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 PSAP 5660 broad.mit.edu 37 10 73587857 73587857 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:73587857C>G ENST00000394936.3 - 6 781 c.634G>C c.(634-636)Gta>Cta p.V212L PSAP_ENST00000394934.1_Missense_Mutation_p.V212L P07602 SAP_HUMAN prosaposin 212 Saposin B-type 2. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 TTGGTCCGTACAGCAGTCTGG 0.532000 31 57 0 0 0.002836 0 0 ZNF14 7561 broad.mit.edu 37 19 19824913 19824913 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:19824913C>A ENST00000344099.3 - 3 316 c.178G>T c.(178-180)Ggg>Tgg p.G60W NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 60 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) CGATTTTTCCCCTGGTTTCTG 0.363000 27 23 3.11337e-16 4.49044e-16 0.002836 1 0 SMG8 55181 broad.mit.edu 37 17 57288786 57288786 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:57288786G>A ENST00000543872.2 + 2 1638 c.1374G>A c.(1372-1374)gtG>gtA p.V458V SMG8_ENST00000300917.5_Silent_p.V458V|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Silent_p.V458V Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 458 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TGTATGAGGTGGCTATTGATG 0.433000 40 53 0 0 0.008740 0 0 PPP6R2 9701 broad.mit.edu 37 22 50832508 50832508 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr22:50832508G>A ENST00000359139.3 + 3 565 c.171G>A c.(169-171)ctG>ctA p.L57L PPP6R2_ENST00000395741.3_Silent_p.L57L|PPP6R2_ENST00000216061.5_Silent_p.L57L|PPP6R2_ENST00000395744.3_Silent_p.L57L NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 57 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TGGAGGAGCTGGTGAGCCTCA 0.557000 22 111 0 0 0.002299 0 0 ZNF816 125893 broad.mit.edu 37 19 53459279 53459279 + Splice_Site SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:53459279C>A ENST00000357666.4 - 3 364 c.e3+1 ZNF321P_ENST00000391777.3_Splice_Site|ZNF816_ENST00000535506.1_Splice_Site|ZNF816_ENST00000270457.4_Splice_Site|ZNF816_ENST00000438970.2_Splice_Site|ZNF816_ENST00000391786.2_Splice_Site|ZNF816_ENST00000444460.2_Splice_Site|ZNF816_ENST00000434371.2_Splice_Site NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 ATATCACTTACCTGAGGAAGA 0.433000 36 71 6.90743e-12 9.14218e-12 0.003755 1 0 SERPINA3 12 broad.mit.edu 37 14 95090116 95090116 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:95090116T>C ENST00000553947.1 + 8 2200 c.1312T>C c.(1312-1314)Ttc>Ctc p.F438L SERPINA3_ENST00000393080.4_Missense_Mutation_p.F413L|SERPINA3_ENST00000467132.1_Missense_Mutation_p.F413L|SERPINA3_ENST00000482740.1_Missense_Mutation_p.F195L|SERPINA3_ENST00000393078.3_Missense_Mutation_p.F413L P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 413 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GAACATCTTCTTCATGAGCAA 0.498000 4 109 0 0 0.000602 0 0 MUC17 140453 broad.mit.edu 37 7 100676675 100676675 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:100676675G>T ENST00000306151.4 + 3 2042 c.1978G>T c.(1978-1980)Gtg>Ttg p.V660L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 660 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACACTCCTGTGACCACTTC 0.468000 106 492 9.06123e-46 1.58045e-45 0.003610 1 0 SLC4A7 9497 broad.mit.edu 37 3 27442272 27442272 + Nonsense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:27442272T>A ENST00000295736.5 - 16 2453 c.2383A>T c.(2383-2385)Aga>Tga p.R795* SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.R671*|SLC4A7_ENST00000455077.1_Nonsense_Mutation_p.R676*|SLC4A7_ENST00000454389.1_Nonsense_Mutation_p.R804*|SLC4A7_ENST00000446700.1_Nonsense_Mutation_p.R787*|SLC4A7_ENST00000435667.2_Nonsense_Mutation_p.R680*|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000445684.1_Nonsense_Mutation_p.R791*|SLC4A7_ENST00000388777.4_Nonsense_Mutation_p.R345*|SLC4A7_ENST00000437179.1_Nonsense_Mutation_p.R676*|SLC4A7_ENST00000440156.1_Nonsense_Mutation_p.R791* NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 795 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GTAAGATTTCTCCAGGAAATA 0.328000 52 49 0 0 0.003610 0 0 OR2D3 120775 broad.mit.edu 37 11 6942999 6942999 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:6942999C>T ENST00000317834.3 + 1 795 c.767C>T c.(766-768)aCc>aTc p.T256I NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCTTTTTCCACCTGTGGCTCC 0.453000 5 43 0 0 0.000602 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684273 75684273 + Nonsense_Mutation SNP G G T rs148196192 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:75684273G>T ENST00000370855.5 - 17 1544 c.1431C>A c.(1429-1431)tgC>tgA p.C477* SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.C347*|SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.C477* NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 477 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CAGCAAGGGCGCACTGACCTA 0.438000 19 123 1.01871e-10 1.3173e-10 0.008871 1 0 PAX6 5080 broad.mit.edu 37 11 31823152 31823152 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:31823152C>A ENST00000419022.1 - 7 824 c.356G>T c.(355-357)aGa>aTa p.R119I PAX6_ENST00000379115.4_Missense_Mutation_p.R119I|PAX6_ENST00000379132.3_Missense_Mutation_p.R105I|PAX6_ENST00000379107.2_Missense_Mutation_p.R119I|PAX6_ENST00000379129.2_Missense_Mutation_p.R119I|PAX6_ENST00000379111.2_Missense_Mutation_p.R105I|PAX6_ENST00000379123.5_Missense_Mutation_p.R105I|PAX6_ENST00000241001.8_Missense_Mutation_p.R105I NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 105 Paired. S -> R (in AN). blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) GGACAGTAATCTGTCTCGGAT 0.502000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 15 52 2.23348e-06 2.61736e-06 0.004007 1 0 LRRCC1 85444 broad.mit.edu 37 8 86035739 86035739 + Missense_Mutation SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr8:86035739A>C ENST00000414626.2 + 6 1851 c.962A>C c.(961-963)aAa>aCa p.K321T LRRCC1_ENST00000360375.3_Missense_Mutation_p.K341T Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 341 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 GGAAACAGAAAAGAATGCAAT 0.323000 20 144 0 0 0.008871 0 0 CDK8 1024 broad.mit.edu 37 13 26974666 26974666 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr13:26974666A>T ENST00000381527.3 + 10 1513 c.1010A>T c.