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 SLC17A5 26503 broad.mit.edu 37 6 74345112 74345112 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:74345112C>G ENST00000355773.5 - 6 1080 c.812G>C c.(811-813)aGa>aCa p.R271T SLC17A5_ENST00000393019.3_3'UTR|SLC17A5_ENST00000481996.1_5'UTR NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 271 Missing (in ISSD). anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TACCTGATTTCTTAATGATGA 0.274000 12 94 0 0 0.013537 0 0 WDR13 64743 broad.mit.edu 37 X 48460204 48460204 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:48460204G>A ENST00000218056.5 + 6 1369 c.864G>A c.(862-864)atG>atA p.M288I WDR13_ENST00000376729.5_Missense_Mutation_p.M288I NM_001166426.1|NM_017883.4 NP_001159898.1|NP_060353 Q9H1Z4 WDR13_HUMAN WD repeat domain 13 288 cytoplasm|nucleus endometrium(1)|large_intestine(4)|lung(4)|ovary(2) 11 TGCATGTCATGAACATCTCCA 0.602000 3 32 0 0 0.009096 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.3_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 6 184 0 0 0.029380 0 0 CHST2 9435 broad.mit.edu 37 3 142840871 142840871 + Missense_Mutation SNP A A G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:142840871A>G ENST00000309575.3 + 2 2597 c.1213A>G c.(1213-1215)Acg>Gcg p.T405A NM_004267.4 NP_004258.2 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 405 inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2) 22 TATGGCTAAGACGCTGCAGAC 0.652000 4 63 0 0 0.009096 0 0 BPTF 2186 broad.mit.edu 37 17 65889808 65889808 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:65889808C>T ENST00000321892.4 + 8 2817 c.2756C>T c.(2755-2757)tCa>tTa p.S919L BPTF_ENST00000424123.3_Missense_Mutation_p.S780L|BPTF_ENST00000335221.5_Missense_Mutation_p.S919L|BPTF_ENST00000306378.6_Missense_Mutation_p.S793L Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 919 Interaction with MAZ. 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) AACATCCCTTCATCCTTTCTT 0.368000 4 93 0 0 0.021553 0 0 FAT2 2196 broad.mit.edu 37 5 150920280 150920280 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr5:150920280C>G ENST00000261800.5 - 10 8899 c.8887G>C c.(8887-8889)Gag>Cag p.E2963Q NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2963 Cadherin 26. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATCCTCCACTCATCTCCAACT 0.527000 4 69 0 0 0.009096 0 0 FANCM 57697 broad.mit.edu 37 14 45658433 45658433 + Silent SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:45658433G>C ENST00000267430.5 + 20 5293 c.5208G>C c.(5206-5208)ctG>ctC p.L1736L FANCM_ENST00000542564.2_Silent_p.L1710L NM_020937.2 NP_065988.1 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 1736 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 85 AGACATCGCTGAATTTAAAGG 0.418000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 19 237 0 0 0.010504 0 0 RNF125 54941 broad.mit.edu 37 18 29617078 29617078 + Splice_Site SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr18:29617078G>T ENST00000217740.3 + 2 656 c.e2-1 RP11-53I6.2_ENST00000583184.1_RNA NM_017831.3 NP_060301.2 Q96EQ8 RN125_HUMAN ring finger protein 125, E3 ubiquitin protein ligase negative regulation of type I interferon production intracellular ligase activity|zinc ion binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 GTTTGGGGTAGATTCTGCCGT 0.418000 23 371 1.55469e-16 1.7729e-16 0.018920 1 0 RIMS2 9699 broad.mit.edu 37 8 104898276 104898276 + Silent SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr8:104898276C>G ENST00000507740.1 + 2 1109 c.873C>G c.(871-873)ctC>ctG p.L291L RIMS2_ENST00000406091.3_Silent_p.L483L|RIMS2_ENST00000436393.2_Silent_p.L261L|RIMS2_ENST00000262231.10_Silent_p.L291L NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 514 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ATGATTCTCTCAGTTCAGACC 0.438000 HNSCC(12;0.0054) 8 67 0 0 0.038147 0 0 ARHGAP19-SLIT1 100533184 broad.mit.edu 37 10 99025847 99025847 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr10:99025847G>C ENST00000453547.2 - 2 91 c.92C>G c.(91-93)tCt>tGt p.S31C ARHGAP19_ENST00000371027.1_Missense_Mutation_p.S22C|ARHGAP19_ENST00000358531.4_Missense_Mutation_p.S31C|ARHGAP19_ENST00000355366.5_Missense_Mutation_p.S22C|ARHGAP19-SLIT1_ENST00000358308.3_Missense_Mutation_p.S31C|ARHGAP19-SLIT1_ENST00000316676.8_Missense_Mutation_p.S31C p.S31F(1) TCGAAGGGAAGAATCATTGCA 0.393000 5 84 0 0 0.014758 0 0 FLG 2312 broad.mit.edu 37 1 152275618 152275618 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:152275618G>C ENST00000368799.1 - 3 11779 c.11744C>G c.(11743-11745)tCt>tGt p.S3915C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3915 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) TACAGGTGAAGACTGTACATG 0.498000 Ichthyosis 5 101 0 0 0.029380 0 0 ZFR2 23217 broad.mit.edu 37 19 3819052 3819052 + Missense_Mutation SNP T T C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:3819052T>C ENST00000262961.4 - 12 1932 c.1922A>G c.(1921-1923)gAc>gGc p.D641G NM_015174.1 NP_055989.1 Q9UPR6 ZFR2_HUMAN zinc finger RNA binding protein 2 641 intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19) CCTGCGCTTGTCACCCTCTTC 0.682000 2 6 0 0 0.004672 0 0 ZNF429 353088 broad.mit.edu 37 19 21720683 21720683 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:21720683C>G ENST00000358491.4 + 4 2036 c.1828C>G c.(1828-1830)Caa>Gaa p.Q610E ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 610 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 AAGACTTACTCAACATAAGAA 0.358000 7 99 0 0 0.029380 0 0 INSIG1 3638 broad.mit.edu 37 7 155094081 155094081 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:155094081C>T ENST00000340368.4 + 4 869 c.658C>T c.(658-660)Cta>Tta p.L220L INSIG1_ENST00000344756.4_Silent_p.L68L|INSIG1_ENST00000342407.5_Intron NM_005542.4 NP_005533.2 O15503 INSI1_HUMAN insulin induced gene 1 220 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding p.L220V(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2) 19 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CATAGCTTTTCTAGCTACGCT 0.438000 9 107 0 0 0.006214 0 0 TSKU 25987 broad.mit.edu 37 11 76507357 76507357 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:76507357C>T ENST00000527881.1 + 2 1723 c.697C>T c.(697-699)Cac>Tac p.H233Y TSKU_ENST00000333090.4_Missense_Mutation_p.H233Y Q8WUA8 TSK_HUMAN tsukushi, small leucine rich proteoglycan 233 extracellular region NS(1)|large_intestine(4)|lung(6)|urinary_tract(1) 12 Ovarian(111;0.112) AGGCCTTACACACCTGTCTCT 0.667000 8 112 0 0 0.004482 0 0 MDC1 9656 broad.mit.edu 37 6 30670531 30670531 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:30670531C>T ENST00000376406.3 - 13 6636 c.5989G>A c.(5989-5991)Gag>Aag p.E1997K MDC1_ENST00000376405.2_Missense_Mutation_p.E1733K NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1997 BRCT 2.|Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CCTCTCACCTCTAGCAGCCTT 0.512000 Other conserved DNA damage response genes 13 196 0 0 0.020292 0 0 PSMD4 5710 broad.mit.edu 37 1 151238867 151238867 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:151238867G>C ENST00000368884.3 + 8 927 c.847G>C c.(847-849)Gag>Cag p.E283Q PSMD4_ENST00000368881.4_Missense_Mutation_p.E286Q NM_002810.2 NP_002801.1 P55036 PSMD4_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 283 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|DNA repair|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 transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGTATGACTGAGGAAGAGCA 0.552000 12 99 0 0 0.013537 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38173473 38173473 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr8:38173473C>G ENST00000317025.8 - 10 2460 c.1943G>C c.(1942-1944)aGa>aCa p.R648T WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R648T|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R648T NM_023034.1 NP_075447.1 Q9BZ95 NSD3_HUMAN Wolf-Hirschhorn syndrome candidate 1-like 1 648 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) AGATGTGTCTCTGTATGCTGA 0.433000 T NUP98 AML 6 166 0 0 0.021553 0 0 DEPDC7 91614 broad.mit.edu 37 11 33053051 33053051 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:33053051G>C ENST00000311388.3 + 5 1259 c.883G>C c.(883-885)Gat>Cat p.D295H DEPDC7_ENST00000241051.3_Missense_Mutation_p.D304H NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 304 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 ACTTCTGTTTGATGCCATTGG 0.398000 10 124 0 0 0.024245 0 0 PVRL3 25945 broad.mit.edu 37 3 110845149 110845149 + Nonsense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:110845149C>T ENST00000485303.1 + 5 1311 c.1036C>T c.(1036-1038)Caa>Taa p.Q346* PVRL3_ENST00000319792.3_Nonsense_Mutation_p.Q346*|PVRL3_ENST00000493615.1_Nonsense_Mutation_p.Q323* NM_001243286.1|NM_015480.2 NP_001230215.1|NP_056295.1 Q9NQS3 PVRL3_HUMAN poliovirus receptor-related 3 346 Ig-like C2-type 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TTCCCTTGGTCAAAGAAGTGA 0.313000 5 62 0 0 0.021553 0 0 TEX37 200523 broad.mit.edu 37 2 88828645 88828645 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:88828645G>C ENST00000303254.3 + 4 338 c.196G>C c.(196-198)Gat>Cat p.D66H NM_152670.2 NP_689883.1 testis expressed 37 CAAGCTAACAGATGGGTACCC 0.532000 8 84 0 0 0.004482 0 0 PM20D1 148811 broad.mit.edu 37 1 205819093 205819093 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:205819093C>T ENST00000367136.4 - 1 152 c.108G>A c.