + Silent SNP T T G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9057290T>G ENST00000397910.4 - 3 30359 c.30156A>C c.(30154-30156)tcA>tcC p.S10052S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10054 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 GGGTGAGGAGTGAAGTCACAG 0.483000 9 37 0 0 0.006214 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6064089 6064089 + Missense_Mutation SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:6064089G>T ENST00000409021.3 - 10 1959 c.1510C>A c.(1510-1512)Ctg>Atg p.L504M JAKMIP1_ENST00000282924.5_Missense_Mutation_p.L504M|JAKMIP1_ENST00000409371.3_Missense_Mutation_p.L319M|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.L339M|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.L504M NM_001099433.1 NP_001092903.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 504 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCCTGGAGCAGGGCGTAGGCG 0.667000 11 79 9.70103e-10 1.01013e-09 0.008291 1 0 JMJD6 23210 broad.mit.edu 37 17 74714856 74714856 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:74714856G>A ENST00000585429.1 - 5 1055 c.1028C>T c.(1027-1029)cCt>cTt p.P343L JMJD6_ENST00000445478.2_Silent_p.T389T|JMJD6_ENST00000397625.4_Silent_p.T389T Q6NYC1 JMJD6_HUMAN jumonji domain containing 6 0 Ser-rich. mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent nucleolus|nucleoplasm histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2) 16 CGTCCTGGGAGGTGGTGTCCC 0.627000 5 62 0 0 0.001168 0 0 HCRTR1 3061 broad.mit.edu 37 1 32086541 32086541 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:32086541G>A ENST00000403528.2 + 5 861 c.476G>A c.(475-477)cGg>cAg p.R159Q HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Missense_Mutation_p.R159Q|HCRTR1_ENST00000373706.5_Missense_Mutation_p.R159Q NM_001525.2 NP_001516.2 O43613 OX1R_HUMAN hypocretin (orexin) receptor 1 159 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) AGCACAGCCCGGCGGGCCCGT 0.617000 14 54 0 0 0.003163 0 0 CYP2D6 1565 broad.mit.edu 37 22 42523897 42523897 + Missense_Mutation SNP G G A rs1135830 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:42523897G>A ENST00000360608.5 - 6 1046 c.932C>T c.(931-933)tCg>tTg p.S311L NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.S311L|CYP2D6_ENST00000359033.4_Missense_Mutation_p.S260L|NDUFA6-AS1_ENST00000416037.1_RNA NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 311 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CAGCGTGGTCGAGGTGGTCAC 0.617000 19 75 0 0 0.008871 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55246796 55246796 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:55246796C>T ENST00000291860.1 + 6 1044 c.1026C>T c.(1024-1026)ctC>ctT p.L342L KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron NM_153443.3 NP_703144.2 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 342 integral to membrane|plasma membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) TCTTCTTTCTCCTTCATCGCT 0.522000 14 45 0 0 0.001855 0 0 XKR9 389668 broad.mit.edu 37 8 71646537 71646537 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:71646537C>T ENST00000408926.3 + 5 1534 c.1000C>T c.(1000-1002)Ctt>Ttt p.L334F XKR9_ENST00000520030.1_Missense_Mutation_p.L334F|XKR9_ENST00000520273.1_Intron NM_001011720.1 NP_001011720.1 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related family, member 9 334 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) TCTTGGAATTCTTTTTCTTAT 0.323000 6 23 0 0 0.001168 0 0 SCN10A 6336 broad.mit.edu 37 3 38766673 38766673 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:38766673G>A ENST00000449082.2 - 17 3219 c.3220C>T c.(3220-3222)Cct>Tct p.P1074S NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1074 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) ACCTCAGCAGGGACCTGAGGA 0.607000 9 37 0 0 0.010729 0 0 ZFAT 57623 broad.mit.edu 37 8 135614828 135614828 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:135614828G>A ENST00000520727.1 - 7 1397 c.1098C>T c.(1096-1098)gaC>gaT p.D366D ZFAT_ENST00000520214.1_Silent_p.D366D|ZFAT_ENST00000429442.2_Silent_p.D366D|ZFAT_ENST00000523399.1_Silent_p.D316D|ZFAT_ENST00000377838.3_Silent_p.D378D|ZFAT_ENST00000520356.1_Silent_p.D366D NM_001029939.3 NP_001025110.2 Q9P243 ZFAT_HUMAN zinc finger and AT hook domain containing 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0432) TGTCCTGTGGGTCATGCGCGT 0.557000 18 61 0 0 0.010504 0 0 TTN 7273 broad.mit.edu 37 2 179648473 179648473 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:179648473G>A ENST00000589042.1 - 17 3039 c.2815C>T c.(2815-2817)Cct>Tct p.P939S TTN_ENST00000342992.6_Missense_Mutation_p.P939S|TTN_ENST00000342175.6_Missense_Mutation_p.P893S|TTN_ENST00000460472.2_Missense_Mutation_p.P893S|TTN_ENST00000591111.1_Missense_Mutation_p.P939S|TTN_ENST00000360870.5_Missense_Mutation_p.P939S|TTN_ENST00000359218.5_Missense_Mutation_p.P893S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 939 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) GGAGTAACAGGAATTTCAACA 0.348000 7 50 0 0 0.004482 0 0 POLR2A 5430 broad.mit.edu 37 17 7400791 7400791 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:7400791C>T ENST00000322644.6 + 6 1335 c.936C>T c.(934-936)ttC>ttT p.F312F POLR2A_ENST00000572844.1_Silent_p.F312F NM_000937.4 NP_000928.1 P24928 RPB1_HUMAN polymerase (RNA) II (DNA directed) polypeptide A, 220kDa 312 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 50 Prostate(122;0.173) TCCTCCAGTTCCATGTGGCCA 0.592000 11 55 0 0 0.002450 0 0 ZNF846 162993 broad.mit.edu 37 19 9870588 9870588 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9870588G>A ENST00000397902.2 - 5 673 c.260C>T c.(259-261)tCc>tTc p.S87F ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000586293.1_Intron|ZNF846_ENST00000588267.1_Intron NM_001077624.1 NP_001071092.1 Q147U1 ZN846_HUMAN zinc finger protein 846 87 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 CAGCAGTGGGGAGCCTTTGGT 0.398000 12 42 0 0 0.001855 0 0 NMD3 51068 broad.mit.edu 37 3 160945082 160945082 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:160945082G>A ENST00000460469.1 + 3 682 c.227G>A c.(226-228)aGg>aAg p.R76K NMD3_ENST00000351193.2_Missense_Mutation_p.R76K|NMD3_ENST00000472947.1_Missense_Mutation_p.R76K|NMD3_ENST00000478160.1_3'UTR Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 76 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TTAGAATCCAGGGAACTTCTT 0.358000 7 41 0 0 0.003080 0 0 KCNK1 3775 broad.mit.edu 37 1 233767029 233767029 + Translation_Start_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:233767029G>A ENST00000366620.1 + 3 633 c.3G>A c.(1-3)atG>atA p.M1I KCNK1_ENST00000472190.1_Intron|KCNK1_ENST00000366621.3_Intron O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 0 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) ATCAAGATATGAAAGGTTGTC 0.448000 6 10 0 0 0.001984 0 0 GLB1L 79411 broad.mit.edu 37 2 220102567 220102567 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:220102567G>A ENST00000295759.7 - 15 1767 c.1454C>T c.(1453-1455)tCt>tTt p.S485F GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000409640.1_Missense_Mutation_p.S395F|GLB1L_ENST00000356283.3_Missense_Mutation_p.S395F|GLB1L_ENST00000392089.2_Missense_Mutation_p.S485F Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like 485 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTGCTGTTAGACCCAAAGCT 0.443000 10 66 0 0 0.008291 0 0 DSG4 147409 broad.mit.edu 37 18 28966764 28966764 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:28966764G>A ENST00000359747.4 + 3 227 c.198G>A c.(196-198)aaG>aaA p.K66K RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Silent_p.K66K|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 66 Cadherin 1. 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) ACAACTCGAAGAGGAACCCCA 0.453000 5 49 0 0 0.000602 0 0 UNC79 57578 broad.mit.edu 37 14 94046605 94046605 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:94046605C>T ENST00000553484.1 + 19 2698 c.2544C>T c.(2542-2544)acC>acT p.T848T UNC79_ENST00000555664.1_Silent_p.T848T|UNC79_ENST00000393151.2_Silent_p.T848T|UNC79_ENST00000256339.4_Silent_p.T671T Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 848 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GATCCCACACCTGCCAGAAGG 0.453000 29 50 0 0 0.012213 0 0 SLC30A3 7781 broad.mit.edu 37 2 27481129 27481129 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:27481129G>A ENST00000233535.4 - 3 676 c.324C>T c.(322-324)caC>caT p.H108H SLC30A3_ENST00000447008.2_Silent_p.H103H NM_003459.4 NP_003450.2 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), member 3 108 regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1) 20 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGCCAGCAAGTGGGCTGCAT 0.577000 10 37 0 0 0.013537 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955953 18955953 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:18955953G>A ENST00000302797.3 - 1 603 c.379C>T c.(379-381)Ccc>Tcc p.P127S MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 127 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity p.P127A(1) 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 TACCAGATGGGCCACAGGACG 0.592000 16 85 0 0 0.006122 0 0 SPICE1 152185 broad.mit.edu 37 3 113175994 113175994 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:113175994G>A ENST00000295872.4 - 13 1905 c.1646C>T c.(1645-1647)cCt>cTt p.P549L NM_144718.3 NP_653319.1 Q8N0Z3 SPICE_HUMAN spindle and centriole associated protein 1 549 cell division|mitosis centriole|spindle protein binding NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1) 33 GTCCTGAAGAGGAGAGAATTT 0.363000 7 24 0 0 0.003080 0 0 GPR115 221393 broad.mit.edu 37 6 47682440 47682440 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:47682440C>T ENST00000283303.2 + 6 1717 c.1459C>T c.