(1009-1011)gAa>gTa p.E337V CDK8_ENST00000480323.1_3'UTR|CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TATTTCTTAGAAGACCCACTT 0.423000 47 33 0 0 0.003610 0 0 HYDIN 54768 broad.mit.edu 37 16 70972618 70972618 + Silent SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr16:70972618A>T ENST00000393567.2 - 44 7044 c.6894T>A c.(6892-6894)cgT>cgA p.R2298R NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2298 R -> G (in dbSNP:rs1774360). breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGTTTTGGAGACGCTCCTTCT 0.537000 13 17 0 0 0.003163 0 0 FOXP1 27086 broad.mit.edu 37 3 71027060 71027060 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:71027060C>A ENST00000318789.4 - 15 1792 c.1267G>T c.(1267-1269)Gtc>Ttc p.V423F FOXP1_ENST00000468577.1_Missense_Mutation_p.V423F|FOXP1_ENST00000475937.1_Missense_Mutation_p.V423F|FOXP1_ENST00000484350.1_Missense_Mutation_p.V347F|FOXP1_ENST00000491238.1_Missense_Mutation_p.V425F|FOXP1_ENST00000493089.1_Missense_Mutation_p.V423F|FOXP1_ENST00000498215.1_Missense_Mutation_p.V423F NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 423 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GTTGTGATGACAGAGGGGCCT 0.577000 T PAX5 ALL 23 74 2.21704e-12 2.98702e-12 0.002780 1 0 ERMARD 55780 broad.mit.edu 37 6 170169675 170169675 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:170169675C>G ENST00000588451.1 + 11 1204 c.691C>G c.(691-693)Cgc>Ggc p.R231G C6orf70_ENST00000366773.3_Missense_Mutation_p.R367G|C6orf70_ENST00000392095.4_Missense_Mutation_p.R241G|C6orf70_ENST00000366772.2_Missense_Mutation_p.R367G|C6orf70_ENST00000418781.3_Missense_Mutation_p.R367G Q5T6L9 CF070_HUMAN 367 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) GGAGGGTCCCCGCATAAGAGA 0.408000 12 6 0 0 0.001368 0 0 INMT-FAM188B 100526825 broad.mit.edu 37 7 30793497 30793497 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:30793497C>A ENST00000458257.1 + 2 316 c.302C>A c.(301-303)cCg>cAg p.P101Q INMT_ENST00000013222.5_Missense_Mutation_p.P102Q|INMT_ENST00000484180.1_3'UTR|INMT_ENST00000409539.1_Missense_Mutation_p.P101Q AAGAAGGAGCCGGGGGCCTAT 0.572000 56 93 1.39843e-22 2.15511e-22 0.003610 1 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929215 32929215 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:32929215C>G ENST00000361627.3 + 12 2963 c.2241C>G c.(2239-2241)aaC>aaG p.N747K ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.N558K|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.N558K NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 747 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TGGAAGGTAACTTACCGAAGT 0.383000 22 36 0 0 0.001882 0 0 IGSF8 93185 broad.mit.edu 37 1 160061724 160061724 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:160061724C>T ENST00000368086.1 - 6 1947 c.1731G>A c.(1729-1731)ctG>ctA p.L577L IGSF8_ENST00000314485.7_Silent_p.L577L Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 577 cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) ATAGGGTGTCCAGGGCTGGGG 0.562000 29 25 0 0 0.006320 0 0 TRAV8-4 28682 broad.mit.edu 37 14 22363102 22363102 + RNA SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:22363102G>T ENST00000390438.2 + 0 361 CTGGTTAAAGGCATCAACGGT 0.502000 42 126 1.8453e-21 2.80535e-21 0.002522 1 0 DMBT1 1755 broad.mit.edu 37 10 124338238 124338238 + Missense_Mutation SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:124338238T>G ENST00000368909.3 + 9 748 c.642T>G c.(640-642)agT>agG p.S214R DMBT1_ENST00000344338.3_Missense_Mutation_p.S214R|DMBT1_ENST00000330163.4_Missense_Mutation_p.S214R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.S214R|DMBT1_ENST00000368955.3_Missense_Mutation_p.S214R|DMBT1_ENST00000338354.3_Missense_Mutation_p.S214R NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 214 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTACAGAAAGTTGGCCTGTCA 0.448000 7 12 0 0 0.003080 0 0 ASXL3 80816 broad.mit.edu 37 18 31226268 31226268 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr18:31226268G>T ENST00000269197.5 + 4 306 c.306G>T c.(304-306)ttG>ttT p.L102F NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AATCTGAATTGGATGGTACAG 0.383000 26 189 2.12542e-12 2.88083e-12 0.006320 1 0 TYRP1 7306 broad.mit.edu 37 9 12695518 12695518 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:12695518G>T ENST00000388918.5 + 3 518 c.389G>T c.(388-390)aGg>aTg p.R130M TYRP1_ENST00000381137.2_5'UTR NM_000550.2 NP_000541.1 P17643 TYRP1_HUMAN tyrosinase-related protein 1 130 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) CCTAAAGTCAGGAGAAATCTT 0.433000 Oculocutaneous Albinism 29 18 8.88839e-20 1.29863e-19 0.002096 1 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + RNA SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr16:32890622T>G ENST00000330048.5 - 0 3176 NR_003083.2 CGTTGGTGTTTTTGTAGACCA 0.617000 3 23 0 0 0.004672 0 0 RTN1 6252 broad.mit.edu 37 14 60194383 60194383 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:60194383G>C ENST00000267484.5 - 3 1354 c.1019C>G c.(1018-1020)cCa>cGa p.P340R NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 340 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TGCAGCAGATGGTTCTGTCGT 0.527000 7 11 0 0 0.003080 0 0 AFF4 27125 broad.mit.edu 37 5 132232907 132232907 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:132232907C>A ENST00000265343.5 - 11 1794 c.1415G>T c.(1414-1416)tGg>tTg p.W472L AFF4_ENST00000378595.3_Missense_Mutation_p.W472L NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 472 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATCAAGTTGCCATTTGTTTGT 0.413000 29 105 3.80469e-20 5.59514e-20 0.009535 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178634557 178634557 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:178634557C>A ENST00000251582.7 - 4 949 c.848G>T c.