(106-108)gcG>gcA p.A36A PM20D1_ENST00000460624.1_5'UTR NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 36 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GGATTCGCGACGCCCTTTGAT 0.592000 5 58 0 0 0.014758 0 0 TSSC2 650368 broad.mit.edu 37 11 3427765 3427765 + RNA SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:3427765G>C ENST00000529482.1 + 0 882 CACACGTCCTGCAGTGGCCTG 0.602000 3 32 0 0 0.004672 0 0 EZR 7430 broad.mit.edu 37 6 159191809 159191809 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:159191809C>G ENST00000367075.3 - 10 1245 c.1077G>C c.(1075-1077)aaG>aaC p.K359N EZR_ENST00000392177.4_Missense_Mutation_p.K327N|EZR_ENST00000337147.7_Missense_Mutation_p.K359N NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 359 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TCTCTGCCTTCTTTGTCTTCT 0.567000 T ROS1 NSCLC 10 149 0 0 0.008291 0 0 NCR1 9437 broad.mit.edu 37 19 55420628 55420628 + Missense_Mutation SNP C C T rs142626797 TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:55420628C>T ENST00000594765.1 + 4 405 c.380C>T c.(379-381)tCg>tTg p.S127L NCR1_ENST00000350790.5_Missense_Mutation_p.S32L|NCR1_ENST00000357397.5_Missense_Mutation_p.S20L|NCR1_ENST00000338835.5_Missense_Mutation_p.S127L|NCR1_ENST00000598576.1_Missense_Mutation_p.S115L|NCR1_ENST00000447255.1_Missense_Mutation_p.S127L|NCR1_ENST00000291890.4_Missense_Mutation_p.S127L O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 127 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 18 GBM - Glioblastoma multiforme(193;0.0449) CCCACCCTCTCGGTTCATCCT 0.483000 5 88 0 0 0.021553 0 0 ZNF615 284370 broad.mit.edu 37 19 52496411 52496411 + Missense_Mutation SNP T T C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:52496411T>C ENST00000602063.1 - 6 2267 c.1918A>G c.(1918-1920)Ata>Gta p.I640V ZNF615_ENST00000598071.1_Missense_Mutation_p.I651V|ZNF615_ENST00000391795.3_Missense_Mutation_p.I645V|ZNF615_ENST00000594083.1_Missense_Mutation_p.I651V|ZNF615_ENST00000376716.5_Missense_Mutation_p.I640V Q8N8J6 ZN615_HUMAN zinc finger protein 615 640 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) TGATGTTGTATGAGGCATGTC 0.378000 16 308 0 0 0.024245 0 0 ARHGAP10 79658 broad.mit.edu 37 4 148743974 148743974 + Splice_Site SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:148743974G>A ENST00000336498.3 + 2 489 c.e2+1 NM_024605.3 NP_078881.3 A1A4S6 RHG10_HUMAN Rho GTPase activating protein 10 apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm|plasma membrane cytoskeletal adaptor activity|SH3 domain binding autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 all_hematologic(180;0.151) Renal(17;0.0166) GBM - Glioblastoma multiforme(119;0.0423) CGATGCATAGGTAATTAAACA 0.393000 4 152 0 0 0.009096 0 0 ZNF609 23060 broad.mit.edu 37 15 64968069 64968069 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr15:64968069G>A ENST00000326648.3 + 4 3144 c.3016G>A c.(3016-3018)Gaa>Aaa p.E1006K NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 1006 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 GCAGCAGTACGAAGAACAGCA 0.562000 4 115 0 0 0.014758 0 0 TEX15 56154 broad.mit.edu 37 8 30702398 30702398 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr8:30702398C>G ENST00000256246.2 - 1 4210 c.4136G>C c.(4135-4137)aGa>aCa p.R1379T NM_031271.3 NP_112561.2 Q9BXT5 TEX15_HUMAN testis expressed 15 1379 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTCTTTTTCTCTACAGCTCTG 0.398000 6 174 0 0 0.029380 0 0 MLXIPL 51085 broad.mit.edu 37 7 73010266 73010266 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:73010266C>G ENST00000313375.3 - 14 2139 c.2092G>C c.(2092-2094)Gag>Cag p.E698Q MLXIPL_ENST00000434326.1_Missense_Mutation_p.E604Q|MLXIPL_ENST00000414749.2_Missense_Mutation_p.E696Q|MLXIPL_ENST00000429400.2_Intron|MLXIPL_ENST00000395189.1_Missense_Mutation_p.E605Q|MLXIPL_ENST00000354613.1_Intron NM_032951.2|NM_032953.2 NP_116569.1|NP_116571.1 Q9NP71 WBS14_HUMAN MLX interacting protein-like 698 Helix-loop-helix motif. anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis cytosol|transcription factor complex carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Lung NSC(55;0.0659)|all_lung(88;0.152) AGGATGTACTCAGCTGTCTTC 0.607000 4 26 0 0 0.014758 0 0 SCTR 6344 broad.mit.edu 37 2 120197742 120197742 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:120197742G>A ENST00000019103.5 - 13 1541 c.1274C>T c.(1273-1275)gCc>gTc p.A425V NM_002980.2 NP_002971.2 P47872 SCTR_HUMAN secretin receptor 425 digestion|excretion integral to plasma membrane secretin receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3) 19 Secretin(DB00021) CAAGTGGCTGGCCTTGGTGCT 0.627000 5 24 0 0 0.014758 0 0 ZNF429 353088 broad.mit.edu 37 19 21720336 21720336 + Nonsense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:21720336C>G ENST00000358491.4 + 4 1689 c.1481C>G c.(1480-1482)tCa>tGa p.S494* ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 494 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 AAGCAGTCCTCAAACCTTAAC 0.398000 9 59 0 0 0.004482 0 0 PRSS45 377047 broad.mit.edu 37 3 46783844 46783844 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:46783844G>A ENST00000442359.2 - 4 682 c.683C>T c.(682-684)tCc>tTc p.S228F PRSS50_ENST00000460241.1_Intron NM_199183.2 NP_954652.2 Q7RTY3 PRS45_HUMAN protease, serine, 45 260 Peptidase S1. proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 GGGAGGTCAGGAGCCCATCTG 0.552000 7 168 0 0 0.038147 0 0 ERF 2077 broad.mit.edu 37 19 42754675 42754675 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:42754675G>C ENST00000222329.4 - 2 222 c.65C>G c.(64-66)cCt>cGt p.P22R AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'UTR|ERF_ENST00000440177.2_5'UTR NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 22 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) CCTTGAGCCAGGGGACGACTC 0.642000 4 37 0 0 0.009096 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 77 0 0 0.004672 0 0 LRRC7 57554 broad.mit.edu 37 1 70504020 70504020 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:70504020G>A ENST00000310961.5 + 22 2832 c.2414G>A c.(2413-2415)aGa>aAa p.R805K LRRC7_ENST00000415775.2_Missense_Mutation_p.R84K|LRRC7_ENST00000035383.5_Missense_Mutation_p.R800K Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 800 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 TCGAAATCTAGAAGCACATCT 0.488000 11 181 0 0 0.010729 0 0 MED13 9969 broad.mit.edu 37 17 60028354 60028354 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:60028354C>G ENST00000397786.2 - 28 6199 c.6123G>C c.(6121-6123)caG>caC p.Q2041H NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 2041 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 GATCAGTACTCTGACCCTTAA 0.373000 7 98 0 0 0.004482 0 0 MYOF 26509 broad.mit.edu 37 10 95147619 95147619 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr10:95147619G>A ENST00000371501.4 - 19 1755 c.1633C>T c.(1633-1635)Ctt>Ttt p.L545F MYOF_ENST00000371502.4_Missense_Mutation_p.L545F|MYOF_ENST00000359263.4_Missense_Mutation_p.L545F|MYOF_ENST00000358334.5_Missense_Mutation_p.L532F Q9NZM1 MYOF_HUMAN myoferlin 545 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 GTCTTCTCAAGAAAAGTGGCT 0.423000 6 166 0 0 0.038147 0 0 LAMP3 27074 broad.mit.edu 37 3 182853541 182853541 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:182853541G>C ENST00000265598.3 - 5 1336 c.1081C>G c.(1081-1083)Caa>Gaa p.Q361E LAMP3_ENST00000466939.1_Missense_Mutation_p.Q337E NM_014398.3 NP_055213.2 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 361 cell proliferation integral to membrane|lysosomal membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2) 28 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) TCAAAGGCTTGAAGTTGGACA 0.478000 26 297 0 0 0.021523 0 0 F2R 2149 broad.mit.edu 37 5 76028929 76028929 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr5:76028929C>G ENST00000319211.4 + 2 1144 c.879C>G c.(877-879)atC>atG p.I293M NM_001992.3 NP_001983.2 P25116 PAR1_HUMAN coagulation factor II (thrombin) receptor 293 activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity p.I293I(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) ATGTGTCTATCATTCGATGTC 0.483000 8 137 0 0 0.038147 0 0 ADAT1 23536 broad.mit.edu 37 16 75654613 75654613 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr16:75654613G>A ENST00000307921.3 - 3 230 c.85C>T c.(85-87)Cat>Tat p.H29Y NM_012091.3 NP_036223.2 Q9BUB4 ADAT1_HUMAN adenosine deaminase, tRNA-specific 1 29 tRNA processing metal ion binding|RNA binding|tRNA-specific adenosine deaminase activity breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1) 19 GTCCACTCATGGTTTGGCTCA 0.522000 6 67 0 0 0.021553 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921316 12921316 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:12921316C>G ENST00000240189.2 + 4 1194 c.1107C>G c.(1105-1107)atC>atG p.I369M NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 369 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAGTGCCATCCTGCCTGGCC 0.562000 7 187 0 0 0.038147 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54912718 54912718 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:54912718G>C ENST00000293373.6 + 15 1520 c.1441G>C c.