(1459-1461)Ctg>Ttg p.L487L GPR115_ENST00000327753.3_Silent_p.L487L|GPR115_ENST00000371220.1_Silent_p.L544L NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 487 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 CTACCTCTCTCTGTTTTTCTG 0.408000 28 198 0 0 0.007291 0 0 KIAA1804 84451 broad.mit.edu 37 1 233514947 233514947 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:233514947C>T ENST00000366624.3 + 9 2456 c.2195C>T c.(2194-2196)tCg>tTg p.S732L MLK4_ENST00000366622.1_Missense_Mutation_p.S178L NM_032435.2 NP_115811.2 CTTCTGGCATCGGTGGCTCTG 0.517000 13 46 0 0 0.001855 0 0 SYT17 51760 broad.mit.edu 37 16 19236127 19236127 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:19236127G>A ENST00000562034.1 + 5 4810 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K SYT17_ENST00000355377.2_Missense_Mutation_p.E399K|SYT17_ENST00000562711.2_Missense_Mutation_p.E395K|SYT17_ENST00000568433.1_Missense_Mutation_p.E93K|SYT17_ENST00000568115.1_Missense_Mutation_p.E338K Q9BSW7 SYT17_HUMAN synaptotagmin XVII 399 C2 2. membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 AGTTCCCCAAGAAGAACTGGA 0.458000 17 84 0 0 0.007413 0 0 FAM83C 128876 broad.mit.edu 37 20 33874510 33874510 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:33874510C>T ENST00000374408.3 - 4 2168 c.2072G>A c.(2071-2073)gGg>gAg p.G691E NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 691 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) CTGCCTGGCCCCGTGCAACTG 0.612000 17 105 0 0 0.004990 0 0 GRM3 2913 broad.mit.edu 37 7 86479772 86479772 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:86479772C>T ENST00000394720.2 + 4 1582 c.1405C>T c.(1405-1407)Cct>Tct p.P469S GRM3_ENST00000439827.1_Missense_Mutation_p.P471S|GRM3_ENST00000361669.2_Silent_p.I826I|GRM3_ENST00000536043.1_Silent_p.I698I|GRM3_ENST00000546348.1_Silent_p.I418I Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 0 synaptic transmission integral to plasma membrane p.L827V(1)|p.I826I(1) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TTCACATCATCCTGTTTCAAC 0.488000 9 44 0 0 0.006214 0 0 FGB 2244 broad.mit.edu 37 4 155491713 155491713 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:155491713G>A ENST00000302068.4 + 8 1450 c.1387G>A c.(1387-1389)Gat>Aat p.D463N FGB_ENST00000509493.1_Missense_Mutation_p.D244N|FGB_ENST00000502545.1_3'UTR NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 463 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) TGGCACAGATGATGGTGTAGT 0.483000 9 50 0 0 0.006214 0 0 NXF1 10482 broad.mit.edu 37 11 62563934 62563934 + Silent SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:62563934G>T ENST00000532297.1 - 15 1913 c.1284C>A c.(1282-1284)gcC>gcA p.A428A NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Silent_p.A428A Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 428 NTF2. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATACTAACCGGGCAGGGTTCT 0.557000 21 65 7.92952e-12 8.28108e-12 0.003954 1 0 SLC37A2 219855 broad.mit.edu 37 11 124947412 124947412 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:124947412G>A ENST00000403796.2 + 4 603 c.302G>A c.(301-303)gGc>gAc p.G101D SLC37A2_ENST00000407458.1_Missense_Mutation_p.G101D|SLC37A2_ENST00000308074.4_Missense_Mutation_p.G101D|SLC37A2_ENST00000298280.5_Missense_Mutation_p.G101D NM_001145290.1 NP_001138762.1 Q8TED4 SPX2_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 2 101 carbohydrate transport|transmembrane transport integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 27 all_hematologic(175;0.215) Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384) TATGCCATCGGCATGTTCATC 0.527000 11 39 0 0 0.008291 0 0 SCN7A 6332 broad.mit.edu 37 2 167262763 167262763 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:167262763C>T ENST00000409855.1 - 25 4502 c.4376G>A c.(4375-4377)gGg>gAg p.G1459E NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1459 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 AACTTGAGTCCCAGGGTTAAT 0.373000 14 69 0 0 0.003163 0 0 COL4A1 1282 broad.mit.edu 37 13 110830467 110830467 + Missense_Mutation SNP G G A rs145861489 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:110830467G>A ENST00000375820.4 - 32 2691 c.2570C>T c.(2569-2571)tCg>tTg p.S857L NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 857 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) AGGGAGCCCCGACTGTCCCGT 0.552000 52 111 0 0 0.014410 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101409 80101409 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:80101409G>A ENST00000466387.1 + 10 1517 c.793G>A c.(793-795)Gac>Aac p.D265N CTNNA2_ENST00000541047.1_Missense_Mutation_p.D265N|CTNNA2_ENST00000402739.4_Missense_Mutation_p.D265N|CTNNA2_ENST00000540488.1_Missense_Mutation_p.D265N|CTNNA2_ENST00000361291.4_Missense_Mutation_p.D299N|CTNNA2_ENST00000496558.1_Missense_Mutation_p.D265N P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 265 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 CTCGCCCACTGACGAAGCCAA 0.582000 17 56 0 0 0.004007 0 0 PKP2 5318 broad.mit.edu 37 12 33031163 33031163 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:33031163G>A ENST00000340811.4 - 3 759 c.651C>T c.(649-651)taC>taT p.Y217Y PKP2_ENST00000070846.6_Silent_p.Y217Y NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 217 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) ACTGTCTGTGGTATGTGTCAA 0.632000 11 58 0 0 0.010729 0 0 TNXB 7148 broad.mit.edu 37 6 32038124 32038124 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:32038124G>A ENST00000375244.3 - 14 5259 c.5058C>T c.(5056-5058)acC>acT p.T1686T TNXB_ENST00000375247.2_Silent_p.T1686T P22105 TENX_HUMAN tenascin XB 1768 Fibronectin type-III 9. 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 GTGAGTCTGGGGTGGGGTCTG 0.617000 64 232 0 0 0.014410 0 0 SRSF5 6430 broad.mit.edu 37 14 70238028 70238028 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:70238028C>T ENST00000553521.1 + 9 2122 c.669C>T c.(667-669)agC>agT p.S223S SRSF5_ENST00000553635.1_Silent_p.S220S|SRSF5_ENST00000394366.2_Silent_p.S223S|SRSF5_ENST00000557154.1_Silent_p.S223S|SRSF5_ENST00000556587.1_3'UTR Q13243 SRSF5_HUMAN serine/arginine-rich splicing factor 5 223 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding large_intestine(1)|liver(1) 2 GGAGCCGGAGCCGGAGCAAGT 0.562000 47 87 0 0 0.013114 0 0 PSG5 5673 broad.mit.edu 37 19 43689011 43689011 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:43689011C>T ENST00000404580.1 - 2 441 c.353G>A c.(352-354)gGa>gAa p.G118E PSG5_ENST00000599812.1_Missense_Mutation_p.G118E|PSG5_ENST00000407568.1_Missense_Mutation_p.G118E|PSG5_ENST00000407356.1_Missense_Mutation_p.G118E|PSG5_ENST00000366175.3_Missense_Mutation_p.G118E|PSG5_ENST00000342951.6_Missense_Mutation_p.G118E|PSG5_ENST00000401992.1_5'UTR Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 118 Ig-like V-type. female pregnancy extracellular region breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(69;0.00899) GGTGTAGGATCCTGCGTCTTC 0.448000 62 257 0 0 0.014410 0 0 PBX1 5087 broad.mit.edu 37 1 164769111 164769111 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:164769111G>A ENST00000420696.2 + 4 874 c.686G>A c.(685-687)cGa>cAa p.R229Q PBX1_ENST00000540236.1_Missense_Mutation_p.R229Q|PBX1_ENST00000367897.1_Missense_Mutation_p.R229Q|PBX1_ENST00000560641.1_Missense_Mutation_p.R124Q|PBX1_ENST00000540246.1_Missense_Mutation_p.R124Q|PBX1_ENST00000559240.1_Missense_Mutation_p.R229Q|PBX1_ENST00000401534.1_Missense_Mutation_p.R229Q NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 229 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 CTGCGTTCCCGATTTCTGGAT 0.617000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 7 24 0 0 0.008291 0 0 NWD1 284434 broad.mit.edu 37 19 16918858 16918858 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:16918858G>A ENST00000524140.2 + 18 4616 c.4198G>A c.(4198-4200)Gag>Aag p.E1400K NWD1_ENST00000552788.1_Missense_Mutation_p.E1400K|NWD1_ENST00000549814.1_Missense_Mutation_p.E1358K|NWD1_ENST00000379808.3_Missense_Mutation_p.E1400K|NWD1_ENST00000339803.6_Missense_Mutation_p.E1265K|NWD1_ENST00000523826.1_Missense_Mutation_p.E1194K NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1400 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 CAGCCACAAGGAGCAGCTGGT 0.587000 12 102 0 0 0.001855 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596509 24596509 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:24596509C>T ENST00000535378.1 - 4 1008 c.366G>A c.(364-366)ggG>ggA p.G122G KIAA0319_ENST00000378214.3_Silent_p.G131G|KIAA0319_ENST00000543707.1_Silent_p.G131G|KIAA0319_ENST00000430948.2_Silent_p.G86G|KIAA0319_ENST00000537886.1_Silent_p.G131G NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 131 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 CAGGTGAGTCCCCCCAGATCC 0.552000 6 65 0 0 0.001984 0 0 PEG3 5178 broad.mit.edu 37 19 57333026 57333026 + Missense_Mutation SNP C C T rs138565582 byFrequency TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:57333026C>T ENST00000326441.9 - 7 1025 c.662G>A c.(661-663)cGa>cAa p.R221Q PEG3_ENST00000423103.2_Missense_Mutation_p.R221Q|ZIM2_ENST00000601070.1_Missense_Mutation_p.R96Q|ZIM2_ENST00000593711.1_Missense_Mutation_p.R96Q|ZIM2_ENST00000599935.1_Missense_Mutation_p.R96Q|PEG3_ENST00000598410.1_Missense_Mutation_p.R96Q|ZIM2_ENST00000221722.5_Missense_Mutation_p.R96Q|ZIM2_ENST00000391708.3_Missense_Mutation_p.R96Q|PEG3_ENST00000593695.1_Missense_Mutation_p.R95Q NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 221 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) TACCTGAGATCGGGACTCATA 0.527000 26 114 0 0 0.005443 0 0 PAK7 57144 broad.mit.edu 37 20 9538273 9538273 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:9538273G>A ENST00000378429.3 - 8 2271 c.1725C>T c.