(847-849)gGg>gTg p.G283V ADAMTS2_ENST00000274609.5_Missense_Mutation_p.G283V NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 283 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTGCTCCTTCCCGTGGAACTG 0.632000 45 61 1.21353e-23 1.89615e-23 0.003610 1 0 RABGGTA 5875 broad.mit.edu 37 14 24738879 24738879 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:24738879C>T ENST00000399409.3 - 5 932 c.449G>A c.(448-450)cGg>cAg p.R150Q RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000216840.6_Missense_Mutation_p.R150Q|RABGGTA_ENST00000559586.1_5'UTR NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 150 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) GGCCACAAACCGCCGATAGTC 0.582000 11 21 0 0 0.001368 0 0 PAPPA2 60676 broad.mit.edu 37 1 176664879 176664879 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:176664879C>A ENST00000367662.3 + 7 3794 c.2630C>A c.(2629-2631)tCa>tAa p.S877* NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 877 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCCAGGGCCTCAGGCAGCTTG 0.537000 89 52 6.09681e-45 1.05522e-44 0.003610 1 0 NAP1L2 4674 broad.mit.edu 37 X 72434052 72434052 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chrX:72434052C>A ENST00000373517.3 - 1 632 c.277G>T c.(277-279)Ggt>Tgt p.G93C NAP1L2_ENST00000536638.1_Intron NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 93 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) AAAACATAACCGATAAGTCCT 0.448000 42 19 2.54354e-34 4.23923e-34 0.009718 1 0 HEBP1 50865 broad.mit.edu 37 12 13140126 13140126 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:13140126C>T ENST00000536942.1 - 3 508 c.358G>A c.(358-360)Gtt>Att p.V120I HEBP1_ENST00000014930.4_Missense_Mutation_p.V120I Q9NRV9 HEBP1_HUMAN heme binding protein 1 120 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TCAATCTTAACGCTTTTGTCA 0.488000 20 142 0 0 0.010504 0 0 ZNF653 115950 broad.mit.edu 37 19 11594670 11594670 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:11594670C>G ENST00000293771.5 - 9 1811 c.1675G>C c.(1675-1677)Gag>Cag p.E559Q CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 CCACAGATCTCGCACCTGCCG 0.701000 3 7 0 0 0.001168 0 0 EHBP1 23301 broad.mit.edu 37 2 62974575 62974575 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:62974575G>A ENST00000263991.5 + 3 632 c.150G>A c.(148-150)agG>agA p.R50R EHBP1_ENST00000354487.3_Silent_p.R50R|EHBP1_ENST00000431489.1_Silent_p.R50R|EHBP1_ENST00000405289.1_Silent_p.R50R|EHBP1_ENST00000405015.3_Silent_p.R50R NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 50 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GAAGCCGAAGGAAGTCTTCTA 0.299000 18 83 0 0 0.010504 0 0 DHX30 22907 broad.mit.edu 37 3 47887703 47887703 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:47887703G>A ENST00000446256.2 + 12 1596 c.1024G>A c.(1024-1026)Gat>Aat p.D342N DHX30_ENST00000457607.1_Missense_Mutation_p.D409N|DHX30_ENST00000445061.1_Missense_Mutation_p.D381N|DHX30_ENST00000348968.4_Missense_Mutation_p.D353N NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 381 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GCTGCAGAGTGATGACATCTT 0.542000 28 126 0 0 0.004656 0 0 SDHA 6389 broad.mit.edu 37 5 256470 256470 + Missense_Mutation SNP G G T rs3211483 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:256470G>T ENST00000264932.6 + 15 2045 c.1930G>T c.(1930-1932)Gtg>Ttg p.V644L SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000504309.1_Missense_Mutation_p.V563L|SDHA_ENST00000510361.1_Missense_Mutation_p.V596L NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 644 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) ATATAGACCCGTGATCGACAA 0.428000 Familial Paragangliomas 7 101 0.00307968 0.0033967 0.003080 1 0 GP6 51206 broad.mit.edu 37 19 55543711 55543711 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:55543711C>A ENST00000310373.3 - 3 148 c.121G>T c.(121-123)Gag>Tag p.E41* CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000417454.1_Nonsense_Mutation_p.E41*|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_Nonsense_Mutation_p.E41* NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 41 Ig-like C2-type 1. enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) ACTGGCTTCTCCAGGGGCACC 0.682000 17 14 9.16793e-09 1.1272e-08 0.004990 1 0 SIRPG 55423 broad.mit.edu 37 20 1617082 1617082 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr20:1617082G>T ENST00000381580.1 - 3 580 c.401C>A c.(400-402)aCc>aAc p.T134N SIRPG_ENST00000216927.4_Missense_Mutation_p.T167N|SIRPG_ENST00000303415.3_Missense_Mutation_p.T167N|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000381583.2_Missense_Mutation_p.T167N|RP11-77C3.3_ENST00000456177.1_RNA Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 167 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GGACTCACAGGTGAAACTCAC 0.542000 41 81 2.66277e-13 3.6756e-13 0.006999 1 0 TAS2R9 50835 broad.mit.edu 37 12 10962433 10962433 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:10962433A>G ENST00000240691.2 - 1 334 c.242T>C c.(241-243)cTa>cCa p.L81P NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 81 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 AATGCTTACTAGCACGCTATT 0.398000 52 52 0 0 0.003610 0 0 ASNS 440 broad.mit.edu 37 7 97488526 97488526 + Splice_Site SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:97488526T>G ENST00000175506.4 - 6 1200 c.673_splice c.e6+1 p.P224_splice ASNS_ENST00000394309.3_Splice_Site_p.P224_splice|ASNS_ENST00000437628.1_Splice_Site_p.P141_splice|ASNS_ENST00000455086.1_Splice_Site_p.P141_splice|ASNS_ENST00000444334.1_Splice_Site_p.P203_splice|ASNS_ENST00000422745.1_Splice_Site_p.P203_splice|ASNS_ENST00000394308.3_Splice_Site_p.P224_splice NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 224 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTCTGCTACCTGGAAAGAGTT 0.433000 11 64 0 0 0.001855 0 0 MYOC 4653 broad.mit.edu 37 1 171621320 171621320 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:171621320G>T ENST00000037502.5 - 1 491 c.432C>A c.