(1441-1443)Gaa>Caa p.E481Q NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E431Q NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 481 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 AGAAAAATTTGAATTCTCAGG 0.403000 8 72 0 0 0.004482 0 0 C7orf60 154743 broad.mit.edu 37 7 112472660 112472660 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:112472660C>G ENST00000297145.4 - 4 709 c.544G>C c.(544-546)Gaa>Caa p.E182Q C7orf60_ENST00000485446.1_5'UTR NM_152556.2 NP_689769.2 Q1RMZ1 CG060_HUMAN chromosome 7 open reading frame 60 182 breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 17 AGAAATTCTTCAAACTTCAGA 0.308000 6 133 0 0 0.029380 0 0 GRASP 160622 broad.mit.edu 37 12 52404711 52404711 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:52404711G>C ENST00000293662.4 + 3 423 c.343G>C c.(343-345)Gag>Cag p.E115Q GRASP_ENST00000552049.1_5'UTR|GRASP_ENST00000552963.1_3'UTR NM_181711.2 NP_859062.1 Q7Z6J2 GRASP_HUMAN GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein 115 PDZ. cell junction|perinuclear region of cytoplasm|postsynaptic membrane central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2) 5 BRCA - Breast invasive adenocarcinoma(357;0.0967) CTTCGGCTTTGAGATCCAGGT 0.547000 11 134 0 0 0.010729 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95129666 95129666 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:95129666G>A ENST00000354268.4 + 2 194 c.121G>A c.(121-123)Gaa>Aaa p.E41K SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E41K Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 41 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TCTTAGTGCTGAAGAGGAGAA 0.438000 7 127 0 0 0.006214 0 0 RLBP1 6017 broad.mit.edu 37 15 89758326 89758326 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr15:89758326C>G ENST00000268125.5 - 6 929 c.490G>C c.(490-492)Gag>Cag p.E164Q NM_000326.4 NP_000317.1 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 164 CRAL-TRIO. response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1) 18 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) TGCCAGTTCTCAATGTTGAAG 0.577000 7 121 0 0 0.038147 0 0 HRG 3273 broad.mit.edu 37 3 186383944 186383944 + Nonsense_Mutation SNP C C T rs146244921 by1000genomes TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:186383944C>T ENST00000232003.4 + 1 204 c.124C>T c.(124-126)Cga>Tga p.R42* HRG_ENST00000468154.1_3'UTR NM_000412.2 NP_000403.1 P04196 HRG_HUMAN histidine-rich glycoprotein 42 Cystatin 1.|Interaction with ATP5A1. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) CAATAAAAGGCGACGGGATGG 0.512000 9 82 0 0 0.004482 0 0 POLE2 5427 broad.mit.edu 37 14 50118050 50118050 + Silent SNP T T C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:50118050T>C ENST00000539565.2 - 15 1397 c.1179A>G c.(1177-1179)ttA>ttG p.L393L POLE2_ENST00000554396.1_Silent_p.L419L|POLE2_ENST00000216367.5_Silent_p.L419L|POLE2_ENST00000556584.1_5'UTR NM_001197330.1 NP_001184259.1 P56282 DPOE2_HUMAN polymerase (DNA directed), epsilon 2, accessory subunit 419 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 DNA binding|DNA-directed DNA polymerase activity kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 10 all_epithelial(31;0.0021)|Breast(41;0.0124) TTTTATTTACTAAGTCTTCAC 0.323000 5 66 0 0 0.021553 0 0 CTPS1 1503 broad.mit.edu 37 1 41471729 41471729 + Missense_Mutation SNP A A G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:41471729A>G ENST00000372621.4 + 13 1767 c.1259A>G c.(1258-1260)aAt>aGt p.N420S CTPS1_ENST00000541520.1_Missense_Mutation_p.N189S|CTPS1_ENST00000372616.1_Missense_Mutation_p.N420S NM_001905.2 NP_001896.2 P17812 PYRG1_HUMAN CTP synthase 1 420 Glutamine amidotransferase type-1. CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding endometrium(3)|lung(10) 13 L-Glutamine(DB00130) TCAGATGCCAATTCTACAGAG 0.408000 3 119 0 0 0.004672 0 0 MSI2 124540 broad.mit.edu 37 17 55674294 55674294 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:55674294G>A ENST00000284073.2 + 8 729 c.520G>A c.(520-522)Gaa>Aaa p.E174K MSI2_ENST00000579180.1_Missense_Mutation_p.E70K|MSI2_ENST00000322684.3_Missense_Mutation_p.E170K|MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Missense_Mutation_p.E113K|MSI2_ENST00000416426.2_Missense_Mutation_p.E152K NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 174 RRM 2. cytoplasm nucleotide binding|RNA binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) TCATTTCCATGAAATCAATAA 0.418000 T HOXA9 CML 5 113 0 0 0.014758 0 0 STYK1 55359 broad.mit.edu 37 12 10780303 10780303 + Silent SNP A A C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:10780303A>C ENST00000075503.3 - 7 1174 c.654T>G c.(652-654)ggT>ggG p.G218G NM_018423.2 NP_060893.2 Q6J9G0 STYK1_HUMAN serine/threonine/tyrosine kinase 1 218 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 CATAGAGAAGACCATCCATAG 0.398000 HNSCC(73;0.22) 9 72 0 0 0.016723 0 0 FAM47A 158724 broad.mit.edu 37 X 34149795 34149795 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:34149795G>A ENST00000346193.3 - 1 652 c.601C>T c.(601-603)Cca>Tca p.P201S NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 201 Pro-rich. NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 GGAGGCTCTGGGAGGAGATGG 0.617000 3 64 0 0 0.004672 0 0 SAMD9 54809 broad.mit.edu 37 7 92734318 92734318 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:92734318C>G ENST00000379958.2 - 3 1362 c.1093G>C c.(1093-1095)Gat>Cat p.D365H NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 365 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) GTTTTAAAATCTGCTTTAAAT 0.333000 9 188 0 0 0.008291 0 0 BUB1 699 broad.mit.edu 37 2 111427076 111427076 + Nonsense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:111427076G>C ENST00000535254.1 - 5 528 c.461C>G c.(460-462)tCa>tGa p.S154* BUB1_ENST00000409311.1_Nonsense_Mutation_p.S174*|BUB1_ENST00000302759.6_Nonsense_Mutation_p.S174* NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 174 BUB1 N-terminal. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) ATTTGATTTTGATGTTATCAT 0.358000 4 116 0 0 0.009096 0 0 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr9:137328351C>T ENST00000540193.1 + 9 1912 c.989C>T c.(988-990)tCc>tTc p.S330F RXRA_ENST00000481739.1_Missense_Mutation_p.S427F|RXRA_ENST00000356384.4_3'UTR P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607000 5 86 0 0 0.021553 0 0 SLC4A10 57282 broad.mit.edu 37 2 162751249 162751249 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:162751249G>C ENST00000375514.5 + 11 1485 c.1198G>C c.(1198-1200)Gag>Cag p.E400Q SLC4A10_ENST00000415876.2_Missense_Mutation_p.E389Q|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E419Q|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000446997.1_Missense_Mutation_p.E419Q|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E389Q|SLC4A10_ENST00000535165.1_Missense_Mutation_p.M389I NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 419 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGGAATTGATGAGTTTCTGGA 0.353000 8 94 0 0 0.006214 0 0 C8B 732 broad.mit.edu 37 1 57409489 57409489 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:57409489G>C ENST00000543257.1 - 9 1524 c.958C>G c.(958-960)Ctt>Gtt p.L320V C8B_ENST00000371237.4_Missense_Mutation_p.L372V|C8B_ENST00000535057.1_Missense_Mutation_p.L310V NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 372 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 ACGTTGTTAAGAGTATAATCT 0.443000 6 112 0 0 0.021553 0 0 DEPDC7 91614 broad.mit.edu 37 11 33054490 33054490 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:33054490G>A ENST00000311388.3 + 8 1668 c.1292G>A c.(1291-1293)gGa>gAa p.G431E DEPDC7_ENST00000241051.3_Missense_Mutation_p.G440E NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 440 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 ATACAGAACGGAAGAGATCCA 0.318000 17 119 0 0 0.008871 0 0 ESPL1 9700 broad.mit.edu 37 12 53662888 53662888 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:53662888G>A ENST00000257934.4 + 3 253 c.162G>A c.(160-162)ctG>ctA p.L54L ESPL1_ENST00000552462.1_Silent_p.L54L NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 54 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 ATGCCATCCTGAGGGCTTGCA 0.552000 6 91 0 0 0.029380 0 0 EPHB4 2050 broad.mit.edu 37 7 100410820 100410820 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:100410820G>A ENST00000358173.3 - 11 2235 c.1767C>T c.(1765-1767)gtC>gtT p.V589V EPHB4_ENST00000360620.3_Silent_p.V589V NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 589 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GGTCGATGTAGACCTTAGTAC 0.507000 4 88 0 0 0.009096 0 0 LRRC66 339977 broad.mit.edu 37 4 52860928 52860928 + Missense_Mutation SNP C C T rs76998469 TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:52860928C>T ENST00000343457.3 - 4 2266 c.2260G>A c.(2260-2262)Gag>Aag p.E754K NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 754 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 ACATTTTCCTCAAGACTGTCT 0.483000 7 120 0 0 0.038147 0 0 DGKQ 1609 broad.mit.edu 37 4 954890 954890 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:954890C>T ENST00000273814.3 - 22 2747 c.2674G>A c.