(1723-1725)ctC>ctT p.L575L PAK7_ENST00000378423.1_Silent_p.L575L|PAK7_ENST00000353224.5_Silent_p.L575L NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 575 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CGCTTGTCAGGAGGATGGAGT 0.448000 12 45 0 0 0.002450 0 0 COL28A1 340267 broad.mit.edu 37 7 7477065 7477065 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:7477065C>T ENST00000399429.3 - 22 1891 c.1751G>A c.(1750-1752)gGa>gAa p.G584E NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 584 cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TCCAGGCATTCCAAAAGGGCC 0.388000 13 37 0 0 0.004990 0 0 SHMT2 6472 broad.mit.edu 37 12 57628078 57628078 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:57628078C>T ENST00000328923.3 + 12 1901 c.1449C>T c.(1447-1449)gcC>gcT p.A483A SHMT2_ENST00000449049.3_Silent_p.A462A|SHMT2_ENST00000414700.3_Silent_p.A462A|SHMT2_ENST00000393827.4_Silent_p.A387A|SHMT2_ENST00000557487.1_Silent_p.A473A|SHMT2_ENST00000553474.1_Silent_p.A462A NM_001166356.1|NM_005412.5 NP_001159828.1|NP_005403.2 P34897 GLYM_HUMAN serine hydroxymethyltransferase 2 (mitochondrial) 483 microtubule cytoskeleton|mitochondrial nucleoid glycine hydroxymethyltransferase activity|methyltransferase activity breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 15 Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) AGCGTCTGGCCAACCTCAGGC 0.532000 17 107 0 0 0.004990 0 0 PTPRK 5796 broad.mit.edu 37 6 128302403 128302403 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:128302403G>A ENST00000368227.3 - 26 3986 c.3620C>T c.(3619-3621)gCt>gTt p.A1207V PTPRK_ENST00000368215.3_Missense_Mutation_p.A1189V|PTPRK_ENST00000368226.4_Missense_Mutation_p.A1190V|PTPRK_ENST00000368213.5_Missense_Mutation_p.A1196V|PTPRK_ENST00000532331.1_Missense_Mutation_p.A1212V|PTPRK_ENST00000368210.3_Missense_Mutation_p.A1208V|PTPRK_ENST00000368207.3_Missense_Mutation_p.A1222V Q15262 PTPRK_HUMAN protein tyrosine phosphatase, receptor type, K 1189 Tyrosine-protein phosphatase 2. cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity PTPRK/RSPO3(10) autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24) GCAGTCTTCAGCTTGTAGTCG 0.428000 11 19 0 0 0.008291 0 0 CNOT4 4850 broad.mit.edu 37 7 135106988 135106988 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:135106988G>A ENST00000428680.2 - 3 568 c.289C>T c.(289-291)Cgc>Tgc p.R97C CNOT4_ENST00000423368.2_Missense_Mutation_p.R97C|CNOT4_ENST00000414802.1_Missense_Mutation_p.R97C|CNOT4_ENST00000356162.4_Missense_Mutation_p.R97C|CNOT4_ENST00000361528.4_Missense_Mutation_p.R97C|CNOT4_ENST00000541284.1_Missense_Mutation_p.R97C|CNOT4_ENST00000315544.5_Missense_Mutation_p.R97C|CNOT4_ENST00000451834.1_Missense_Mutation_p.R97C NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 97 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 AAATGTTTGCGATTTTCTGAT 0.398000 14 57 0 0 0.004990 0 0 CD163 9332 broad.mit.edu 37 12 7640083 7640083 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:7640083C>T ENST00000359156.4 - 8 2124 c.1922G>A c.(1921-1923)gGa>gAa p.G641E CD163_ENST00000396620.3_Missense_Mutation_p.G674E|CD163_ENST00000432237.2_Missense_Mutation_p.G641E|CD163_ENST00000541972.1_Missense_Mutation_p.G629E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 641 SRCR 6. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CTGACCATTTCCTTTTCCAAA 0.478000 27 94 0 0 0.006320 0 0 VTCN1 79679 broad.mit.edu 37 1 117695729 117695729 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:117695729C>T ENST00000369458.3 - 4 786 c.708G>A c.(706-708)ggG>ggA p.G236G VTCN1_ENST00000359008.4_Silent_p.G239G|VTCN1_ENST00000328189.3_Silent_p.G120G|VTCN1_ENST00000539893.1_Silent_p.G141G NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 236 Ig-like V-type 2. integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) CTTTGATATCCCCTGTTGCTT 0.358000 22 92 0 0 0.002780 0 0 NFYA 4800 broad.mit.edu 37 6 41059431 41059431 + Missense_Mutation SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:41059431A>G ENST00000341376.6 + 7 913 c.712A>G c.(712-714)Atg>Gtg p.M238V NFYA_ENST00000353205.5_Missense_Mutation_p.M209V|OARD1_ENST00000480585.1_Intron NM_002505.4 NP_002496.1 P23511 NFYA_HUMAN nuclear transcription factor Y, alpha 238 transcription from RNA polymerase II promoter CCAAT-binding factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 9 Ovarian(28;0.0418)|Colorectal(47;0.196) AGGGATGGTCATGGTAAGAAA 0.423000 19 101 0 0 0.014323 0 0 ZPLD1 131368 broad.mit.edu 37 3 102153975 102153975 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:102153975C>T ENST00000306176.1 + 1 117 c.17C>T c.(16-18)tCc>tTc p.S6F ZPLD1_ENST00000466937.1_5'UTR|ZPLD1_ENST00000491959.1_Intron NM_175056.1 NP_778226.1 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 0 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3) 35 CTCAGGTTTTCCATGTGCAGG 0.378000 8 38 0 0 0.010729 0 0 COQ3 51805 broad.mit.edu 37 6 99823983 99823983 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:99823983T>C ENST00000254759.3 - 5 586 c.562A>G c.(562-564)Aaa>Gaa p.K188E COQ3_ENST00000369240.1_Intron|COQ3_ENST00000369242.1_Intron NM_017421.3 NP_059117.3 Q9NZJ6 COQ3_HUMAN coenzyme Q3 methyltransferase 188 glycerol metabolic process|ubiquinone biosynthetic process mitochondrial matrix 2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity cervix(1)|lung(5)|upper_aerodigestive_tract(2) 8 all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0625) TCAAATGATTTATGGCATTGT 0.428000 12 80 0 0 0.001855 0 0 COBLL1 22837 broad.mit.edu 37 2 165578729 165578729 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:165578729G>A ENST00000375458.2 - 6 1073 c.852C>T c.(850-852)acC>acT p.T284T COBLL1_ENST00000194871.6_Silent_p.T350T|COBLL1_ENST00000342193.4_Silent_p.T284T|COBLL1_ENST00000409184.3_Silent_p.T322T|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000392717.2_Silent_p.T322T NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 322 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 CCGACGGCAGGGTGTTGGAAA 0.537000 8 49 0 0 0.003080 0 0 COCH 1690 broad.mit.edu 37 14 31354664 31354664 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:31354664C>T ENST00000460581.2 + 8 1008 c.462C>T c.(460-462)atC>atT p.I154I COCH_ENST00000396618.3_Silent_p.I266I|COCH_ENST00000216361.4_Silent_p.I266I|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Silent_p.I266I|COCH_ENST00000382493.4_Silent_p.I117I O43405 COCH_HUMAN cochlin 266 sensory perception of sound proteinaceous extracellular matrix central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3) 19 Hepatocellular(127;0.0877)|Breast(36;0.148) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805) GBM - Glioblastoma multiforme(265;0.00645) GAAAAGGGATCCCCAAAGTGG 0.408000 13 55 0 0 0.001855 0 0 SYT6 148281 broad.mit.edu 37 1 114646258 114646258 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:114646258C>T ENST00000393296.1 - 4 1234 c.1157G>A c.(1156-1158)cGg>cAg p.R386Q SYT6_ENST00000369547.1_Missense_Mutation_p.R301Q Q5T7P8 SYT6_HUMAN synaptotagmin VI 386 C2 2. acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTGAGGTTCCGACACTTAAT 0.537000 9 69 0 0 0.004482 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045748 26045748 + Missense_Mutation SNP A A T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:26045748A>T ENST00000540144.1 + 1 110 c.110A>T c.(109-111)aAg>aTg p.K37M NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 37 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 GGTGGCGTGAAGAAACCTCAT 0.632000 14 68 0 0 0.001855 0 0 PMFBP1 83449 broad.mit.edu 37 16 72158669 72158669 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:72158669C>T ENST00000537465.1 - 17 2759 c.2601G>A c.(2599-2601)aaG>aaA p.K867K PMFBP1_ENST00000537792.1_Silent_p.K28K|PMFBP1_ENST00000355636.6_Silent_p.K717K|PMFBP1_ENST00000237353.10_Silent_p.K862K Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 867 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TGCCCACCTCCTTATCGTCCT 0.577000 OREG0023927 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 52 0 0 0.002780 0 0 DUSP26 78986 broad.mit.edu 37 8 33449668 33449668 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:33449668G>A ENST00000256261.4 - 4 1016 c.499C>T c.(499-501)Ctc>Ttc p.L167F DUSP26_ENST00000523956.1_Missense_Mutation_p.L167F NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 167 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) TACAGCATGAGGTAGGCCAGT 0.587000 9 26 0 0 0.004482 0 0 CCR6 1235 broad.mit.edu 37 6 167550381 167550381 + Silent SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:167550381T>C ENST00000341935.5 + 3 1215 c.663T>C c.(661-663)ttT>ttC p.F221F CCR6_ENST00000400926.2_Silent_p.F221F|CCR6_ENST00000349984.4_Silent_p.F221F NM_031409.3 NP_113597.2 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 221 cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 14 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) AGCTACTCTTTGGTTTCTTTA 0.458000 13 94 0 0 0.002450 0 0 DNAH7 56171 broad.mit.edu 37 2 196729392 196729392 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:196729392G>A ENST00000312428.6 - 41 7087 c.6987C>T c.(6985-6987)atC>atT p.I2329I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2329 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 GCTGCTTCAGGATCCTGGAAA 0.453000 12 31 0 0 0.010729 0 0 VWA5A 4013 broad.mit.edu 37 11 124013234 124013234 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:124013234C>T ENST00000456829.2 + 17 2360 c.2109C>T c.(2107-2109)atC>atT p.I703I VWA5A_ENST00000392748.1_Silent_p.I703I|VWA5A_ENST00000360334.4_3'UTR NM_001130142.1 NP_001123614.1 O00534 VMA5A_HUMAN von Willebrand factor A domain containing 5A 703 autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 TAGCCAAGATCCTAGGTATGA 0.423000 19 67 0 0 0.008871 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28297280 28297280 + Silent SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:28297280G>T ENST00000414429.1 - 6 1084 c.181C>A c.