(430-432)aaC>aaA p.N144K NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 144 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTCGGAGGAGGTTGCTGTAGG 0.582000 33 139 3.80469e-20 5.59514e-20 0.009535 1 0 AKAP6 9472 broad.mit.edu 37 14 33291383 33291383 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:33291383G>C ENST00000280979.4 + 13 4534 c.4364G>C c.(4363-4365)gGa>gCa p.G1455A AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1455 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GACTGTTTGGGAGAAGAATTA 0.363000 24 38 0 0 0.002780 0 0 SPTA1 6708 broad.mit.edu 37 1 158653173 158653173 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:158653173G>A ENST00000368148.3 - 3 558 c.378C>T c.(376-378)caC>caT p.H126H SPTA1_ENST00000368147.3_Silent_p.H126H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 126 Missing (in Ref. 3; AAA60575). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCGTTTCTTCGTGGGCAGAAT 0.383000 80 50 0 0 0.003610 0 0 FES 2242 broad.mit.edu 37 15 91437239 91437239 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:91437239C>T ENST00000328850.3 + 18 2419 c.2277C>T c.(2275-2277)tcC>tcT p.S759S FES_ENST00000450438.2_Silent_p.S631S|FES_ENST00000444422.2_Silent_p.S689S|FES_ENST00000394300.3_Silent_p.S701S|FES_ENST00000394302.1_Silent_p.S618S|FES_ENST00000414248.2_Silent_p.S631S NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 759 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TGGGGGCCTCCCCCTATCCCA 0.607000 84 136 0 0 0.003610 0 0 MUC17 140453 broad.mit.edu 37 7 100677571 100677571 + Silent SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:100677571T>A ENST00000306151.4 + 3 2938 c.2874T>A c.(2872-2874)tcT>tcA p.S958S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 958 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGACCACTTCTACTGAAGCCA 0.502000 42 518 0 0 0.003610 0 0 LEFTY1 10637 broad.mit.edu 37 1 226074602 226074602 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:226074602G>A ENST00000272134.5 - 4 1005 c.926C>T c.(925-927)cCg>cTg p.P309L RP4-559A3.7_ENST00000432920.2_3'UTR NM_020997.3 NP_066277.1 O75610 LFTY1_HUMAN left-right determination factor 1 309 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) CCCCAGAAACGGCCACTTGAA 0.667000 4 35 0 0 0.009096 0 0 CTBP1-AS2 92070 broad.mit.edu 37 4 1244578 1244578 + RNA SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:1244578A>G ENST00000581398.1 + 0 532 CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA NR_033339.1 TAATGGAGAGACTTCTGGGGA 0.562000 23 30 0 0 0.002299 0 0 FAM3C 10447 broad.mit.edu 37 7 120991242 120991242 + Silent SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:120991242G>C ENST00000359943.3 - 9 762 c.549C>G c.(547-549)gtC>gtG p.V183V NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 183 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) CACCACAGAAGACCCAGTTGT 0.428000 24 60 0 0 0.002780 0 0 PHF21B 112885 broad.mit.edu 37 22 45309877 45309877 + Nonsense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr22:45309877G>T ENST00000313237.5 - 5 806 c.656C>A c.(655-657)tCa>tAa p.S219* PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 219 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) aggggacagtgatggggaggg 0.647000 24 30 1.10923e-09 1.38654e-09 0.002780 1 0 TLL1 7092 broad.mit.edu 37 4 166935588 166935588 + Splice_Site SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:166935588G>T ENST00000061240.2 + 8 1565 c.917_splice c.e8-1 p.R306_splice TLL1_ENST00000507499.1_Splice_Site_p.R306_splice|TLL1_ENST00000513213.1_Splice_Site_p.R306_splice NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 306 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTTTTTTCAGGGGGATGTTTC 0.413000 29 116 2.2171e-23 3.44033e-23 0.009535 1 0 SFTPA1 653509 broad.mit.edu 37 10 81372125 81372125 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:81372125G>T ENST00000398636.3 + 4 368 c.230G>T c.(229-231)gGa>gTa p.G77V SFTPA1_ENST00000419470.2_Missense_Mutation_p.G92V|SFTPA1_ENST00000372313.5_Missense_Mutation_p.G18V|SFTPA1_ENST00000428376.2_Missense_Mutation_p.G77V|SFTPA1_ENST00000372308.3_Missense_Mutation_p.G77V NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 77 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GGGCTGCCTGGAGCCCCTGGT 0.612000 71 130 8.13855e-26 1.2987e-25 0.003610 1 0 RTN1 6252 broad.mit.edu 37 14 60194384 60194384 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:60194384G>T ENST00000267484.5 - 3 1353 c.1018C>A c.(1018-1020)Cca>Aca p.P340T NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 340 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GCAGCAGATGGTTCTGTCGTC 0.527000 7 11 8.12818e-05 9.09871e-05 0.001984 1 0 SNCB 6620 broad.mit.edu 37 5 176056582 176056582 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:176056582C>A ENST00000310112.3 - 3 324 c.74G>T c.(73-75)gGg>gTg p.G25V SNCB_ENST00000393693.2_Missense_Mutation_p.G25V|SNCB_ENST00000506696.1_Missense_Mutation_p.G25V|SNCB_ENST00000510387.1_Missense_Mutation_p.G25V NM_001001502.1 NP_001001502.1 Q16143 SYUB_HUMAN synuclein, beta 25 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCGGTGACCCCCTGCTTGGT 0.672000 7 14 0.00448238 0.00491969 0.004482 1 0 GABRA6 2559 broad.mit.edu 37 5 161116287 161116287 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:161116287G>T ENST00000523217.1 + 5 686 c.444G>T c.(442-444)atG>atT p.M148I RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000274545.5_Missense_Mutation_p.M158I NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 158 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTGTCCCATGAGGCTGGTTA 0.408000 TCGA Ovarian(5;0.080) 40 39 2.35958e-20 3.51594e-20 0.009718 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 12 22 1.49906e-05 1.69492e-05 0.002450 1 0 HIST1H3B 8358 broad.mit.edu 37 6 26032019 26032019 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:26032019C>T ENST00000244661.2 - 1 269 c.270G>A c.(268-270)gtG>gtA p.V90V NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 90 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 GCAGCGCCATCACCGCAGAGC 0.557000 21 70 0 0 0.001882 0 0 TDRD3 81550 broad.mit.edu 37 13 61103023 61103023 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr13:61103023A>G ENST00000196169.3 + 11 2173 c.1385A>G c.