(2674-2676)Gag>Aag p.E892K NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 892 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) ACCCAGGGCTCCCCGTCCACC 0.692000 4 28 0 0 0.009096 0 0 CMAS 55907 broad.mit.edu 37 12 22208488 22208488 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:22208488C>G ENST00000229329.2 + 3 633 c.503C>G c.(502-504)tCt>tGt p.S168C NM_018686.4 NP_061156.1 Q8NFW8 NEUA_HUMAN cytidine monophosphate N-acetylneuraminic acid synthetase 168 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 GGATATGATTCTGTTTTCTCT 0.353000 7 114 0 0 0.029380 0 0 DEPDC7 91614 broad.mit.edu 37 11 33053080 33053080 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:33053080G>A ENST00000311388.3 + 5 1288 c.912G>A c.(910-912)agG>agA p.R304R DEPDC7_ENST00000241051.3_Silent_p.R313R NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 313 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 ACAGTAGTAGGGAACCTCTGT 0.393000 7 129 0 0 0.008291 0 0 CHUK 1147 broad.mit.edu 37 10 101978578 101978578 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr10:101978578C>T ENST00000370397.7 - 8 780 c.694G>A c.(694-696)Gag>Aag p.E232K NM_001278.3 NP_001269.3 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase 232 Protein kinase. I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 27 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) TTAATCTTCTCATGCCTATAA 0.328000 8 93 0 0 0.038147 0 0 PBX1 5087 broad.mit.edu 37 1 164761814 164761814 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:164761814G>A ENST00000420696.2 + 3 537 c.349G>A c.(349-351)Gtg>Atg p.V117M PBX1_ENST00000560641.1_Missense_Mutation_p.V12M|PBX1_ENST00000540236.1_Missense_Mutation_p.V117M|PBX1_ENST00000401534.1_Missense_Mutation_p.V117M|PBX1_ENST00000540246.1_Missense_Mutation_p.V12M|PBX1_ENST00000367897.1_Missense_Mutation_p.V117M|PBX1_ENST00000559240.1_Missense_Mutation_p.V117M 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 1 117 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 AGCGGAAGGCGTGGCGGGGCC 0.622000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 3 18 0 0 0.004672 0 0 SPHKAP 80309 broad.mit.edu 37 2 228883236 228883236 + Missense_Mutation SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:228883236G>T ENST00000392056.3 - 7 2380 c.2334C>A c.(2332-2334)caC>caA p.H778Q SPHKAP_ENST00000344657.5_Missense_Mutation_p.H778Q NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 778 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) GACTCGTGTTGTGTGAATTGC 0.512000 30 451 1.80694e-10 2.04857e-10 0.041601 1 0 EXPH5 23086 broad.mit.edu 37 11 108382830 108382830 + Missense_Mutation SNP C C A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:108382830C>A ENST00000265843.4 - 6 3514 c.3404G>T c.(3403-3405)gGa>gTa p.G1135V EXPH5_ENST00000525344.1_Missense_Mutation_p.G1128V|EXPH5_ENST00000428840.1_Missense_Mutation_p.G1059V|EXPH5_ENST00000443411.1_Missense_Mutation_p.G947V NM_015065.2 NP_055880 Q149M6 Q149M6_HUMAN exophilin 5 1135 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TCCTTCTCTTCCAGTTGAGGC 0.483000 8 129 7.48243e-07 8.29019e-07 0.006214 1 0 DCLK2 166614 broad.mit.edu 37 4 151023764 151023764 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:151023764G>A ENST00000296550.7 + 2 1310 c.556G>A c.(556-558)Gaa>Aaa p.E186K DCLK2_ENST00000302176.8_Missense_Mutation_p.E186K|DCLK2_ENST00000506325.1_Missense_Mutation_p.E186K NM_001040260.3 NP_001035350.2 Q8N568 DCLK2_HUMAN doublecortin-like kinase 2 186 intracellular signal transduction cytoplasm|cytoskeleton ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TGTGAAAAGTGAAGTAAAAGA 0.428000 10 53 0 0 0.008291 0 0 SLC25A6 293 broad.mit.edu 37 X 1508489 1508489 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:1508489G>A ENST00000381401.5 - 2 957 c.243C>T c.(241-243)taC>taT p.Y81Y SLC25A6_ENST00000475167.1_5'UTR NM_001636.3 NP_001627.2 P12236 ADT3_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 81 active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle integral to membrane|mitochondrial inner membrane presequence translocase complex ATP:ADP antiporter activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1) 11 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) Clodronate(DB00720) GAGTGGGGAAGTAGCGAATGA 0.567000 11 189 0 0 0.010729 0 0 VWA7 80737 broad.mit.edu 37 6 31735227 31735227 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:31735227G>C ENST00000375686.3 - 12 1938 c.1701C>G c.(1699-1701)ttC>ttG p.F567L VWA7_ENST00000447450.1_Missense_Mutation_p.F567L|VWA7_ENST00000375688.4_Missense_Mutation_p.F567L|VWA7_ENST00000467576.1_5'UTR NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 567 extracellular region TCACCATCCAGAACTGCCCAA 0.602000 6 108 0 0 0.004482 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208841675 208841675 + Missense_Mutation SNP C C A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:208841675C>A ENST00000457206.1 - 3 1673 c.1246G>T c.(1246-1248)Gac>Tac p.D416Y PLEKHM3_ENST00000389247.4_Missense_Mutation_p.D416Y|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.D416Y Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 416 PH 2. intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TCCAGGTTGTCCATCTGGACA 0.552000 6 58 0.0293803 0.0313069 0.029380 1 0 MUC13 56667 broad.mit.edu 37 3 124646827 124646827 + Silent SNP T T C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:124646827T>C ENST00000311075.3 - 2 101 c.63A>G c.(61-63)caA>caG p.Q21Q MUC13_ENST00000497378.1_5'UTR NM_033049.3 NP_149038 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 21 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 CTGAGTTGCCTTGGTTGGTGG 0.418000 3 140 0 0 0.004672 0 0 ATRX 546 broad.mit.edu 37 X 76939952 76939952 + Missense_Mutation SNP A A T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:76939952A>T ENST00000373344.5 - 9 1010 c.796T>A c.(796-798)Tac>Aac p.Y266N ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Y228N NM_000489.3 NP_000480.3 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 266 ADD. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TGACAAATGTAGCAATACCAT 0.388000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 7 448 0 0 0.029380 0 0 TBC1D1 23216 broad.mit.edu 37 4 37903928 37903928 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:37903928C>T ENST00000261439.4 + 2 567 c.212C>T c.(211-213)tCt>tTt p.S71F TBC1D1_ENST00000508802.1_Missense_Mutation_p.S71F|TBC1D1_ENST00000402522.1_Missense_Mutation_p.S71F NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 71 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GTTTCACCCTCTGGACTGAGA 0.547000 6 168 0 0 0.029380 0 0 ZNF502 91392 broad.mit.edu 37 3 44763393 44763393 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:44763393C>G ENST00000296091.4 + 4 1340 c.1084C>G c.(1084-1086)Cag>Gag p.Q362E ZNF502_ENST00000436624.2_Missense_Mutation_p.Q362E|ZNF502_ENST00000449836.1_Missense_Mutation_p.Q362E NM_001134440.1|NM_001282880.1|NM_033210.4 NP_001127912.1|NP_001269809.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) AGCCTTTTGTCAGAGCCCATC 0.408000 7 72 0 0 0.029380 0 0 DEPDC7 91614 broad.mit.edu 37 11 33054924 33054924 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:33054924G>A ENST00000311388.3 + 9 1808 c.1432G>A c.(1432-1434)Gcc>Acc p.A478T DEPDC7_ENST00000241051.3_Missense_Mutation_p.A487T NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 487 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 AAAACTTTCTGCCAAAGAGAA 0.333000 6 140 0 0 0.029380 0 0 PPM1E 22843 broad.mit.edu 37 17 57058003 57058003 + Missense_Mutation SNP C C A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:57058003C>A ENST00000308249.2 + 7 2008 c.1879C>A c.(1879-1881)Ccc>Acc p.P627T NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 636 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) TGGAGAGTTTCCCACTGCTTT 0.428000 9 260 0.000274275 0.000302168 0.004482 1 0 KIAA1109 84162 broad.mit.edu 37 4 123166210 123166210 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:123166210G>A ENST00000264501.4 + 32 5325 c.4952G>A c.(4951-4953)cGa>cAa p.R1651Q KIAA1109_ENST00000388738.3_Missense_Mutation_p.R1651Q|KIAA1109_ENST00000455637.1_Missense_Mutation_p.R1651Q Q2LD37 K1109_HUMAN KIAA1109 1651 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 GCTAGTACCCGACATCCAGCT 0.343000 8 192 0 0 0.038147 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102304859 102304859 + RNA SNP G G A rs150791489 by1000genomes TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr15:102304859G>A ENST00000561463.1 + 0 12905 CGGAGCTGCTGTCCAACCTGT 0.577000 3 12 0 0 0.004672 0 0 MAP2 4133 broad.mit.edu 37 2 210560016 210560016 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:210560016C>T ENST00000360351.4 + 7 3628 c.3122C>T c.(3121-3123)gCt>gTt p.A1041V MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.A1037V NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 1041 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) CTGGATTTTGCTGTCCAGGGT 0.443000 5 101 0 0 0.014758 0 0 PFAS 5198 broad.mit.edu 37 17 8168266 8168266 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:8168266G>A ENST00000314666.6 + 18 2236 c.2103G>A c.