(181-183)Cga>Aga p.R61R ZSCAN31_ENST00000344279.6_Silent_p.R61R|ZSCAN31_ENST00000396838.2_Silent_p.R61R|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000439158.1_Silent_p.R61R zinc finger and SCAN domain containing 31 CAGAGTTCTCGGAGCCGGCTC 0.522000 6 263 8.12818e-05 8.40573e-05 0.001984 1 0 PCDH19 57526 broad.mit.edu 37 X 99662260 99662260 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:99662260C>T ENST00000373034.4 - 1 3011 c.1336G>A c.(1336-1338)Gaa>Aaa p.E446K PCDH19_ENST00000420881.2_Missense_Mutation_p.E446K|PCDH19_ENST00000255531.7_Missense_Mutation_p.E446K NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 446 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 TTGTCATTTTCGTCAGTGATG 0.572000 25 47 0 0 0.003330 0 0 AGFG2 3268 broad.mit.edu 37 7 100153358 100153358 + Splice_Site SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:100153358G>A ENST00000300176.4 + 6 999 c.877_splice c.e6+1 p.G293_splice AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_3'UTR NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 293 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AACTCCTGCAGGTAAACTCTG 0.507000 17 104 0 0 0.006122 0 0 HNF4G 3174 broad.mit.edu 37 8 76456189 76456189 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:76456189C>T ENST00000396423.2 + 2 356 c.232C>T c.(232-234)Cgt>Tgt p.R78C HNF4G_ENST00000354370.1_Missense_Mutation_p.R41C NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 41 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) ACGCAGCATTCGTAAGAGTCA 0.438000 7 53 0 0 0.003080 0 0 SCN5A 6331 broad.mit.edu 37 3 38601884 38601884 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:38601884G>A ENST00000413689.1 - 23 4192 c.3999C>T c.(3997-3999)tcC>tcT p.S1333S SCN5A_ENST00000414099.2_Silent_p.S1333S|SCN5A_ENST00000333535.4_Silent_p.S1333S|SCN5A_ENST00000455624.2_Silent_p.S1332S|SCN5A_ENST00000451551.2_Silent_p.S1279S|SCN5A_ENST00000423572.2_Silent_p.S1332S|SCN5A_ENST00000425664.1_Silent_p.S1333S|SCN5A_ENST00000450102.2_Silent_p.S1279S|SCN5A_ENST00000449557.2_Silent_p.S1279S|SCN5A_ENST00000443581.1_Silent_p.S1332S NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1333 S -> Y (in LQT3 and SIDS). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CGTTCATGATGGACGGGATGG 0.572000 3 32 0 0 0.004672 0 0 KDR 3791 broad.mit.edu 37 4 55984850 55984850 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:55984850C>T ENST00000263923.4 - 3 574 c.279G>A c.(277-279)gtG>gtA p.V93V NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 93 Ig-like C2-type 1. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CATTTCCGATCACTTTTGGAA 0.468000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 14 41 0 0 0.003163 0 0 SIAH3 283514 broad.mit.edu 37 13 46358027 46358027 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr13:46358027G>A ENST00000400405.2 - 2 407 c.301C>T c.(301-303)Ccg>Tcg p.P101S NM_198849.2 NP_942146.2 Q8IW03 SIAH3_HUMAN siah E3 ubiquitin protein ligase family member 3 101 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding large_intestine(3)|lung(7)|ovary(1)|skin(1) 12 GGCGTCACCGGGTTGGCGTGC 0.682000 31 44 0 0 0.009535 0 0 FLG 2312 broad.mit.edu 37 1 152277785 152277785 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:152277785T>C ENST00000368799.1 - 3 9612 c.9577A>G c.(9577-9579)Aga>Gga p.R3193G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3193 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTGAGTGTCTAGAGATGTCG 0.542000 Ichthyosis 39 156 0 0 0.009718 0 0 BRS3 680 broad.mit.edu 37 X 135572395 135572395 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:135572395C>T ENST00000370648.3 + 2 766 c.538C>T c.(538-540)Cta>Tta p.L180L NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 180 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) GATATTTGCTCTACCTGAGGC 0.418000 15 34 0 0 0.003163 0 0 FBN3 84467 broad.mit.edu 37 19 8174261 8174261 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:8174261C>T ENST00000600128.1 - 36 4882 c.4468G>A c.(4468-4470)Ggg>Agg p.G1490R FBN3_ENST00000270509.2_Missense_Mutation_p.G1490R|FBN3_ENST00000601739.1_Missense_Mutation_p.G1490R Q75N90 FBN3_HUMAN fibrillin 3 1490 TB 6. 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 AAACAGTTCCCGGCCCGAGTG 0.557000 14 50 0 0 0.003163 0 0 TENM4 26011 broad.mit.edu 37 11 78413134 78413134 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:78413134C>T ENST00000278550.7 - 28 4986 c.4524G>A c.(4522-4524)ggG>ggA p.G1508G NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CACTGGGGGCCCCAGCAACGA 0.468000 6 14 0 0 0.001984 0 0 SERPINB2 5055 broad.mit.edu 37 18 61570459 61570459 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr18:61570459G>A ENST00000457692.1 + 9 1501 c.1168G>A c.(1168-1170)Gca>Aca p.A390T SERPINB2_ENST00000299502.4_Missense_Mutation_p.A390T NM_001143818.1 NP_001137290.1 P05120 PAI2_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 2 390 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis extracellular space|Golgi apparatus|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) ACAGTTTGTGGCAGATCATCC 0.468000 21 80 0 0 0.010504 0 0 SNHG14 104472715 broad.mit.edu 37 15 25320990 25320990 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:25320990C>T ENST00000549804.2 + 0 1086 TGGTCTCCTTCAGGCTGGTGG 0.463000 4 9 0 0 0.009096 0 0 NWD1 284434 broad.mit.edu 37 19 16918894 16918894 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:16918894C>T ENST00000524140.2 + 18 4652 c.4234C>T c.(4234-4236)Ctg>Ttg p.L1412L NWD1_ENST00000552788.1_Silent_p.L1412L|NWD1_ENST00000549814.1_Silent_p.L1370L|NWD1_ENST00000379808.3_Silent_p.L1412L|NWD1_ENST00000339803.6_Silent_p.L1277L|NWD1_ENST00000523826.1_Silent_p.L1206L NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1412 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 GGATGCCCTGCTGTGTCTCTG 0.597000 16 97 0 0 0.004007 0 0 DGKZ 8525 broad.mit.edu 37 11 46393044 46393044 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:46393044G>A ENST00000454345.1 + 9 1339 c.1214G>A c.(1213-1215)aGc>aAc p.S405N DGKZ_ENST00000318201.8_Missense_Mutation_p.S194N|DGKZ_ENST00000343674.6_Missense_Mutation_p.S233N|DGKZ_ENST00000527911.1_Missense_Mutation_p.S217N|DGKZ_ENST00000421244.2_Missense_Mutation_p.S217N|DGKZ_ENST00000395574.3_Missense_Mutation_p.S183N|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_5'UTR|DGKZ_ENST00000532868.2_Missense_Mutation_p.S221N|DGKZ_ENST00000456247.2_Missense_Mutation_p.S216N NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta 405 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CAGTACCACAGCAAGGTGTCC 0.706000 14 36 0 0 0.002450 0 0 COL6A2 1292 broad.mit.edu 37 21 47552145 47552145 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr21:47552145C>T ENST00000300527.4 + 28 2843 c.2739C>T c.(2737-2739)tcC>tcT p.S913S NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 913 Nonhelical region.|VWFA 3. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) ACCTGAACTCCTTCTCGCACG 0.672000 3 14 0 0 0.009096 0 0 AKAP9 10142 broad.mit.edu 37 7 91694579 91694579 + Silent SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:91694579A>G ENST00000359028.2 + 26 6273 c.6048A>G c.(6046-6048)gaA>gaG p.E2016E AKAP9_ENST00000358100.2_Silent_p.E2016E|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Silent_p.E2004E Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 2016 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TAATGAAGGAAAAACTAGAAG 0.294000 T BRAF papillary thyroid 5 21 0 0 0.001984 0 0 SLC16A9 220963 broad.mit.edu 37 10 61414328 61414328 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:61414328G>A ENST00000395348.3 - 5 1092 c.456C>T c.(454-456)ttC>ttT p.F152F SLC16A9_ENST00000395347.1_Silent_p.F152F NM_194298.2 NP_919274.1 Q7RTY1 MOT9_HUMAN solute carrier family 16, member 9 152 urate metabolic process integral to membrane|plasma membrane symporter activity kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 23 CAGCATATATGAAAAGGCCAA 0.408000 12 64 0 0 0.013537 0 0 KRT6B 3854 broad.mit.edu 37 12 52845481 52845481 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:52845481G>A ENST00000252252.3 - 1 429 c.382C>T c.(382-384)Cct>Tct p.P128S NM_005555.3 NP_005546.2 P04259 K2C6B_HUMAN keratin 6B 128 Head. ectoderm development keratin filament structural constituent of cytoskeleton NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2) 40 BRCA - Breast invasive adenocarcinoma(357;0.083) GGGCACACAGGGAAGCCAGGG 0.647000 6 110 0 0 0.001168 0 0 BRINP3 339479 broad.mit.edu 37 1 190234128 190234128 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:190234128C>T ENST00000367462.3 - 4 716 c.485G>A c.(484-486)gGa>gAa p.G162E RP11-547I7.1_ENST00000452178.1_RNA|FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.G60E NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 162 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) GGAATCACTTCCTTCAGCTCG 0.428000 9 32 0 0 0.008291 0 0 LRP6 4040 broad.mit.edu 37 12 12279643 12279643 + Missense_Mutation SNP A A C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:12279643A>C ENST00000261349.4 - 20 4370 c.4294T>G c.(4294-4296)Ttg>Gtg p.L1432V LRP6_ENST00000543091.1_Missense_Mutation_p.L1387V|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Intron NM_002336.2 NP_002327.2 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 6 1432 cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GATCCTGACAAAGAACTTGGG 0.458000 37 216 0 0 0.006230 0 0 KDM4D 55693 broad.mit.edu 37 11 94731988 94731988 + Silent SNP G G T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:94731988G>T ENST00000335080.5 + 3 2284 c.1452G>T c.