(1384-1386)aAt>aGt p.N462S TDRD3_ENST00000535286.1_Missense_Mutation_p.N555S|TDRD3_ENST00000377881.2_Missense_Mutation_p.N462S|TDRD3_ENST00000377894.2_Missense_Mutation_p.N462S NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 462 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) CAAACAATAAATAATGAAGCT 0.284000 34 19 0 0 0.002836 0 0 DHX57 90957 broad.mit.edu 37 2 39088534 39088534 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:39088534C>A ENST00000295373.6 - 5 1144 c.1018G>T c.(1018-1020)Gat>Tat p.D340Y DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 340 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) AGATGAGAATCATCTACACTT 0.343000 14 28 9.31168e-06 1.05815e-05 0.001855 1 0 DHX30 22907 broad.mit.edu 37 3 47887871 47887871 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:47887871G>A ENST00000446256.2 + 12 1764 c.1192G>A c.(1192-1194)Gac>Aac p.D398N DHX30_ENST00000457607.1_Missense_Mutation_p.D465N|DHX30_ENST00000445061.1_Missense_Mutation_p.D437N|DHX30_ENST00000348968.4_Missense_Mutation_p.D409N NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 437 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GCTACCTGTGGACCCACATCG 0.657000 13 60 0 0 0.002450 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72489080 72489080 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:72489080G>C ENST00000373208.1 + 5 901 c.901G>C c.(901-903)Ggg>Cgg p.G301R ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G301R NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 301 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TGAGTCCCTGGGGGTTCATAT 0.488000 26 52 0 0 0.008361 0 0 ZNF521 25925 broad.mit.edu 37 18 22804959 22804959 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr18:22804959T>C ENST00000361524.3 - 4 3071 c.2923A>G c.(2923-2925)Act>Gct p.T975A ZNF521_ENST00000584787.1_Missense_Mutation_p.T755A|ZNF521_ENST00000538137.2_Missense_Mutation_p.T975A NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 975 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGTGTTCAGTAAGAGTTAAA 0.483000 T PAX5 ALL 41 78 0 0 0.002852 0 0 COPS5 10987 broad.mit.edu 37 8 67974210 67974210 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr8:67974210T>C ENST00000357849.4 - 1 342 c.22A>G c.(22-24)Atg>Gtg p.M8V COPS5_ENST00000517736.1_Intron|COPS5_ENST00000519963.1_5'UTR NM_006837.2 NP_006828.2 Q92905 CSN5_HUMAN COP9 signalosome subunit 5 8 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3) 14 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) TTCTGGGCCATACCGCTCCCG 0.537000 45 164 0 0 0.002852 0 0 ROBO1 6091 broad.mit.edu 37 3 78685076 78685076 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:78685076C>A ENST00000436010.2 - 21 4100 c.3103G>T c.(3103-3105)Gcc>Tcc p.A1035S ROBO1_ENST00000495273.1_Missense_Mutation_p.A1029S|ROBO1_ENST00000464233.1_Missense_Mutation_p.A1074S|ROBO1_ENST00000467549.1_Missense_Mutation_p.A974S Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1074 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGAGTGGTGGCGTAAGGAGTA 0.488000 18 69 3.62473e-10 4.55623e-10 0.001882 1 0 UMODL1 89766 broad.mit.edu 37 21 43491428 43491428 + Translation_Start_Site SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr21:43491428G>A ENST00000408989.2 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I UMODL1_ENST00000400427.1_Intron|UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408910.2_Start_Codon_SNP_p.M1I NM_173568.3 NP_775839.3 Q5DID0 UROL1_HUMAN uromodulin-like 1 1 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GCCGGACGATGCTCAGGACCT 0.662000 6 10 0 0 0.001168 0 0 RFX6 222546 broad.mit.edu 37 6 117248302 117248302 + Silent SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:117248302A>C ENST00000332958.2 + 17 2014 c.1998A>C c.(1996-1998)ccA>ccC p.P666P NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 666 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GGAGGCCCCCAAGTGTGGGCC 0.522000 58 42 0 0 0.003610 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51630302 51630302 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:51630302G>T ENST00000440804.3 + 4 831 c.764G>T c.(763-765)gGa>gTa p.G255V SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G255V NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 255 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ACAGTCTTGGGAAATGGCTCA 0.507000 22 70 5.26018e-13 7.21671e-13 0.001882 1 0 FLG 2312 broad.mit.edu 37 1 152280910 152280910 + Missense_Mutation SNP C C T rs146106776 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:152280910C>T ENST00000368799.1 - 3 6487 c.6452G>A c.(6451-6453)gGg>gAg p.G2151E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2151 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) TTGGTGGGACCCCTGTCTTCC 0.582000 Ichthyosis 293 186 0 0 0.003610 0 0 KDM5B 10765 broad.mit.edu 37 1 202733256 202733256 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:202733256T>C ENST00000367265.3 - 6 1893 c.729A>G c.(727-729)atA>atG p.I243M KDM5B_ENST00000367264.2_Missense_Mutation_p.I279M NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 243 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CCTCGGGTTCTATTTTAATAT 0.333000 10 55 0 0 0.000978 0 0 DENND4A 10260 broad.mit.edu 37 15 65983463 65983463 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:65983463C>A ENST00000443035.3 - 23 3681 c.3466G>T c.(3466-3468)Gat>Tat p.D1156Y DENND4A_ENST00000431932.2_Missense_Mutation_p.D1113Y NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TCCACTTTATCTGCCAAATAG 0.363000 9 22 2.74318e-10 3.48709e-10 0.006214 1 0 XDH 7498 broad.mit.edu 37 2 31602826 31602826 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:31602826G>A ENST00000379416.3 - 13 1197 c.1149C>T c.(1147-1149)gtC>gtT p.V383V NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 383 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGTCCATCTGGACAGTTCTCC 0.552000 36 51 0 0 0.006230 0 0 GTF3C4 9329 broad.mit.edu 37 9 135553983 135553983 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:135553983G>A ENST00000372146.4 + 2 1541 c.977G>A c.