(2101-2103)ctG>ctA p.L701L PFAS_ENST00000545834.1_Silent_p.L277L NM_012393.2 NP_036525.1 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 701 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TGGGGCCCCTGCAAACTCCTC 0.632000 3 8 0 0 0.004672 0 0 FASTKD1 79675 broad.mit.edu 37 2 170417266 170417266 + Missense_Mutation SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:170417266G>T ENST00000453153.2 - 5 948 c.602C>A c.(601-603)tCt>tAt p.S201Y FASTKD1_ENST00000453929.2_Missense_Mutation_p.S201Y NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 201 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 TATTAAAGAAGATATGTTGAC 0.294000 4 48 0.000602214 0.000656044 0.014758 1 0 IQCG 84223 broad.mit.edu 37 3 197665561 197665561 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:197665561C>T ENST00000265239.6 - 5 797 c.373G>A c.(373-375)Gag>Aag p.E125K IQCG_ENST00000455191.1_Missense_Mutation_p.E125K|IQCG_ENST00000453254.1_Missense_Mutation_p.E125K|IQCG_ENST00000480302.1_5'UTR NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 125 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) GGTCCTTCCTCAGTTATTAAC 0.413000 33 497 0 0 0.019004 0 0 A2ML1 144568 broad.mit.edu 37 12 9020914 9020914 + Missense_Mutation SNP C C A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:9020914C>A ENST00000299698.7 + 31 4202 c.4022C>A c.(4021-4023)cCg>cAg p.P1341Q A2ML1_ENST00000539547.1_Missense_Mutation_p.P850Q NM_001282424.1|NM_144670.4 NP_001269353.1|NP_653271 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 1185 extracellular space endopeptidase inhibitor activity p.P1341L(1) 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 TGTGAGCAACCGACTTCACCT 0.488000 17 254 1.15088e-07 1.28978e-07 0.028581 1 0 SUN2 25777 broad.mit.edu 37 22 39141785 39141785 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr22:39141785C>T ENST00000405510.1 - 9 1075 c.717G>A c.(715-717)caG>caA p.Q239Q SUN2_ENST00000406622.1_Silent_p.Q239Q|SUN2_ENST00000411587.2_Silent_p.Q228Q|SUN2_ENST00000216064.4_Silent_p.Q239Q|RP3-508I15.14_ENST00000416406.1_RNA|SUN2_ENST00000405018.1_Silent_p.Q260Q NM_001199580.1 NP_001186509.1 Q9UH99 SUN2_HUMAN Sad1 and UNC84 domain containing 2 239 centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex lamin binding|microtubule binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1) 15 GGTGGAATGTCTGCAGCCCAT 0.617000 4 38 0 0 0.009096 0 0 CEP152 22995 broad.mit.edu 37 15 49076285 49076285 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr15:49076285C>T ENST00000380950.2 - 10 1393 c.1206G>A c.(1204-1206)gtG>gtA p.V402V CEP152_ENST00000399334.3_Silent_p.V402V|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Silent_p.V309V NM_001194998.1|NM_014985.3 NP_001181927.1|NP_055800.2 O94986 CE152_HUMAN centrosomal protein 152kDa 402 centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2) 63 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) CCAGTTGTTTCACGTGATCTT 0.333000 5 66 0 0 0.021553 0 0 DNAJC13 23317 broad.mit.edu 37 3 132166277 132166277 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:132166277C>T ENST00000260818.6 + 4 505 c.257C>T c.(256-258)tCt>tTt p.S86F DNAJC13_ENST00000486798.1_3'UTR NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 86 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TTAAAATTTTCTACAGAGCAC 0.353000 5 83 0 0 0.021553 0 0 ZKSCAN3 80317 broad.mit.edu 37 6 28333833 28333833 + Nonsense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:28333833G>A ENST00000377255.3 + 7 1685 c.1388G>A c.(1387-1389)tGg>tAg p.W463* ZKSCAN3_ENST00000341464.5_Nonsense_Mutation_p.W315*|ZKSCAN3_ENST00000252211.2_Nonsense_Mutation_p.W463* NM_001242894.1 NP_001229823.1 Q9BRR0 ZKSC3_HUMAN zinc finger with KRAB and SCAN domains 3 463 QGEAWKSRMESQLENVETPMS -> TGRGWKVGWKASWKML KLPCP (in Ref. 5; AAB16813). positive regulation of transcription, DNA-dependent|viral reproduction nucleus chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1) 21 GGAGAGGCCTGGAAAAGTAGG 0.433000 5 60 0 0 0.021553 0 0 DBF4 10926 broad.mit.edu 37 7 87516657 87516657 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:87516657C>T ENST00000265728.1 + 5 968 c.464C>T c.(463-465)tCa>tTa p.S155L NM_006716.3 NP_006707.1 Q9UBU7 DBF4A_HUMAN DBF4 homolog (S. cerevisiae) 155 BRCT 2. cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) TTTATTCCTTCAAATAGTATA 0.229000 4 36 0 0 0.009096 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54894397 54894397 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:54894397C>T ENST00000293373.6 + 3 373 c.294C>T c.(292-294)gtC>gtT p.V98V NCKAP1L_ENST00000545638.2_Silent_p.V48V NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 98 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 TTGTGGATGTCATGGAATTTC 0.398000 13 181 0 0 0.016723 0 0 DDX53 168400 broad.mit.edu 37 X 23019978 23019978 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:23019978G>A ENST00000327968.5 + 1 1892 c.1804G>A c.(1804-1806)Gag>Aag p.E602K RP11-40F8.2_ENST00000455399.1_lincRNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 602 nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 AGTAATGGCTGAGCAATACAA 0.383000 4 120 0 0 0.009096 0 0 LRRC46 90506 broad.mit.edu 37 17 45913412 45913412 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:45913412G>A ENST00000269025.4 + 6 759 c.396G>A c.(394-396)caG>caA p.Q132Q NM_033413.3 NP_219481.1 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 132 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 9 AGTTCCCCCAGAGCCTTCTCA 0.522000 7 58 0 0 0.029380 0 0 SLC41A3 54946 broad.mit.edu 37 3 125726027 125726027 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:125726027C>T ENST00000383598.2 - 10 1503 c.1218G>A c.(1216-1218)ctG>ctA p.L406L SLC41A3_ENST00000315891.6_Silent_p.L432L|SLC41A3_ENST00000346785.5_Silent_p.L396L|SLC41A3_ENST00000360370.4_Silent_p.L432L|SLC41A3_ENST00000508835.1_Silent_p.L315L NM_001008487.1 NP_001008487.1 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 432 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) GGTGCCAAGTCAGCCGAACCA 0.547000 4 46 0 0 0.014758 0 0 VWA7 80737 broad.mit.edu 37 6 31734536 31734536 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:31734536G>C ENST00000375686.3 - 14 2125 c.1888C>G c.(1888-1890)Cag>Gag p.Q630E VWA7_ENST00000447450.1_Missense_Mutation_p.Q630E|VWA7_ENST00000375688.4_Missense_Mutation_p.Q630E|VWA7_ENST00000467576.1_5'UTR NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 630 extracellular region AGCTGGGTCTGAAGACCTGGG 0.557000 4 52 0 0 0.009096 0 0 ARHGEF4 50649 broad.mit.edu 37 2 131799455 131799455 + Missense_Mutation SNP A A C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:131799455A>C ENST00000392953.3 + 10 1924 c.1405A>C c.(1405-1407)Aag>Cag p.K469Q ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.K409Q|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.K469Q|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.K469Q|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.K398Q NM_032995.1 NP_127462.1 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor (GEF) 4 469 apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4) 29 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) CAACGAGCGGAAGCGGAGACT 0.562000 3 58 0 0 0.004672 0 0 CCDC142 84865 broad.mit.edu 37 2 74709847 74709847 + Missense_Mutation SNP G G A rs143866681 byFrequency TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:74709847G>A ENST00000393965.3 - 1 514 c.118C>T c.(118-120)Cgc>Tgc p.R40C CCDC142_ENST00000290418.4_Missense_Mutation_p.R40C|CCDC142_ENST00000471713.1_Intron NM_032779.3 NP_116168.3 Q17RM4 CC142_HUMAN coiled-coil domain containing 142 40 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 16 ACCTCCCAGCGAAGACCGCCC 0.682000 8 62 0 0 0.004482 0 0 DNAH10 196385 broad.mit.edu 37 12 124362399 124362399 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:124362399C>T ENST00000409039.3 + 47 7987 c.7962C>T c.(7960-7962)ttC>ttT p.F2654F NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2654 AAA 3 (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) ATTACATCTTCAACCTTCGAG 0.443000 18 259 0 0 0.043863 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878410 39878410 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:39878410G>C ENST00000530275.1 + 1 2260 c.2065G>C c.(2065-2067)Gag>Cag p.E689Q MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 689 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ACCAGTTTTAGAGGAATGGAT 0.493000 3 24 0 0 0.009096 0 0 NTSR1 4923 broad.mit.edu 37 20 61391508 61391508 + Silent SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr20:61391508C>G ENST00000370501.3 + 4 1517 c.1146C>G c.(1144-1146)ctC>ctG p.L382L NTSR1_ENST00000482259.1_3'UTR NM_002531.2 NP_002522.2 P30989 NTR1_HUMAN neurotensin receptor 1 (high affinity) 382 endoplasmic reticulum|Golgi apparatus|integral to plasma membrane neurotensin receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3) 27 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;3.63e-06) TGGCCTGCCTCTGCCCGGTGT 0.627000 3 57 0 0 0.038147 0 0 KCNK2 3776 broad.mit.edu 37 1 215256745 215256745 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:215256745C>T ENST00000444842.2 + 1 167 c.17C>T c.