(1450-1452)tcG>tcT p.S484S KDM4D_ENST00000536741.1_Silent_p.S484S NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 484 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GCACAGCTTCGGGCCCAGAAC 0.617000 3 33 0.004672 0.00481275 0.004672 1 0 GALK2 2585 broad.mit.edu 37 15 49509510 49509510 + Splice_Site SNP C C T rs149095986 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:49509510C>T ENST00000327171.3 + 3 465 c.233_splice c.e3+1 p.P78_splice GALK2_ENST00000560031.1_Splice_Site_p.P89_splice|GALK2_ENST00000396509.2_Splice_Site_p.P65_splice|GALK2_ENST00000559454.1_Splice_Site_p.P65_splice|GALK2_ENST00000544523.1_Splice_Site_p.P65_splice|GALK2_ENST00000543495.1_5'UTR NM_001001556.1 NP_001001556.1 Q01415 GALK2_HUMAN galactokinase 2 89 galactose metabolic process cytoplasm ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 all_lung(180;0.000325) all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05) CCCTTGTATCCGTGAGTATTT 0.373000 8 79 0 0 0.003080 0 0 HK3 3101 broad.mit.edu 37 5 176314054 176314054 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:176314054G>A ENST00000292432.5 - 13 1897 c.1806C>T c.(1804-1806)ctC>ctT p.L602L NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 602 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) AACCCAGTGGGAGGCTCTGCC 0.607000 8 24 0 0 0.003080 0 0 RP1 6101 broad.mit.edu 37 8 55534821 55534821 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:55534821G>A ENST00000220676.1 + 3 908 c.760G>A c.(760-762)Gga>Aga p.G254R NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 254 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 p.G64*(1)|p.G254*(1) 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) GTACCCCAAGGGAAATGCAAA 0.423000 11 44 0 0 0.002450 0 0 KANSL3 55683 broad.mit.edu 37 2 97271080 97271080 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:97271080G>A ENST00000599854.1 - 15 2116 c.1649C>T c.(1648-1650)cCt>cTt p.P550L KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000440133.1_Missense_Mutation_p.P457L|KANSL3_ENST00000431828.1_Missense_Mutation_p.P637L NM_001115016.2 NP_001108488.1 Q9P2N6 K1310_HUMAN KAT8 regulatory NSL complex subunit 3 663 TCCTTGGGAAGGAGCACAAGG 0.537000 8 41 0 0 0.006214 0 0 TNFAIP8L3 388121 broad.mit.edu 37 15 51397368 51397368 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:51397368C>T ENST00000327536.5 - 1 105 c.6G>A c.(4-6)ggG>ggA p.G2G RP11-108K3.1_ENST00000559909.1_lincRNA NM_207381.2 NP_997264.2 Q5GJ75 TP8L3_HUMAN tumor necrosis factor, alpha-induced protein 8-like 3 2 endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 11 all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338) GCCGTGGTTTCCCCATTTGGA 0.517000 15 57 0 0 0.006122 0 0 GDPD5 81544 broad.mit.edu 37 11 75150947 75150947 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:75150947G>A ENST00000526177.1 - 11 2997 c.1119C>T c.(1117-1119)atC>atT p.I373I GDPD5_ENST00000376282.3_Silent_p.I392I|GDPD5_ENST00000336898.3_Silent_p.I511I|GDPD5_ENST00000533805.1_Silent_p.I266I|GDPD5_ENST00000533784.1_Silent_p.I392I|GDPD5_ENST00000529721.1_Silent_p.I511I|GDPD5_ENST00000443276.2_3'UTR Q8WTR4 GDPD5_HUMAN glycerophosphodiester phosphodiesterase domain containing 5 511 GDPD. glycerol metabolic process|lipid metabolic process|nervous system development endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm glycerophosphodiester phosphodiesterase activity p.I511I(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2) 20 AGATGCCCACGATGAGGGTGA 0.632000 10 60 0 0 0.008291 0 0 ME3 10873 broad.mit.edu 37 11 86157451 86157451 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:86157451C>T ENST00000543262.1 - 13 1785 c.1459G>A c.(1459-1461)Gga>Aga p.G487R RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Missense_Mutation_p.G487R|ME3_ENST00000393324.3_Missense_Mutation_p.G487R NM_001161586.1 NP_001155058.1 Q16798 MAON_HUMAN malic enzyme 3, NADP(+)-dependent, mitochondrial 487 aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process mitochondrial matrix malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1) 27 Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252) NADH(DB00157) GCATTGTTTCCCTGCCCAGGA 0.557000 13 75 0 0 0.001855 0 0 PAN2 9924 broad.mit.edu 37 12 56721365 56721365 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:56721365G>A ENST00000425394.2 - 6 1078 c.702C>T c.(700-702)gcC>gcT p.A234A PAN2_ENST00000440411.3_Silent_p.A234A|PAN2_ENST00000257931.5_Silent_p.A234A|PAN2_ENST00000548043.1_Silent_p.A234A NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 234 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TTCCTGAGAAGGCATCAAACT 0.468000 18 65 0 0 0.006122 0 0 ROR2 4920 broad.mit.edu 37 9 94485998 94485998 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:94485998C>T ENST00000375708.3 - 9 2976 c.2778G>A c.(2776-2778)ctG>ctA p.L926L ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 926 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CACAGTCCCCCAGCAGCTCAG 0.647000 13 86 0 0 0.013537 0 0 STXBP5L 9515 broad.mit.edu 37 3 120973939 120973939 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:120973939G>A ENST00000273666.6 + 16 1910 c.1639G>A c.(1639-1641)Gaa>Aaa p.E547K STXBP5L_ENST00000497029.1_Missense_Mutation_p.E547K|STXBP5L_ENST00000492541.1_Missense_Mutation_p.E547K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E547K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E547K NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 547 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) CAGCAGACATGAAATTACAAC 0.308000 6 24 0 0 0.001168 0 0 SCN1A 6323 broad.mit.edu 37 2 166896038 166896038 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:166896038G>A ENST00000423058.2 - 14 2501 c.2484C>T c.(2482-2484)ttC>ttT p.F828F AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.F828F|SCN1A_ENST00000375405.3_Silent_p.F817F|SCN1A_ENST00000409050.1_Silent_p.F800F|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 828 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGCCTTCTTGGAAATAATAGT 0.373000 10 33 0 0 0.008291 0 0 GAS2L2 246176 broad.mit.edu 37 17 34079577 34079577 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:34079577G>A ENST00000254466.6 - 1 320 c.293C>T c.(292-294)tCc>tTc p.S98F GAS2L2_ENST00000587565.1_Missense_Mutation_p.S98F NM_139285.3 NP_644814.1 Q8NHY3 GA2L2_HUMAN growth arrest-specific 2 like 2 98 CH. cell cycle arrest cytoplasm|cytoskeleton central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCATTGCAGGAGACCCCGAC 0.612000 24 97 0 0 0.003330 0 0 YLPM1 56252 broad.mit.edu 37 14 75266069 75266069 + Nonsense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:75266069C>T ENST00000325680.7 + 5 4193 c.4069C>T c.(4069-4071)Cga>Tga p.R1357* YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R1162* NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1162 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck p.R1357*(1)|p.R1162*(1) breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) AGAAAGAAATCGAGAGCATGG 0.473000 33 126 0 0 0.012213 0 0 BVES 11149 broad.mit.edu 37 6 105564691 105564691 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:105564691C>T ENST00000314641.5 - 6 917 c.701G>A c.(700-702)aGa>aAa p.R234K BVES_ENST00000336775.5_Missense_Mutation_p.R234K|BVES_ENST00000446408.2_Missense_Mutation_p.R234K NM_001199563.1 NP_001186492.1 Q8NE79 POPD1_HUMAN blood vessel epicardial substance 234 epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport integral to membrane|lateral plasma membrane|tight junction structural molecule activity NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1) 21 all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238) GTATGTTAATCTTTCTCTTGA 0.338000 5 29 0 0 0.001168 0 0 NEU3 10825 broad.mit.edu 37 11 74717525 74717525 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:74717525C>T ENST00000294064.4 + 3 2301 c.1374C>T c.(1372-1374)ttC>ttT p.F458F NEU3_ENST00000529024.1_Intron|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000531509.1_Silent_p.F458F|NEU3_ENST00000544263.1_Silent_p.F425F|NEU3_ENST00000545272.1_Silent_p.F349F NM_006656.5 NP_006647.3 A8K327 A8K327_HUMAN sialidase 3 (membrane sialidase) 458 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 CAAGCCAATTCAAAAGCAATT 0.468000 20 83 0 0 0.014323 0 0 SIM1 6492 broad.mit.edu 37 6 100841510 100841510 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:100841510C>T ENST00000369208.3 - 11 2205 c.1423G>A c.(1423-1425)Ggc>Agc p.G475S SIM1_ENST00000262901.4_Missense_Mutation_p.G475S P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 475 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AAGTACCTGCCTGCCTCACAT 0.637000 13 74 0 0 0.003163 0 0 ESM1 11082 broad.mit.edu 37 5 54275181 54275181 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:54275181C>T ENST00000381405.4 - 3 679 c.534G>A c.(532-534)agG>agA p.R178R ESM1_ENST00000381403.4_Silent_p.R128R|ESM1_ENST00000598310.1_5'UTR NM_007036.4 NP_008967.1 Q9NQ30 ESM1_HUMAN endothelial cell-specific molecule 1 178 angiogenesis|regulation of cell growth extracellular region growth factor activity|insulin-like growth factor binding breast(1)|kidney(1)|large_intestine(4)|lung(4) 10 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116) Lung(15;0.23) TTAACCATTTCCTCATTACGG 0.438000 14 120 0 0 0.006122 0 0 PLA2R1 22925 broad.mit.edu 37 2 160898553 160898553 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:160898553C>T ENST00000283243.7 - 3 856 c.650G>A c.(649-651)gGa>gAa p.G217E PLA2R1_ENST00000392771.1_Missense_Mutation_p.G217E NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 217 Fibronectin type-II. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 AGGGCAAAATCCCCACTTTTC 0.388000 17 71 0 0 0.010504 0 0 CDRT1 374286 broad.mit.edu 37 17 15516116 15516116 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:15516116C>T ENST00000455584.2 - 11 1994 c.1951G>A c.