(976-978)cGa>cAa p.R326Q GTF3C4_ENST00000483873.2_Intron NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 326 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) CACAATAATCGAAAAATGAGT 0.413000 98 34 0 0 0.003610 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874354 31874354 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr21:31874354C>A ENST00000334151.2 - 1 81 c.55G>T c.(55-57)Gat>Tat p.D19Y NM_181611.1 NP_853642.1 Q3LI72 KR195_HUMAN keratin associated protein 19-5 19 intermediate filament protein binding endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1) 12 CCCAGGTCATCGAAGCCTCCG 0.587000 47 69 1.61863e-15 2.30501e-15 0.003610 1 0 KRT37 8688 broad.mit.edu 37 17 39579093 39579093 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:39579093G>T ENST00000225550.3 - 3 668 c.669C>A c.(667-669)gaC>gaA p.D223E AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 223 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) GGGCCTCCAGGTCGGCCTTGG 0.667000 37 30 4.00102e-26 6.47647e-26 0.006230 1 0 KIFAP3 22920 broad.mit.edu 37 1 170015993 170015993 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:170015993C>A ENST00000367765.1 - 3 1560 c.59G>T c.(58-60)aGt>aTt p.S20I KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000367767.1_Missense_Mutation_p.S16I|KIFAP3_ENST00000490550.1_5'UTR|KIFAP3_ENST00000361580.2_Missense_Mutation_p.S60I NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 60 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGCATTGAGACTCTTAAGTCG 0.313000 42 26 6.1244e-12 8.20232e-12 0.007835 1 0 SLITRK1 114798 broad.mit.edu 37 13 84454777 84454777 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr13:84454777G>A ENST00000377084.2 - 1 1751 c.866C>T c.(865-867)cCt>cTt p.P289L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 289 integral to membrane p.P289H(1)|p.P289L(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGTCTTGAAAGGAGTTGGCAG 0.537000 12 15 0 0 0.000978 0 0 CRB2 286204 broad.mit.edu 37 9 126125191 126125191 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:126125191G>A ENST00000373631.3 + 2 143 c.142G>A c.(142-144)Gct>Act p.A48T CRB2_ENST00000359999.3_Missense_Mutation_p.A48T NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 48 extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 AGACCCGTGCGCTCCAGGGAC 0.647000 92 21 0 0 0.003610 0 0 RHOH 399 broad.mit.edu 37 4 40245368 40245368 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:40245368G>T ENST00000381799.4 + 3 1086 c.362G>T c.(361-363)cGg>cTg p.R121L RHOH_ENST00000505618.1_Missense_Mutation_p.R121L NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 121 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 ACTGACCAGCGGGAGATGGGG 0.567000 8 23 5.18039e-06 5.91669e-06 0.003080 1 0 TECRL 253017 broad.mit.edu 37 4 65188467 65188467 + Silent SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:65188467T>A ENST00000381210.3 - 4 485 c.375A>T c.(373-375)gcA>gcT p.A125A TECRL_ENST00000507440.1_Silent_p.A125A NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 125 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TGGAGGAAGCTGCAATACTTT 0.318000 7 25 0 0 0.003080 0 0 HOXA13 3209 broad.mit.edu 37 7 27238817 27238817 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:27238817C>A ENST00000222753.4 - 1 908 c.880G>T c.(880-882)Gag>Tag p.E294* HOTTIP_ENST00000421733.1_RNA NM_000522.4 NP_000513.2 P31271 HXA13_HUMAN homeobox A13 294 skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 TGCGCCTGCTCTTTGGGGCAG 0.637000 T NUP98 AML 15 31 4.7546e-09 5.91042e-09 0.004007 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68274527 68274527 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:68274527C>A ENST00000347230.4 - 5 612 c.474G>T c.(472-474)tgG>tgT p.W158C ZFYVE26_ENST00000555452.1_Missense_Mutation_p.W158C NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 158 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCAGGAGATCCCAGAGCACAG 0.602000 69 62 5.80444e-35 9.74625e-35 0.003610 1 0 REG3G 130120 broad.mit.edu 37 2 79255050 79255050 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:79255050A>G ENST00000272324.5 + 5 635 c.451A>G c.(451-453)Aga>Gga p.R151G REG3G_ENST00000409471.1_Missense_Mutation_p.R105G|REG3G_ENST00000393897.2_Missense_Mutation_p.R151G NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 151 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GAGCCTGTCAAGAAGCACAGG 0.478000 37 47 0 0 0.006999 0 0 ARNT2 9915 broad.mit.edu 37 15 80847406 80847406 + Splice_Site SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:80847406G>C ENST00000533983.1 + 12 1396 c.1056_splice c.e12-1 p.D353_splice RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000303329.4_Splice_Site_p.D364_splice|ARNT2_ENST00000527771.1_Splice_Site_p.D353_splice Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 364 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) TTTTATTTAGGATCTTCTGGG 0.398000 33 97 0 0 0.002836 0 0 PRDM9 56979 broad.mit.edu 37 5 23522875 23522875 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:23522875C>A ENST00000296682.3 + 8 945 c.763C>A c.(763-765)Cag>Aag p.Q255K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 255 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGGCATCCCTCAGGCTGGGCT 0.572000 HNSCC(3;0.000094) 19 31 2.37509e-13 3.29874e-13 0.010504 1 0 RBFOX1 54715 broad.mit.edu 37 16 7383079 7383079 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr16:7383079G>T ENST00000340209.4 + 1 329 c.32G>T c.(31-33)gGa>gTa p.G11V RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000535565.2_Intron|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G26V|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G26V|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G26V|RBFOX1_ENST00000547372.1_Intron Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 0 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TACCTTCCTGGACTGATTCAG 0.453000 39 55 3.33393e-15 4.71783e-15 0.004878 1 0 SLC29A3 55315 broad.mit.edu 37 10 73082704 73082704 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:73082704C>T ENST00000373189.5 + 2 245 c.193C>T c.