(16-18)tCg>tTg p.S6L KCNK2_ENST00000391894.2_Intron|KCNK2_ENST00000391895.2_Intron NM_001017425.2|NM_014217.3 NP_001017425.2|NP_055032.1 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 6 outward rectifier potassium channel activity p.S6W(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CCCAGCGCCTCGCGGGAGAGA 0.547000 9 79 0 0 0.008291 0 0 ZNF358 140467 broad.mit.edu 37 19 7584139 7584139 + Nonsense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:7584139C>T ENST00000599312.1 + 2 109 c.109C>T c.(109-111)Cag>Tag p.Q37* ZNF358_ENST00000597229.1_Missense_Mutation_p.S4L|ZNF358_ENST00000394341.2_Missense_Mutation_p.S4L ATGCGGCGCTCAGTCCTGGTC 0.597000 6 81 0 0 0.021553 0 0 ATAD1 84896 broad.mit.edu 37 10 89516664 89516664 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr10:89516664C>G ENST00000308448.7 - 9 1225 c.847G>C c.(847-849)Gac>Cac p.D283H ATAD1_ENST00000328142.3_Missense_Mutation_p.D283H|ATAD1_ENST00000400215.3_Missense_Mutation_p.D195H NM_032810.2 NP_116199.2 Q8NBU5 ATAD1_HUMAN ATPase family, AAA domain containing 1 283 peroxisome ATP binding|nucleoside-triphosphatase activity kidney(1)|large_intestine(4)|lung(4)|ovary(1) 10 all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224) UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235) TCTAGCAGGTCTACATGCCTA 0.353000 6 99 0 0 0.021553 0 0 DEPDC7 91614 broad.mit.edu 37 11 33054239 33054239 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:33054239G>C ENST00000311388.3 + 7 1512 c.1136G>C c.(1135-1137)aGg>aCg p.R379T DEPDC7_ENST00000241051.3_Missense_Mutation_p.R388T NM_139160.2 NP_631899.2 Q96QD5 DEPD7_HUMAN DEP domain containing 7 388 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2) 17 GTTGTGAAAAGGATATTCTCA 0.259000 16 106 0 0 0.024245 0 0 METTL8 79828 broad.mit.edu 37 2 172195788 172195788 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:172195788G>A ENST00000375258.4 - 4 727 c.512C>T c.(511-513)tCt>tTt p.S171F NM_024770.3 NP_079046.2 B3KW44 B3KW44_HUMAN methyltransferase like 8 methyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1) 11 GGAAAAATCAGATTCTGTTTT 0.383000 14 269 0 0 0.020292 0 0 TNK2 10188 broad.mit.edu 37 3 195593873 195593873 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:195593873G>A ENST00000333602.6 - 14 3614 c.2997C>T c.(2995-2997)ttC>ttT p.F999F TNK2_ENST00000428187.1_Silent_p.F1001F|TNK2_ENST00000381916.2_Silent_p.F1047F|TNK2_ENST00000392400.1_Silent_p.F999F NM_005781.4 NP_005772.3 Q07912 ACK1_HUMAN tyrosine kinase, non-receptor, 2 999 Missing (in Ref. 4; AAH08884). positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction adherens junction|cytoplasmic vesicle membrane|endosome|nucleus ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1) 29 all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;0.000757) Adenosine triphosphate(DB00171) GACCCAGCCCGAAGAGCTGCT 0.697000 3 21 0 0 0.009096 0 0 FRAS1 80144 broad.mit.edu 37 4 79294005 79294005 + Silent SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:79294005C>G ENST00000264895.6 + 24 3443 c.3003C>G c.(3001-3003)ctC>ctG p.L1001L FRAS1_ENST00000325942.6_Silent_p.L1001L NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1001 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 ACTCGGGCCTCTGCAAGAGTA 0.537000 8 86 0 0 0.006214 0 0 CORO2B 10391 broad.mit.edu 37 15 69018260 69018260 + Missense_Mutation SNP C C T rs146678597 TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr15:69018260C>T ENST00000543950.1 + 12 1729 c.1375C>T c.(1375-1377)Cgg>Tgg p.R459W CORO2B_ENST00000261861.5_Missense_Mutation_p.R459W|CORO2B_ENST00000540068.1_Missense_Mutation_p.R459W|CORO2B_ENST00000566799.1_Missense_Mutation_p.R464W NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 464 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CATCCGCATTCGGCAGCTCCA 0.557000 4 52 0 0 0.009096 0 0 OR4K1 79544 broad.mit.edu 37 14 20404396 20404396 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:20404396G>A ENST00000285600.4 + 1 630 c.571G>A c.(571-573)Gat>Aat p.D191N NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) GGCTTGCATGGATACATATGA 0.443000 5 327 0 0 0.014758 0 0 LRP1B 53353 broad.mit.edu 37 2 141641540 141641540 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:141641540C>T ENST00000389484.3 - 25 4986 c.4015G>A c.(4015-4017)Ggc>Agc p.G1339S NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1339 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) ACTGTCAGGCCTTCTGGAGTA 0.468000 TSP Lung(27;0.18) 16 131 0 0 0.024245 0 0 C12orf66 144577 broad.mit.edu 37 12 64587993 64587993 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:64587993C>T ENST00000311915.8 - 3 994 c.967G>A c.(967-969)Gag>Aag p.E323K C12orf66_ENST00000544871.1_Missense_Mutation_p.E270K|C12orf66_ENST00000398055.3_Missense_Mutation_p.E323K Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 323 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 TGAAAACTCTCAGAACCTCTG 0.473000 12 174 0 0 0.016723 0 0 TAS2R9 50835 broad.mit.edu 37 12 10962188 10962188 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:10962188C>G ENST00000240691.2 - 1 579 c.487G>C c.(487-489)Gaa>Caa p.E163Q NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 163 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GTAATGTTTTCTTCATGACTG 0.378000 12 107 0 0 0.016723 0 0 NAT10 55226 broad.mit.edu 37 11 34139781 34139781 + Silent SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:34139781C>G ENST00000257829.3 + 7 818 c.612C>G c.(610-612)ctC>ctG p.L204L NAT10_ENST00000527971.1_Silent_p.L204L|NAT10_ENST00000531159.2_Silent_p.L132L NM_024662.2 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 (GCN5-related) 204 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) ATGACCAGCTCAACATCCTGC 0.557000 10 60 0 0 0.016723 0 0 NUDT14 256281 broad.mit.edu 37 14 105639498 105639498 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:105639498C>T ENST00000392568.2 - 5 622 c.529G>A c.(529-531)Gag>Aag p.E177K RP11-44N21.4_ENST00000548203.1_RNA|NUDT14_ENST00000550912.1_5'UTR NM_177533.4 NP_803877.2 O95848 NUD14_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 14 177 Nudix hydrolase. cytoplasm metal ion binding|protein binding|UDP-sugar diphosphatase activity p.E177K(1) cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 14 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) TCAATGAGCTCACCCTCCTCC 0.622000 HNSCC(42;0.11) 4 34 0 0 0.009096 0 0 CDC14B 8555 broad.mit.edu 37 9 99301371 99301371 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr9:99301371C>T ENST00000375241.1 - 7 1067 c.616G>A c.(616-618)Gaa>Aaa p.E206K CDC14B_ENST00000375240.3_Missense_Mutation_p.E206K|CDC14B_ENST00000375236.1_Missense_Mutation_p.E206K|CDC14B_ENST00000375242.3_Missense_Mutation_p.E169K|CDC14B_ENST00000463569.1_Missense_Mutation_p.E206K|CDC14B_ENST00000265659.2_Missense_Mutation_p.E206K NM_003671.3|NM_033331.2 NP_003662.1|NP_201588.1 O60729 CC14B_HUMAN cell division cycle 14B 206 Linker. activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1) 15 Acute lymphoblastic leukemia(62;0.0559) TCATAGTGTTCATATTCATCA 0.343000 7 91 0 0 0.029380 0 0 ABCC10 89845 broad.mit.edu 37 6 43400436 43400436 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:43400436G>A ENST00000244533.3 + 1 948 c.589G>A c.(589-591)Gag>Aag p.E197K ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Missense_Mutation_p.E240K NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 240 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGCCTGTGGAGAGCTCCGGCA 0.637000 5 56 0 0 0.021553 0 0 CCDC134 79879 broad.mit.edu 37 22 42209814 42209814 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr22:42209814C>T ENST00000255784.5 + 6 656 c.552C>T c.(550-552)atC>atT p.I184I CCDC134_ENST00000402061.3_Intron NM_024821.2 NP_079097.1 Q9H6E4 CC134_HUMAN coiled-coil domain containing 134 184 extracellular region large_intestine(1)|lung(2)|ovary(2)|skin(1) 6 CATTTAAAATCGACCGCACAG 0.567000 4 86 0 0 0.014758 0 0 KARS 3735 broad.mit.edu 37 16 75669620 75669620 + Silent SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr16:75669620G>T ENST00000319410.5 - 7 958 c.837C>A c.(835-837)atC>atA p.I279I KARS_ENST00000302445.3_Silent_p.I251I|KARS_ENST00000568378.1_Intron NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 251 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) TTATATATGTGATGATCTTAG 0.443000 9 81 7.48243e-07 8.29019e-07 0.006214 1 0 DOPEY1 23033 broad.mit.edu 37 6 83845382 83845382 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:83845382C>T ENST00000349129.2 + 20 3175 c.2915C>T c.(2914-2916)tCt>tTt p.S972F DOPEY1_ENST00000369739.3_Missense_Mutation_p.S963F|DOPEY1_ENST00000237163.5_Missense_Mutation_p.S953F NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 972 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CTCGATGGTTCTACTAGCTCT 0.393000 14 182 0 0 0.020292 0 0 FOXK1 221937 broad.mit.edu 37 7 4794948 4794948 + Silent SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:4794948G>C ENST00000328914.4 + 4 984 c.984G>C c.(982-984)ctG>ctC p.L328L FOXK1_ENST00000446823.1_Silent_p.L165L NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 328 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) AGCTGACCCTGAGCGGGATCT 0.642000 6 54 0 0 0.029380 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86556202 86556202 + Missense_Mutation SNP T T G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:86556202T>G ENST00000450689.2 - 9 1305 c.1120A>C c.