(1951-1953)Gat>Aat p.D651N CDRT1_ENST00000395906.3_Missense_Mutation_p.D341N TAATTAGGATCAATTCCTCTT 0.403000 13 82 0 0 0.013537 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808159 18808159 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:18808159G>A ENST00000400664.1 + 1 736 c.684G>A c.(682-684)gtG>gtA p.V228V NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 228 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) TCACCCGTGTGATAGGGGTCA 0.602000 16 58 0 0 0.004007 0 0 GABRQ 55879 broad.mit.edu 37 X 151821280 151821280 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:151821280C>T ENST00000370306.2 + 9 1455 c.1435C>T c.(1435-1437)Cct>Tct p.P479S NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 479 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CAGTATTTTTCCTACCGAAAT 0.542000 27 58 0 0 0.006320 0 0 WDR96 80217 broad.mit.edu 37 10 105893391 105893391 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:105893391C>T ENST00000357060.3 - 35 4698 c.4583G>A c.(4582-4584)aGa>aAa p.R1528K WDR96_ENST00000428666.1_Missense_Mutation_p.R1500K|WDR96_ENST00000479392.1_5'UTR NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 1528 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTGACGATCTCTTGAAAAAAA 0.328000 5 34 0 0 0.001168 0 0 DNAH9 1770 broad.mit.edu 37 17 11511499 11511499 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:11511499G>A ENST00000262442.3 + 2 539 c.471G>A c.(469-471)atG>atA p.M157I DNAH9_ENST00000579828.1_Missense_Mutation_p.M157I|DNAH9_ENST00000454412.2_Missense_Mutation_p.M157I|DNAH9_ENST00000579406.1_3'UTR NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 157 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) GGCCCCACATGATATGTGAGG 0.512000 29 137 0 0 0.008361 0 0 DENND1B 163486 broad.mit.edu 37 1 197552297 197552297 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:197552297G>A ENST00000235453.4 - 15 1321 c.1044C>T c.(1042-1044)ctC>ctT p.L348L DENND1B_ENST00000400967.2_Silent_p.L348L|DENND1B_ENST00000367396.3_Silent_p.L378L Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B 378 dDENN. 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 TAAAAAGCTGGAGGTTAATGG 0.383000 17 70 0 0 0.008871 0 0 IGHV2-70 28454 broad.mit.edu 37 14 107179260 107179260 + RNA SNP C C T rs140988424 by1000genomes TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:107179260C>T ENST00000390634.2 - 0 78 AAAGTATGTCCATGGTGGAGA 0.532000 4 31 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179591999 179591999 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:179591999C>T ENST00000589042.1 - 69 20317 c.20093G>A c.(20092-20094)aGa>aAa p.R6698K TTN_ENST00000342992.6_Missense_Mutation_p.R5454K|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R6381K|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 6381 Ig-like 48. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCACACAACTCTGATTTCTGG 0.418000 5 26 0 0 0.000602 0 0 ALDOB 229 broad.mit.edu 37 9 104190787 104190787 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:104190787G>A ENST00000374855.4 - 4 467 c.343C>T c.(343-345)Cct>Tct p.P115S ALDOB_ENST00000468981.2_Intron NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 115 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) CCTGCAAGAGGAGCACCTCCT 0.403000 23 80 0 0 0.003330 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64756156 64756156 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:64756156T>C ENST00000536360.1 - 4 1285 c.472A>G c.(472-474)Att>Gtt p.I158V Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 6 158 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TCTGTAGCAATAACACCATGC 0.299000 13 68 0 0 0.013537 0 0 PKDCC 91461 broad.mit.edu 37 2 42280438 42280438 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:42280438G>A ENST00000294964.5 + 2 879 c.699G>A c.(697-699)acG>acA p.T233T NM_138370.2 NP_612379.2 Q504Y2 PKDCC_HUMAN protein kinase domain containing, cytoplasmic 233 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(2)|kidney(1)|lung(5) 8 CCACCATCACGGAGCTGGGCG 0.612000 16 114 0 0 0.004990 0 0 TPRA1 131601 broad.mit.edu 37 3 127292431 127292431 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:127292431G>A ENST00000355552.3 - 11 1431 c.1055C>T c.(1054-1056)tCc>tTc p.S352F TPRA1_ENST00000489960.1_Missense_Mutation_p.S352F|TPRA1_ENST00000450633.2_Missense_Mutation_p.S352F|TPRA1_ENST00000296210.7_3'UTR NM_001136053.1 NP_001129525.1 Q86W33 TPRA1_HUMAN transmembrane protein, adipocyte asscociated 1 352 aging|lipid metabolic process integral to membrane G-protein coupled receptor activity endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 9 GCAGGGCATGGAAGCGATGTC 0.662000 13 67 0 0 0.003163 0 0 LPCAT1 79888 broad.mit.edu 37 5 1494858 1494858 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:1494858G>A ENST00000283415.3 - 3 582 c.450C>T c.(448-450)tcC>tcT p.S150S NM_024830.3 NP_079106.3 Q8NF37 PCAT1_HUMAN lysophosphatidylcholine acyltransferase 1 150 phospholipid biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534) GBM - Glioblastoma multiforme(108;0.156) TCATCACGATGGAGGACATCG 0.632000 13 63 0 0 0.002450 0 0 GALNT8 26290 broad.mit.edu 37 12 4829912 4829912 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:4829912C>T ENST00000252318.2 + 1 406 c.69C>T c.(67-69)ctC>ctT p.L23L RP11-234B24.6_ENST00000544741.2_Intron NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 23 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 CTGTCAATCTCCTTCTGGTAT 0.507000 19 72 0 0 0.010504 0 0 NRXN1 9378 broad.mit.edu 37 2 51254734 51254734 + Silent SNP C C G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:51254734C>G ENST00000404971.1 - 2 2017 c.678G>C c.(676-678)ggG>ggC p.G226G NRXN1_ENST00000406859.3_Silent_p.G226G|NRXN1_ENST00000405472.3_Silent_p.G226G|NRXN1_ENST00000405581.1_Silent_p.G226G|NRXN1_ENST00000406316.2_Silent_p.G226G|NRXN1_ENST00000402717.3_Silent_p.G226G|NRXN1_ENST00000401669.2_Silent_p.G226G NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 226 EGF-like 1. 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) TGAGGCACACCCCGCCCTCGC 0.706000 9 17 0 0 0.004482 0 0 CR2 1380 broad.mit.edu 37 1 207641898 207641898 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:207641898C>T ENST00000367057.3 + 3 661 c.472C>T c.(472-474)Cct>Tct p.P158S CR2_ENST00000367059.3_Missense_Mutation_p.P158S|CR2_ENST00000367058.3_Missense_Mutation_p.P158S|CR2_ENST00000458541.2_Missense_Mutation_p.P158S|CR2_ENST00000485707.1_3'UTR NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 158 Sushi 3. 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 TCCAGCACTTCCTATGATCCA 0.453000 5 50 0 0 0.000602 0 0 CUX1 1523 broad.mit.edu 37 7 101747641 101747641 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:101747641G>A ENST00000360264.3 + 6 485 c.465G>A c.(463-465)gaG>gaA p.E155E CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Silent_p.E144E|CUX1_ENST00000393824.3_Silent_p.E118E|CUX1_ENST00000292538.4_Silent_p.E155E|CUX1_ENST00000292535.7_Silent_p.E144E|CUX1_ENST00000437600.4_Silent_p.E155E|CUX1_ENST00000556210.1_Silent_p.E144E|CUX1_ENST00000549414.2_Silent_p.E144E|CUX1_ENST00000547394.2_Silent_p.E139E|CUX1_ENST00000425244.2_Silent_p.E109E|CUX1_ENST00000550008.2_Silent_p.E144E NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 144 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 CACTTAAAGAGAAAATCCGAG 0.388000 18 110 0 0 0.006122 0 0 OTOF 9381 broad.mit.edu 37 2 26703111 26703111 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:26703111C>T ENST00000272371.2 - 16 1998 c.1872G>A c.(1870-1872)cgG>cgA p.R624R OTOF_ENST00000403946.3_Silent_p.R624R NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 624 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCCGTTTCTCCGGTCGATCA 0.582000 13 82 0 0 0.003163 0 0 NAALAD2 10003 broad.mit.edu 37 11 89909215 89909215 + Silent SNP T T G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:89909215T>G ENST00000534061.1 + 15 1808 c.1578T>G c.(1576-1578)cgT>cgG p.R526R NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.R493R NM_005467.3 NP_005458.1 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 526 NAALADase. 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) GCAGAGCCCGTTACACTAAGA 0.388000 7 41 0 0 0.004482 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762216 130762216 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:130762216C>T ENST00000392429.1 + 2 3027 c.649C>T c.(649-651)Cgg>Tgg p.R217W TMEM200A_ENST00000545622.1_Missense_Mutation_p.R217W|TMEM200A_ENST00000296978.3_Missense_Mutation_p.R217W NM_052913.2 NP_443145.1 Q86VY9 T200A_HUMAN transmembrane protein 200A 217 integral to membrane NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) CTCGGGTTTTCGGAGCAGTTT 0.478000 8 24 0 0 0.003080 0 0 SNHG14 104472715 broad.mit.edu 37 15 25427746 25427746 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr15:25427746C>T ENST00000424208.1 + 0 272 NR_003305.1 TGCGCTCCTCCTTGAGGCAGC 0.622000 3 16 0 0 0.004672 0 0 MAN1A2 10905 broad.mit.edu 37 1 117984892 117984892 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:117984892C>T ENST00000356554.3 + 6 1630 c.895C>T c.(895-897)Ctt>Ttt p.L299F NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 299 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) TGAGAAACTCCTTCCTGCCTT 0.343000 8 65 0 0 0.006214 0 0 USP6NL 9712 broad.mit.edu 37 10 11504989 11504989 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:11504989G>A ENST00000379237.1 - 15 2332 c.1938C>T c.(1936-1938)ttC>ttT p.F646F USP6NL_ENST00000277575.5_Silent_p.F663F NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 646 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 TGGCAGTAGGGAAGTGTTTGG 0.547000 3 26 0 0 0.004672 0 0 CYP4A11 1579 broad.mit.edu 37 1 47402994 47402994 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:47402994C>T ENST00000310638.4 - 3 393 c.362G>A c.