(193-195)Cta>Tta p.L65L NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 65 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 CATTGGCAGTCTACTGCCATG 0.597000 5 78 0 0 0.001168 0 0 ZNF43 7594 broad.mit.edu 37 19 22018896 22018896 + Translation_Start_Site SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:22018896G>T ENST00000354959.4 - 0 114 ZNF43_ENST00000598288.1_Intron|ZNF43_ENST00000595461.1_Intron|ZNF43_ENST00000598381.1_Intron|ZNF43_ENST00000594012.1_Intron NM_003423.3 NP_003414.2 P17038 ZNF43_HUMAN zinc finger protein 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AATACCCGCAGGTCACAGAGC 0.622000 13 38 1.61879e-10 2.0813e-10 0.001368 1 0 FAM208B 54906 broad.mit.edu 37 10 5790473 5790473 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:5790473G>T ENST00000328090.5 + 15 5714 c.5089G>T c.(5089-5091)Ggt>Tgt p.G1697C NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1697 GCTTAAGAATGGTGAGCCTGA 0.458000 25 37 7.87624e-14 1.10072e-13 0.002780 1 0 GCM1 8521 broad.mit.edu 37 6 52993452 52993452 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:52993452T>A ENST00000259803.7 - 6 1074 c.863A>T c.(862-864)tAc>tTc p.Y288F NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 288 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) ATGATCAGAGTAGACTCCGGA 0.473000 21 36 0 0 0.010504 0 0 FAT2 2196 broad.mit.edu 37 5 150911504 150911504 + Missense_Mutation SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:150911504A>C ENST00000261800.5 - 13 9467 c.9455T>G c.(9454-9456)cTg>cGg p.L3152R NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3152 Cadherin 28. 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) TGAATCCGGCAGAGAGTAAAC 0.642000 16 50 0 0 0.004990 0 0 CNGA3 1261 broad.mit.edu 37 2 99012950 99012950 + Silent SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:99012950G>T ENST00000393504.1 + 8 1734 c.1317G>T c.(1315-1317)cgG>cgT p.R439R CNGA3_ENST00000272602.2_Silent_p.R439R|CNGA3_ENST00000409937.1_Silent_p.R443R|CNGA3_ENST00000436404.2_Silent_p.R421R NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 439 R -> W (in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; coexpression of the CNGB3 subunit compensate completely for the slightly higher apparent cGMP sensitivity of homomers; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature). signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GGGTTATCCGGTGGTTTGACT 0.547000 16 32 1.3612e-06 1.61195e-06 0.003163 1 0 C14orf159 80017 broad.mit.edu 37 14 91671070 91671070 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:91671070G>A ENST00000518868.1 + 15 2155 c.1465G>A c.(1465-1467)Gag>Aag p.E489K C14orf159_ENST00000428926.2_Missense_Mutation_p.E484K|C14orf159_ENST00000256324.10_Missense_Mutation_p.E489K|C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000520328.1_Intron|C14orf159_ENST00000525393.2_Missense_Mutation_p.E360K|C14orf159_ENST00000523816.1_Missense_Mutation_p.E484K|C14orf159_ENST00000412671.2_Missense_Mutation_p.E489K|C14orf159_ENST00000523771.1_Missense_Mutation_p.E484K|C14orf159_ENST00000522322.1_Missense_Mutation_p.E484K Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 484 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGGAGGCAACGAGCTTGGGAT 0.602000 5 11 0 0 0.000602 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237891 140237891 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:140237891G>A ENST00000307360.5 + 1 2258 c.2258G>A c.(2257-2259)cGg>cAg p.R753Q PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCAGAGGCGGCAGAGGGTG 0.672000 14 12 0 0 0.002450 0 0 PAK1 5058 broad.mit.edu 37 11 77054934 77054934 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:77054934C>A ENST00000356341.3 - 10 1459 c.928G>T c.(928-930)Gag>Tag p.E310* PAK1_ENST00000278568.4_Nonsense_Mutation_p.E310*|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Nonsense_Mutation_p.E212*|PAK1_ENST00000530617.1_Nonsense_Mutation_p.E310* NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 310 Protein kinase. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) ATAATCAGCTCTTTCTTGGGC 0.428000 18 76 1.2644e-06 1.50524e-06 0.010504 1 0 SOX6 55553 broad.mit.edu 37 11 16010775 16010775 + Splice_Site SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:16010775T>G ENST00000352083.6 - 14 1811 c.1732_splice c.e14-1 p.G578_splice SOX6_ENST00000396356.3_Intron|SOX6_ENST00000528252.1_Splice_Site_p.G551_splice|SOX6_ENST00000316399.6_Intron|SOX6_ENST00000528429.1_Splice_Site_p.G578_splice|SOX6_ENST00000527619.1_Splice_Site_p.G554_splice P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 578 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 TTGCTTTACTTCCTGTAATGT 0.502000 OREG0020800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 19 0 0 0.007413 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454778 84454778 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr13:84454778G>T ENST00000377084.2 - 1 1750 c.865C>A c.(865-867)Cct>Act p.P289T NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 289 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTCTTGAAAGGAGTTGGCAGG 0.542000 12 15 0.000978159 0.00108953 0.000978 1 0 FAM47B 170062 broad.mit.edu 37 X 34962130 34962130 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chrX:34962130G>T ENST00000329357.5 + 1 1218 c.1182G>T c.(1180-1182)atG>atT p.M394I NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 394 p.M394I(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AGAGTCGGATGCCCCATCTCC 0.582000 24 5 1.1804e-14 1.65993e-14 0.003954 1 0 DPY19L2 283417 broad.mit.edu 37 12 64041052 64041052 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:64041052G>C ENST00000324472.4 - 5 865 c.682C>G c.