(1120-1122)Aaa>Caa p.K374Q KIAA1324L_ENST00000416314.1_Missense_Mutation_p.K207Q|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.K134Q|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.K374Q NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 374 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) CGGCAGATTTTGGGCTCTATC 0.378000 5 190 0 0 0.014758 0 0 LAMB3 3914 broad.mit.edu 37 1 209789846 209789846 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:209789846C>T ENST00000391911.1 - 21 3741 c.3352G>A c.(3352-3354)Gag>Aag p.E1118K LAMB3_ENST00000356082.4_Missense_Mutation_p.E1118K|LAMB3_ENST00000367030.3_Missense_Mutation_p.E1118K NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1118 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TCCATGGTCTCCCCAAACAGC 0.552000 9 183 0 0 0.013537 0 0 VPS54 51542 broad.mit.edu 37 2 64208891 64208891 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:64208891G>A ENST00000409558.4 - 3 385 c.231C>T c.(229-231)ttC>ttT p.F77F VPS54_ENST00000272322.4_Silent_p.F89F NM_001005739.1|NM_016516.2 NP_001005739.1|NP_057600.2 Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) protein transport|retrograde transport, endosome to Golgi endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 TTTTTGTGAAGAAGTCAGATT 0.388000 22 269 0 0 0.012319 0 0 OR52I2 143502 broad.mit.edu 37 11 4608745 4608745 + Missense_Mutation SNP C C T rs137965376 byFrequency TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:4608745C>T ENST00000312614.4 + 1 725 c.703C>T c.(703-705)Ctt>Ttt p.L235F NM_001005170.2 NP_001005170.1 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, member 2 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGTTCCTCTCTTATGGTGGG 0.488000 19 257 0 0 0.010504 0 0 ZNF630 57232 broad.mit.edu 37 X 47918817 47918817 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:47918817C>G ENST00000276054.4 - 5 1576 c.642G>C c.(640-642)caG>caC p.Q214H ZNF630_ENST00000409324.3_Missense_Mutation_p.Q338H|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000442455.3_Missense_Mutation_p.Q324H Q2M218 ZN630_HUMAN zinc finger protein 630 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 TATGGACTCTCTGATGAACAG 0.428000 8 123 0 0 0.038147 0 0 TAF1C 9013 broad.mit.edu 37 16 84214979 84214979 + Silent SNP C C A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr16:84214979C>A ENST00000567759.1 - 10 1379 c.1197G>T c.(1195-1197)gtG>gtT p.V399V TAF1C_ENST00000378541.4_Silent_p.V399V|TAF1C_ENST00000570117.1_Silent_p.V67V|TAF1C_ENST00000541676.1_Silent_p.V306V|TAF1C_ENST00000566732.1_Silent_p.V373V|TAF1C_ENST00000341690.6_Silent_p.V306V NM_005679.3 NP_005670 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 399 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 CCACGGTCAGCACCCGAGGGT 0.667000 6 12 0.00116845 0.00126582 0.021553 1 0 CCL23 6368 broad.mit.edu 37 17 34344932 34344932 + Translation_Start_Site SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:34344932C>T ENST00000293280.2 - 1 73 c.3G>A c.(1-3)atG>atA p.M1I CCL23_ENST00000591423.1_Start_Codon_SNP_p.M1I NM_005064.3 NP_005055.2 P55773 CCL23_HUMAN chemokine (C-C motif) ligand 23 1 cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|negative regulation of cell proliferation extracellular space chemokine activity|heparin binding large_intestine(2)|liver(1)|lung(2)|prostate(1) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) Treprostinil(DB00374) CGGAGACCTTCATCCTCCTGG 0.577000 4 28 0 0 0.014758 0 0 DNAJC3 5611 broad.mit.edu 37 13 96409943 96409943 + Nonsense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr13:96409943C>T ENST00000602402.1 + 5 556 c.439C>T c.(439-441)Caa>Taa p.Q147* DNAJC3_ENST00000376795.6_Intron NM_006260.4 NP_006251.1 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 147 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) AGCACAGTCTCAACTTATAAA 0.343000 9 90 0 0 0.004482 0 0 ZNF358 140467 broad.mit.edu 37 19 7584339 7584339 + Missense_Mutation SNP C C A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:7584339C>A ENST00000597229.1 + 2 381 c.211C>A c.(211-213)Ctg>Atg p.L71M CTD-2207O23.12_ENST00000599312.1_3'UTR|ZNF358_ENST00000394341.2_Missense_Mutation_p.L71M NM_018083.4 NP_060553.4 Q9NW07 ZN358_HUMAN zinc finger protein 358 71 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2) 8 CTCGGAGGATCTGGACCCCGA 0.607000 7 75 0.0381472 0.0404278 0.038147 1 0 NOS3 4846 broad.mit.edu 37 7 150698385 150698385 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr7:150698385G>C ENST00000297494.3 + 11 1657 c.1300G>C c.(1300-1302)Gag>Cag p.E434Q NOS3_ENST00000461406.1_Missense_Mutation_p.E228Q|NOS3_ENST00000467517.1_Missense_Mutation_p.E434Q|NOS3_ENST00000484524.1_Missense_Mutation_p.E434Q NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 434 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCTGGAGAATGAGCAGAAGGC 0.612000 5 83 0 0 0.038147 0 0 KCTD11 147040 broad.mit.edu 37 17 7256592 7256592 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:7256592C>G ENST00000333751.3 + 1 1385 c.331C>G c.(331-333)Cac>Gac p.H111D RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 111 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) GGGACCCCATCACTATGAGCT 0.632000 6 59 0 0 0.029380 0 0 EXTL3 2137 broad.mit.edu 37 8 28575593 28575593 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr8:28575593G>A ENST00000220562.4 + 3 2919 c.2017G>A c.(2017-2019)Gag>Aag p.E673K EXTL3_ENST00000523149.1_Missense_Mutation_p.E289K|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 673 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) TTATGAGCGGGAGGAAGTGCT 0.542000 7 97 0 0 0.029380 0 0 MAP3K19 80122 broad.mit.edu 37 2 135739074 135739074 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:135739074G>A ENST00000392915.1 - 10 3559 c.3440C>T c.(3439-3441)tCa>tTa p.S1147L MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375845.3_Silent_p.L1079L|MAP3K19_ENST00000375844.3_Silent_p.L261L|MAP3K19_ENST00000392917.3_Silent_p.L211L|MAP3K19_ENST00000358371.4_Silent_p.L966L|MAP3K19_ENST00000315513.3_5'UTR mitogen-activated protein kinase kinase kinase 19 CTTGACTAGTGAGACCACAGT 0.368000 7 199 0 0 0.029380 0 0 LOC653786 653786 broad.mit.edu 37 16 22588118 22588118 + RNA SNP G G A rs56041217 by1000genomes TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr16:22588118G>A ENST00000550753.1 + 0 2593 NR_003676.2 ATCTAGGGCAGGGAAACCCTG 0.428000 4 13 0 0 0.014758 0 0 IQGAP3 128239 broad.mit.edu 37 1 156507074 156507074 + Silent SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr1:156507074G>A ENST00000361170.2 - 27 3331 c.3321C>T c.(3319-3321)agC>agT p.S1107S IQGAP3_ENST00000498755.1_5'UTR NM_178229.4 NP_839943.2 Q86VI3 IQGA3_HUMAN IQ motif containing GTPase activating protein 3 1107 Ras-GAP. small GTPase mediated signal transduction intracellular calmodulin binding|Ras GTPase activator activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3) 75 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCTCGGGGTGGCTCAAGGCCT 0.562000 3 36 0 0 0.004672 0 0 MT-ND6 4541 broad.mit.edu 37 MT 14259 14259 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrM:14259G>A ENST00000361681.2 - 1 414 c.415C>T c.(415-417)Cct>Tct p.P139S mitochondrially encoded NADH dehydrogenase 6 breast(1)|endometrium(10)|kidney(17)|urinary_tract(1) 29 CGCACCAATAGGATCCTCCCG 0.423000 3 10 0 0 0.014758 0 0 GLYR1 84656 broad.mit.edu 37 16 4882060 4882060 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr16:4882060C>T ENST00000321919.9 - 5 533 c.457G>A c.(457-459)Gag>Aag p.E153K GLYR1_ENST00000436648.5_Intron|GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000381983.3_Missense_Mutation_p.E153K|GLYR1_ENST00000591451.1_Missense_Mutation_p.E153K NM_032569.3 NP_115958 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 153 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 GAGCCTCTCTCTGAAGAGCCT 0.527000 11 191 0 0 0.010729 0 0 NPAT 4863 broad.mit.edu 37 11 108043955 108043955 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:108043955C>T ENST00000278612.8 - 13 1861 c.1756G>A c.(1756-1758)Gaa>Aaa p.E586K NPAT_ENST00000610253.1_5'UTR NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 586 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) ATAACTGGTTCTAACACATTA 0.299000 14 231 0 0 0.020292 0 0 BAGE2 85319 broad.mit.edu 37 21 11058353 11058353 + RNA SNP T T C rs79433933 by1000genomes TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr21:11058353T>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GAAATCTCTTTATAAAACCTT 0.343000 8 120 0 0 0.038147 0 0 HELZ 9931 broad.mit.edu 37 17 65162678 65162678 + Missense_Mutation SNP T T A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:65162678T>A ENST00000358691.5 - 15 1977 c.1811A>T c.(1810-1812)cAc>cTc p.H604L HELZ_ENST00000580168.1_Missense_Mutation_p.H604L NM_014877.3 NP_055692 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TAGTGCATAGTGCATTTCACA 0.393000 7 154 0 0 0.038147 0 0 COPE 11316 broad.mit.edu 37 19 19021838 19021838 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:19021838C>T ENST00000600932.1 - 3 263 c.232G>A c.