(361-363)aGa>aAa p.R121K CYP4A11_ENST00000457840.2_Missense_Mutation_p.R17K|CYP4A11_ENST00000371905.1_Missense_Mutation_p.R121K|CYP4A11_ENST00000371904.4_Missense_Mutation_p.R121K|CYP4A11_ENST00000475477.1_5'UTR NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 11 121 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) AGCCAGGAATCTGTAGGAACC 0.448000 6 44 0 0 0.004482 0 0 MYO18B 84700 broad.mit.edu 37 22 26224751 26224751 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:26224751C>T ENST00000335473.7 + 15 3045 c.2795C>T c.(2794-2796)tCc>tTc p.S932F MYO18B_ENST00000536101.1_Missense_Mutation_p.S932F|MYO18B_ENST00000407587.2_Missense_Mutation_p.S932F NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 932 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 AGATCCTTTTCCTCCCACCAT 0.567000 11 58 0 0 0.001855 0 0 TRAV23DV6 28660 broad.mit.edu 37 14 22555063 22555063 + RNA SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr14:22555063G>A ENST00000390451.2 + 0 234 ACTTTCCATGGTACCAACAAT 0.398000 3 15 0 0 0.004672 0 0 SLC6A16 28968 broad.mit.edu 37 19 49813343 49813343 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:49813343G>A ENST00000454748.3 - 4 855 c.654C>T c.(652-654)ccC>ccT p.P218P SLC6A16_ENST00000335875.4_Silent_p.P218P Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 218 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) CCCATGGAACGGGAAACTGGA 0.478000 14 77 0 0 0.004990 0 0 HOMER1 9456 broad.mit.edu 37 5 78672020 78672020 + Splice_Site SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:78672020C>T ENST00000334082.6 - 9 2319 c.876_splice c.e9-1 p.E293_splice HOMER1_ENST00000535690.1_Splice_Site_p.E119_splice|HOMER1_ENST00000282260.6_Splice_Site_p.E163_splice|HOMER1_ENST00000508576.1_Splice_Site_p.R176_splice NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 293 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) ATTTCTACTTCCTTCAGAAAC 0.363000 10 43 0 0 0.006214 0 0 PTPRB 5787 broad.mit.edu 37 12 70960386 70960386 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:70960386C>T ENST00000334414.6 - 15 3777 c.3733G>A c.(3733-3735)Gat>Aat p.D1245N PTPRB_ENST00000550857.1_Missense_Mutation_p.D937N|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1157N|PTPRB_ENST00000551525.1_Missense_Mutation_p.D1244N|PTPRB_ENST00000538708.1_Intron|PTPRB_ENST00000451516.2_Missense_Mutation_p.D937N|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1027N NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1027 Fibronectin type-III 14. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) AGCAGGATATCATATCTTTCT 0.423000 19 70 0 0 0.007413 0 0 GPATCH2 55105 broad.mit.edu 37 1 217793136 217793136 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:217793136G>A ENST00000366935.3 - 2 872 c.762C>T c.(760-762)ctC>ctT p.L254L GPATCH2_ENST00000366934.3_Silent_p.L254L NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 254 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) TTTCACTCATGAGCTCATCTG 0.294000 4 34 0 0 0.009096 0 0 CEP72 55722 broad.mit.edu 37 5 640714 640714 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:640714G>A ENST00000264935.5 + 9 1624 c.1534G>A c.(1534-1536)Gag>Aag p.E512K CEP72_ENST00000444221.1_3'UTR NM_018140.3 NP_060610.2 Q9P209 CEP72_HUMAN centrosomal protein 72kDa 512 G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization centrosome|cytosol autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2) 20 Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863) CACACACAAGGAGCTGGTGAG 0.622000 4 33 0 0 0.009096 0 0 TTN 7273 broad.mit.edu 37 2 179464536 179464536 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:179464536C>T ENST00000589042.1 - 289 56316 c.56092G>A c.(56092-56094)Gaa>Aaa p.E18698K TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E16130K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9825K|TTN_ENST00000460472.2_Missense_Mutation_p.E9633K|TTN_ENST00000591111.1_Missense_Mutation_p.E17057K|TTN_ENST00000359218.5_Missense_Mutation_p.E9758K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17057 Fibronectin type-III 35. 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) TTGGTTCCTTCTTCAACCTCC 0.383000 10 39 0 0 0.010729 0 0 TAAR6 319100 broad.mit.edu 37 6 132892276 132892276 + Silent SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr6:132892276A>G ENST00000275198.1 + 1 816 c.816A>G c.(814-816)ttA>ttG p.L272L NM_175067.1 NP_778237.1 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 272 plasma membrane G-protein coupled receptor activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 41 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TTTCATGGTTACCATATAGCA 0.413000 17 57 0 0 0.004007 0 0 AKAP1 8165 broad.mit.edu 37 17 55193564 55193564 + Nonsense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:55193564C>T ENST00000337714.3 + 7 2607 c.2374C>T c.(2374-2376)Cga>Tga p.R792* AKAP1_ENST00000572557.1_Nonsense_Mutation_p.R792*|AKAP1_ENST00000539273.1_Nonsense_Mutation_p.R792*|AKAP1_ENST00000571629.1_Nonsense_Mutation_p.R792* NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 792 Tudor. blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) AGTGGAGATTCGATACGTGGA 0.607000 4 69 0 0 0.001168 0 0 ABCC11 85320 broad.mit.edu 37 16 48248827 48248827 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr16:48248827G>A ENST00000394747.1 - 8 1562 c.1213C>T c.(1213-1215)Cac>Tac p.H405Y ABCC11_ENST00000394748.1_Missense_Mutation_p.H405Y|ABCC11_ENST00000537808.1_Missense_Mutation_p.H405Y|ABCC11_ENST00000353782.5_Missense_Mutation_p.H405Y|ABCC11_ENST00000356608.2_Missense_Mutation_p.H405Y NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 405 ABC transmembrane type-1 1. 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) AAGGATGTGTGGATGAGAACC 0.483000 8 36 0 0 0.004482 0 0 UNC5A 90249 broad.mit.edu 37 5 176295819 176295819 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:176295819C>T ENST00000329542.4 + 5 849 c.575C>T c.(574-576)cCg>cTg p.P192L UNC5A_ENST00000261961.3_Missense_Mutation_p.P152L NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 192 Ig-like C2-type. 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) CTGGTGGACCCGTCCCTGGAC 0.662000 21 53 0 0 0.002780 0 0 CDH9 1007 broad.mit.edu 37 5 26881640 26881640 + Missense_Mutation SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:26881640A>G ENST00000231021.4 - 12 2147 c.1975T>C c.(1975-1977)Tac>Cac p.Y659H NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 659 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 TCATCGTTGTAGGTCACAATG 0.423000 19 130 0 0 0.010504 0 0 C1orf87 127795 broad.mit.edu 37 1 60505758 60505758 + Missense_Mutation SNP T T C TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:60505758T>C ENST00000371201.3 - 5 685 c.578A>G c.(577-579)aAc>aGc p.N193S C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 193 calcium ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 TTCTAATAAGTTGGAACTCAA 0.448000 17 65 0 0 0.004990 0 0 DNAH5 1767 broad.mit.edu 37 5 13931219 13931219 + Splice_Site SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:13931219C>T ENST00000265104.4 - 2 296 c.192_splice c.e2+1 p.Q64_splice NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 64 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGCATCCCACCTGATTCCCTT 0.502000 Kartagener syndrome 5 54 0 0 0.001984 0 0 FAM71A 149647 broad.mit.edu 37 1 212798721 212798721 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:212798721G>A ENST00000294829.3 + 1 933 c.502G>A c.(502-504)Gaa>Aaa p.E168K RP11-338C15.5_ENST00000427949.1_RNA NM_153606.3 NP_705834.2 Q8IYT1 FA71A_HUMAN family with sequence similarity 71, member A 168 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094) TGCCTATTGGGAAAAACTAAT 0.498000 34 144 0 0 0.003755 0 0 ZNF341 84905 broad.mit.edu 37 20 32357965 32357965 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:32357965C>T ENST00000375200.1 + 10 1854 c.1489C>T c.(1489-1491)Cac>Tac p.H497Y ZNF341_ENST00000342427.2_Missense_Mutation_p.H490Y Q9BYN7 ZN341_HUMAN zinc finger protein 341 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CATCAAGAGCCACCAGGAGGA 0.597000 13 31 0 0 0.002450 0 0 ZNF530 348327 broad.mit.edu 37 19 58118641 58118641 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:58118641C>T ENST00000332854.6 + 3 1968 c.1748C>T c.(1747-1749)tCc>tTc p.S583F ZNF530_ENST00000597864.1_Intron NM_020880.3 NP_065931.3 Q6P9A1 ZN530_HUMAN zinc finger protein 530 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TGTGGAAAATCCTTTAGCCAA 0.378000 10 22 0 0 0.008291 0 0 ANKS1B 56899 broad.mit.edu 37 12 99201651 99201651 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr12:99201651G>A ENST00000550693.2 - 5 860 c.607C>T c.(607-609)Cct>Tct p.P203S ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000332712.7_Missense_Mutation_p.P203S|ANKS1B_ENST00000333732.7_Missense_Mutation_p.P43S|ANKS1B_ENST00000546960.1_Intron|ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000549025.2_Missense_Mutation_p.P111S|ANKS1B_ENST00000549493.2_Missense_Mutation_p.P263S|ANKS1B_ENST00000549558.2_Intron NM_001204069.1|NM_001204070.1 NP_001190998.1|NP_001190999.1 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 991 Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GCTGAGAAAGGAAATCCTGCG 0.388000 3 17 0 0 0.001168 0 0 IGKV1D-12 28903 broad.mit.edu 37 2 90199105 90199105 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:90199105C>T ENST00000390276.2 + 0 447 GGCAGTGGATCTGGGACAGAT 0.502000 22 117 0 0 0.005443 0 0 RP11-337C18.8 0 broad.mit.edu 37 1 146650562 146650562 + RNA SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:146650562C>T ENST00000607149.1 + 0 350 CAAAGAAATTCCTGGATGCTG 0.433000 6 19 0 0 0.001984 0 0 PRKCQ 5588 broad.mit.edu 37 10 6553016 6553016 + Translation_Start_Site SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:6553016C>T ENST00000539722.1 - 0 296 PRKCQ_ENST00000397176.2_Missense_Mutation_p.V87M|PRKCQ_ENST00000263125.5_Missense_Mutation_p.V87M Q04759 KPCT_HUMAN protein kinase C, theta 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 TAGAGCTCCACGGTGGTTTCA 0.483000 16 95 0 0 0.004007 0 0 LRRTM2 26045 broad.mit.edu 37 5 138208982 138208982 + Missense_Mutation SNP A A T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:138208982A>T ENST00000274711.6 - 2 1646 c.1268T>A c.(1267-1269)gTa>gAa p.V423E LRRTM2_ENST00000518785.1_3'UTR|CTNNA1_ENST00000518825.1_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000302763.7_Intron|LRRTM2_ENST00000521094.2_Intron|CTNNA1_ENST00000520400.1_Intron NM_015564.2 NP_056379.1 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 423 cell junction|integral to membrane|postsynaptic membrane NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) TCCCGTAATTACCCGCTGAGT 0.413000 24 100 0 0 0.005443 0 0 MXRA5 25878 broad.mit.edu 37 X 3241355 3241355 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chrX:3241355G>A ENST00000217939.6 - 5 2525 c.2371C>T c.(2371-2373)Cgt>Tgt p.R791C NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 791 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) TTTTTCCCACGGACTTTGGCT 0.453000 17 37 0 0 0.004990 0 0 DNAH17 8632 broad.mit.edu 37 17 76525692 76525692 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr17:76525692C>T ENST00000389840.5 - 22 3493 c.3369G>A c.(3367-3369)gtG>gtA p.V1123V DNAH17_ENST00000585328.1_Silent_p.V1120V 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) CCATCACCTCCACAAGCCCAT 0.562000 17 84 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9070856 9070856 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:9070856G>A ENST00000397910.4 - 3 16793 c.16590C>T c.(16588-16590)tcC>tcT p.S5530S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5532 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 GGTCTGAGATGGATGTTCTGC 0.483000 18 79 0 0 0.007413 0 0 NGEF 25791 broad.mit.edu 37 2 233756070 233756070 + Nonsense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr2:233756070G>A ENST00000264051.3 - 8 1548 c.1270C>T c.(1270-1272)Cag>Tag p.Q424* NGEF_ENST00000373552.4_Nonsense_Mutation_p.Q332*|NGEF_ENST00000539537.1_Nonsense_Mutation_p.Q147* NM_019850.2 NP_062824.2 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 424 DH. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4) 35 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GGCTGTACCTGGACCAACAGC 0.602000 20 79 0 0 0.014323 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214382 140214382 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr5:140214382G>A ENST00000525929.1 + 1 414 c.414G>A c.(412-414)agG>agA p.R138R PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.R138R NM_018910.2 NP_061733.1 p.R138S(2) 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) CGACACAAAGGAATCTGTTCA 0.567000 24 58 0 0 0.003330 0 0 ANKRD54 129138 broad.mit.edu 37 22 38240228 38240228 + Silent SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr22:38240228C>T ENST00000215941.4 - 1 210 c.18G>A c.(16-18)ggG>ggA p.G6G ANKRD54_ENST00000411961.2_Silent_p.G6G NM_138797.2 NP_620152.1 Q6NXT1 ANR54_HUMAN ankyrin repeat domain 54 6 lung(1) 1 Melanoma(58;0.045) CGTCCGCGTCCCCGGCGGCGG 0.736000 3 14 0 0 0.004672 0 0 SLC35B4 84912 broad.mit.edu 37 7 133986839 133986839 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:133986839G>A ENST00000378509.4 - 5 667 c.368C>T c.(367-369)tCc>tTc p.S123F NM_032826.4 NP_116215.1 Q969S0 S35B4_HUMAN solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 123 Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity large_intestine(1)|lung(2)|skin(1)|stomach(1) 5 CAGGGCAATGGAGGTATATTT 0.343000 18 92 0 0 0.007413 0 0 TYK2 7297 broad.mit.edu 37 19 10464889 10464889 + Silent SNP A A G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:10464889A>G ENST00000525621.1 - 20 3218 c.2737T>C c.(2737-2739)Ttg>Ctg p.L913L TYK2_ENST00000264818.6_Silent_p.L913L|TYK2_ENST00000524462.1_Silent_p.L728L NM_003331.4 NP_003322.3 P29597 TYK2_HUMAN tyrosine kinase 2 913 Protein kinase 2. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) TAGCAGTACAAGCTGACCTTG 0.657000 24 68 0 0 0.003330 0 0 WDFY3 23001 broad.mit.edu 37 4 85752612 85752612 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:85752612G>A ENST00000322366.6 - 8 1130 c.723C>T c.(721-723)acC>acT p.T241T WDFY3_ENST00000295888.4_Silent_p.T241T Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 241 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GACGAGATATGGTCATGAGGA 0.388000 19 83 0 0 0.012319 0 0 C19orf24 55009 broad.mit.edu 37 19 1278918 1278918 + Missense_Mutation SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr19:1278918G>A ENST00000469144.1 + 3 418 c.109G>A c.(109-111)Gag>Aag p.E37K C19orf24_ENST00000409293.4_3'UTR Q9BVV8 CS024_HUMAN chromosome 19 open reading frame 24 11 cytoplasm|extracellular region part|integral to membrane Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014) 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) GCCAACCCGAGAGCTCCTTTT 0.687000 28 82 0 0 0.008361 0 0 PCLO 27445 broad.mit.edu 37 7 82545710 82545710 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr7:82545710G>A ENST00000423517.2 - 7 11929 c.11592C>T c.(11590-11592)ttC>ttT p.F3864F PCLO_ENST00000437081.1_Silent_p.F584F|PCLO_ENST00000333891.8_Silent_p.F3864F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 3795 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TAAACTGGCTGAATTCAGTTT 0.468000 121 271 0 0 0.014410 0 0 UGT2A2 574537 broad.mit.edu 37 4 70504997 70504997 + Missense_Mutation SNP C C T TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr4:70504997C>T ENST00000457664.2 - 1 361 c.362G>A c.(361-363)gGa>gAa p.G121E UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.G322E|UGT2A1_ENST00000503640.1_Intron NM_001105677.2 NP_001099147.2 TAGAAGTTTTCCTAGTTCTTT 0.363000 18 63 0 0 0.006122 0 0 TENM4 26011 broad.mit.edu 37 11 78440604 78440604 + Silent SNP G G A TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr11:78440604G>A ENST00000278550.7 - 22 3685 c.3223C>T c.(3223-3225)Ctg>Ttg p.L1075L NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 CTGATCCTCAGGACAGATTTG 0.577000 9 53 0 0 0.006214 0 0 DDX11L1 100287102 broad.mit.edu 37 1 13290 13291 + RNA DEL CT CT - TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr1:13290_13291delCT ENST00000456328.2 + 0 538_539 NR_046018.2|NR_051986.1 ACCCGGCACCCTGTCCTGGACA 0.569 3 6 --- --- --- --- MST1 4485 broad.mit.edu 37 3 49723322 49723327 + In_Frame_Del DEL GCGCTG GCGCTG - TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr3:49723322_49723327delGCGCTG ENST00000449682.2 - 10 1577_1582 c.1216_1221delCAGCGC c.(1216-1221)del p.QR406del MST1_ENST00000383728.3_3'UTR NM_020998.3 NP_066278.3 P26927 HGFL_HUMAN macrophage stimulating 1 (hepatocyte growth factor-like) 392 Kringle 4. proteolysis extracellular region serine-type endopeptidase activity NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CAGCGGACCAGCGCTGGCACTGGACA 0.704 8 194 --- --- --- --- ADCK5 203054 broad.mit.edu 37 8 145617535 145617549 + Splice_Site DEL GGGGGTGCAAGGTGA GGGGGTGCAAGGTGA - rs11270020 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr8:145617535_145617549delGGGGGTGCAAGGTGA ENST00000308860.6 + 12 1301_1311 c.1267_splice c.e12+1 p.L419_splice NM_174922.3 NP_777582.3 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 419 Protein kinase. integral to membrane protein serine/threonine kinase activity p.?(2) endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2) 8 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA 0.730 3 5 --- --- --- --- LOC440173 440173 broad.mit.edu 37 9 89628125 89628125 + RNA DEL A A - TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr9:89628125delA ENST00000602579.1 - 0 256 NR_027471.1 GTCTCCCTTCAAAAAAAAAAA 0.363 3 5 --- --- --- --- PRLHR 2834 broad.mit.edu 37 10 120353838 120353839 + Frame_Shift_Ins INS - - G TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr10:120353838_120353839insG ENST00000239032.2 - 2 1056_1057 c.918_919insC c.(916-921)caccatfs p.H307fs PRLHR_ENST00000369169.1_Frame_Shift_Ins_p.H307fs NM_004248.2 NP_004239.1 P49683 PRLHR_HUMAN prolactin releasing hormone receptor 307 female pregnancy integral to plasma membrane neuropeptide Y receptor activity p.A307P(1)|p.H306H(1) large_intestine(2)|lung(8)|ovary(1)|skin(1) 12 Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0166) GGGTCGATGGCGTGGGGGTCGA 0.649 14 67 --- --- --- --- CTCFL 140690 broad.mit.edu 37 20 56099187 56099187 + Frame_Shift_Del DEL T T - TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr20:56099187delT ENST00000426658.2 - 1 736 c.75delA c.(73-75)aafs p.K25fs CTCFL_ENST00000243914.3_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000433949.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422109.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000432255.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000429804.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000423479.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000371196.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000422869.2_Frame_Shift_Del_p.K25fs|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000502686.2_Intron Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 25 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CCTTCAGGCCTTTTTCCGGCA 0.502 7 575 --- --- --- --- MIR3648-1 100500862 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-GN-A269-01A-11D-A19A-08 TCGA-GN-A269-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8b8e00a4-a509-48ef-bc77-34845b51bb9d b21836b0-f16e-4eec-a83c-fb42f836194a g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 5 8 --- --- --- ---