(232-234)Gcc>Acc p.A78T COPE_ENST00000351079.4_Missense_Mutation_p.A78T|AC002985.3_ENST00000596918.1_3'UTR|COPE_ENST00000349893.4_Missense_Mutation_p.A78T|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000262812.4_Missense_Mutation_p.A78T O14579 COPE_HUMAN coatomer protein complex, subunit epsilon 78 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol binding|structural molecule activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 11 AGCTCAGGGGCCGAGGAGGGC 0.632000 9 156 0 0 0.004482 0 0 HGS 9146 broad.mit.edu 37 17 79660899 79660899 + Splice_Site SNP G G T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:79660899G>T ENST00000329138.4 + 11 975 c.e11-1 NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) TTCTGCCTCAGAGACAGAAGT 0.677000 4 38 0.00909568 0.00974537 0.009096 1 0 UGP2 7360 broad.mit.edu 37 2 64114722 64114722 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:64114722G>A ENST00000337130.5 + 8 1734 c.1258G>A c.(1258-1260)Gaa>Aaa p.E420K UGP2_ENST00000467648.2_Missense_Mutation_p.E409K|UGP2_ENST00000445915.2_Missense_Mutation_p.E429K|UGP2_ENST00000394417.2_Missense_Mutation_p.E409K NM_006759.3 NP_006750.3 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 420 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1) 18 GACAATGAGTGAAAAGCGGGA 0.403000 12 195 0 0 0.010729 0 0 USP51 158880 broad.mit.edu 37 X 55514287 55514287 + Silent SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:55514287C>G ENST00000500968.3 - 2 1168 c.1086G>C c.(1084-1086)ctG>ctC p.L362L USP51_ENST00000586165.1_5'UTR NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 362 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 TTAGCCCTCTCAGGCCTACAG 0.403000 15 223 0 0 0.020292 0 0 KDR 3791 broad.mit.edu 37 4 55961744 55961744 + Splice_Site SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr4:55961744C>T ENST00000263923.4 - 20 3112 c.2817G>A c.(2815-2817)aaG>aaA p.K939K NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 939 Protein kinase. 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) GATGACATACCTTGTAGGGGA 0.413000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 8 99 0 0 0.004482 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65198166 65198166 + Missense_Mutation SNP C C T rs145887123 TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:65198166C>T ENST00000247226.7 + 6 1077 c.769C>T c.(769-771)Cgc>Tgc p.R257C PLEKHG3_ENST00000394691.1_Missense_Mutation_p.R313C NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 313 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) CCGCGTGCATCGCGTGCGCAA 0.552000 5 67 0 0 0.014758 0 0 PGM2L1 283209 broad.mit.edu 37 11 74056622 74056622 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:74056622C>T ENST00000298198.4 - 9 1421 c.1110G>A c.(1108-1110)aaG>aaA p.K370K NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 370 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) ATTTATTTTTCTTCCAGCAAT 0.373000 5 108 0 0 0.021553 0 0 TCP11 6954 broad.mit.edu 37 6 35088708 35088708 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr6:35088708C>T ENST00000311875.5 - 6 1149 c.732G>A c.(730-732)caG>caA p.Q244Q TCP11_ENST00000412155.2_Silent_p.Q193Q|TCP11_ENST00000512012.1_Silent_p.Q231Q|TCP11_ENST00000418521.2_Silent_p.Q168Q|TCP11_ENST00000244645.3_Silent_p.Q169Q|TCP11_ENST00000373979.2_Silent_p.Q169Q|TCP11_ENST00000373974.4_Silent_p.Q198Q|TCP11_ENST00000444780.2_Silent_p.Q239Q Q8WWU5 TCP11_HUMAN t-complex 11, testis-specific 231 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4) 27 TGAGGAGTTCCTGGAATTTAG 0.443000 45 534 0 0 0.014410 0 0 STAG2 10735 broad.mit.edu 37 X 123179197 123179197 + Nonsense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:123179197C>T ENST00000371160.1 + 8 936 c.646C>T c.(646-648)Cga>Tga p.R216* STAG2_ENST00000218089.9_Nonsense_Mutation_p.R216*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R147*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R216* NM_001282418.1 NP_001269347.1 Q8N3U4 STAG2_HUMAN stromal antigen 2 216 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 CAGAGCATTTCGACATACAAG 0.343000 20 335 0 0 0.010504 0 0 ZNF491 126069 broad.mit.edu 37 19 11916920 11916920 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr19:11916920C>T ENST00000323169.5 + 3 483 c.152C>T c.(151-153)tCc>tTc p.S51F ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 51 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 GGATATTCATCCTTTAATAGG 0.393000 6 111 0 0 0.038147 0 0 KARS 3735 broad.mit.edu 37 16 75669626 75669626 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr16:75669626C>G ENST00000319410.5 - 7 952 c.831G>C c.(829-831)aaG>aaC p.K277N KARS_ENST00000302445.3_Missense_Mutation_p.K249N|KARS_ENST00000568378.1_Intron NM_001130089.1 NP_001123561.1 Q15046 SYK_HUMAN lysyl-tRNA synthetase 249 interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 18 L-Lysine(DB00123) ATGTGATGATCTTAGAGCGGA 0.433000 9 88 0 0 0.006214 0 0 C12orf66 144577 broad.mit.edu 37 12 64588249 64588249 + Silent SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:64588249C>T ENST00000311915.8 - 3 738 c.711G>A c.(709-711)aaG>aaA p.K237K C12orf66_ENST00000544871.1_Silent_p.K184K|C12orf66_ENST00000398055.3_Silent_p.K237K Q96MD2 CL066_HUMAN chromosome 12 open reading frame 66 237 central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1) 5 ACAGATGTTTCTTGGTCTCCC 0.493000 8 66 0 0 0.004482 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716635 39716635 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr14:39716635C>T ENST00000553728.1 + 4 1070 c.857C>T c.(856-858)tCa>tTa p.S286L MIA2_ENST00000556784.1_Missense_Mutation_p.S285L|MIA2_ENST00000280082.3_Missense_Mutation_p.S286L GAAATTGATTCAGTGCCAAAG 0.398000 7 91 0 0 0.029380 0 0 XYLB 9942 broad.mit.edu 37 3 38404477 38404477 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr3:38404477C>T ENST00000207870.3 + 4 350 c.260C>T c.(259-261)tCt>tTt p.S87F XYLB_ENST00000542835.1_Intron NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 87 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) TTCGACTTCTCTCAAGTCCTA 0.522000 4 119 0 0 0.014758 0 0 ACVRL1 94 broad.mit.edu 37 12 52309201 52309201 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:52309201G>A ENST00000550683.1 + 6 1108 c.1007G>A c.(1006-1008)gGc>gAc p.G336D ACVRL1_ENST00000419526.2_Missense_Mutation_p.G148D|ACVRL1_ENST00000388922.4_Missense_Mutation_p.G322D NM_001077401.1 NP_001070869.1 P37023 ACVL1_HUMAN activin A receptor type II-like 1 322 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) GGTACACAGGGCAAACCAGCC 0.642000 3 25 0 0 0.014758 0 0 MAP6 4135 broad.mit.edu 37 11 75298367 75298367 + Missense_Mutation SNP G G C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr11:75298367G>C ENST00000304771.3 - 4 2929 c.2179C>G c.(2179-2181)Caa>Gaa p.Q727E CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.Q398E NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 727 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) GTGGGGCCTTGATCCTTAACT 0.493000 25 221 0 0 0.018920 0 0 LRRC46 90506 broad.mit.edu 37 17 45912735 45912735 + Missense_Mutation SNP T T C TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr17:45912735T>C ENST00000269025.4 + 4 605 c.242T>C c.(241-243)aTt>aCt p.I81T NM_033413.3 NP_219481.1 Q96FV0 LRC46_HUMAN leucine rich repeat containing 46 81 endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 9 ATCCAGCAAATTGAGAACCTG 0.547000 21 195 0 0 0.016522 0 0 FASTKD1 79675 broad.mit.edu 37 2 170416964 170416964 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr2:170416964G>A ENST00000453153.2 - 5 1250 c.904C>T c.(904-906)Cat>Tat p.H302Y FASTKD1_ENST00000453929.2_Missense_Mutation_p.H302Y NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 302 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 CTAGCAGGATGATTACACAGA 0.299000 18 239 0 0 0.008871 0 0 F8 2157 broad.mit.edu 37 X 154197729 154197729 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:154197729G>A ENST00000360256.4 - 7 1086 c.886C>T c.(886-888)Ctt>Ttt p.L296F NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 296 F5/8 type A 1.|Plastocyanin-like 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TTCCTCACAAGAAATGTGTGA 0.463000 12 195 0 0 0.028581 0 0 LOC102724710 102724710 broad.mit.edu 37 8 93591561 93591562 + RNA INS - - TTTC rs34835405 TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr8:93591561_93591562insTTTC ENST00000523284.1 - 0 395 ctttctttctttttctttcttt 0.312 4 2 --- --- --- --- RP11-25I15.2 0 broad.mit.edu 37 12 43072603 43072603 + RNA DEL T T - TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chr12:43072603delT ENST00000548764.1 + 0 465 AGAACTCTGCttttttttttt 0.413 5 9 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44938507 44938507 + Frame_Shift_Del DEL A A - TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx fbdcd7f9-1901-4e90-8e3c-71b05dc96da1 303b1fd2-d7a6-4166-a8a9-6f4677850cdd g.chrX:44938507delA ENST00000377967.4 + 20 3096 c.3055delA c.(3055-3057)aaafs p.K1019fs KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K974fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K940fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1026fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1019 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TGGAACAAAGAAAATCTGGCA 0.398 """D, N, F, S""" """renal, oesophageal SCC, MM""" 7 106 --- --- --- ---