(682-684)Cct>Gct p.P228A RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 228 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TCATTAAGAGGTTCTATTCTG 0.318000 19 39 0 0 0.010504 0 0 SDHAP1 255812 broad.mit.edu 37 3 195690271 195690271 + RNA SNP T T A rs115852167 by1000genomes TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:195690271T>A ENST00000427841.1 - 0 2224 NR_003264.2 TTGTCGATTATGGGTCTATAT 0.403000 11 36 0 0 0.006122 0 0 ZNF442 79973 broad.mit.edu 37 19 12461745 12461745 + Silent SNP A A G rs117398535 byFrequency TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:12461745A>G ENST00000242804.4 - 6 1236 c.654T>C c.(652-654)ttT>ttC p.F218F ZNF442_ENST00000438182.1_Silent_p.F149F NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TAGGCCAAAAAAAGGCTTTCC 0.403000 5 107 0 0 0.000602 0 0 MAGI3 260425 broad.mit.edu 37 1 114189171 114189171 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:114189171A>G ENST00000369615.1 + 12 2124 c.2062A>G c.(2062-2064)Atg>Gtg p.M688V MAGI3_ENST00000369617.4_Missense_Mutation_p.M713V|MAGI3_ENST00000369611.4_Missense_Mutation_p.M688V|MAGI3_ENST00000307546.9_Missense_Mutation_p.M688V NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 713 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTCAGCCTATGCCTTTTCC 0.373000 34 53 0 0 0.007835 0 0 CBFA2T3 863 broad.mit.edu 37 16 88967957 88967957 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr16:88967957C>T ENST00000268679.4 - 2 655 c.259G>A c.(259-261)Gca>Aca p.A87T CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A87T|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.A26T|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.A26T NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 87 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) CCCTGGGATGCGGCAGGCGGT 0.697000 T RUNX1 AML 12 19 0 0 0.001855 0 0 PCNXL2 80003 broad.mit.edu 37 1 233388166 233388166 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:233388166C>A ENST00000258229.8 - 7 2296 c.2062G>T c.(2062-2064)Ggg>Tgg p.G688W PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 688 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTTTCAGGCCCACTGATGACT 0.388000 16 81 1.99824e-07 2.40429e-07 0.004990 1 0 HK3 3101 broad.mit.edu 37 5 176309050 176309050 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:176309050A>T ENST00000292432.5 - 16 2223 c.2132T>A c.(2131-2133)aTc>aAc p.I711N NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 711 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCCATGTTGATGCACATGCG 0.627000 36 35 0 0 0.003271 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52941190 52941190 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:52941190T>A ENST00000371544.3 - 13 2303 c.2041A>T c.(2041-2043)Agg>Tgg p.R681W ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R681W|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 681 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GCAACATTCCTCTTGACTGAA 0.403000 8 16 0 0 0.004482 0 0 EIF4B 1975 broad.mit.edu 37 12 53427616 53427616 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:53427616C>G ENST00000262056.9 + 9 1332 c.1006C>G c.(1006-1008)Cta>Gta p.L336V EIF4B_ENST00000420463.3_Missense_Mutation_p.L336V|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.L297V NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 336 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CAAACTGAATCTAAAGCCTCG 0.458000 13 40 0 0 0.001855 0 0 MYO1G 64005 broad.mit.edu 37 7 45010484 45010484 + Nonsense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:45010484T>A ENST00000258787.7 - 8 1157 c.1021A>T c.(1021-1023)Aag>Tag p.K341* NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 341 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 GTGTGGCCCTTCTCTATGAGT 0.662000 12 28 0 0 0.001855 0 0 MED27 9442 broad.mit.edu 37 9 134738450 134738450 + Splice_Site SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:134738450C>A ENST00000292035.5 - 7 864 c.801_splice c.e7+1 p.M267_splice MED27_ENST00000372184.3_Splice_Site_p.M231_splice|MED27_ENST00000357028.2_Splice_Site_p.M193_splice NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 267 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) AGCCACTTACCATGAAGGATC 0.537000 24 8 4.72057e-08 5.71037e-08 0.003954 1 0 FGF8 2253 broad.mit.edu 37 10 103530295 103530295 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:103530295C>T ENST00000347978.2 - 5 608 c.439G>A c.(439-441)Gag>Aag p.E147K FGF8_ENST00000344255.3_Missense_Mutation_p.E165K|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000320185.2_Missense_Mutation_p.E176K|FGF8_ENST00000346714.3_Missense_Mutation_p.E136K NM_006119.4 NP_006110.1 P55075 FGF8_HUMAN fibroblast growth factor 8 (androgen-induced) 165 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) TACCAGCCCTCGTACTTGGCA 0.627000 15 28 0 0 0.004990 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52146834 52146834 + Silent SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:52146834A>C ENST00000360844.6 - 6 1145 c.1104T>G c.(1102-1104)gcT>gcG p.A368A SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 368 cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GGAGGAAGCCAGCCCCCATGA 0.597000 26 40 0 0 0.004656 0 0 ASPM 259266 broad.mit.edu 37 1 197101446 197101446 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:197101446T>C ENST00000367409.4 - 7 2712 c.2456A>G c.(2455-2457)tAc>tGc p.Y819C ASPM_ENST00000367408.1_Missense_Mutation_p.Y69C|ASPM_ENST00000294732.7_Missense_Mutation_p.Y819C NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 819 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CAAAGGATTGTAGGACAACAG 0.308000 22 45 0 0 0.005443 0 0 GDF6 392255 broad.mit.edu 37 8 97157010 97157010 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr8:97157010G>A ENST00000287020.5 - 2 1248 c.1149C>T c.(1147-1149)tgC>tgT p.C383C NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 383 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) ATACACCCTCGCAGTGATAGG 0.637000 8 27 0 0 0.004482 0 0 DNAH5 1767 broad.mit.edu 37 5 13864539 13864539 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:13864539C>A ENST00000265104.4 - 28 4667 c.4563G>T c.(4561-4563)gaG>gaT p.E1521D CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1521 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GAAGAGGTGCCTCCATGATAT 0.408000 Kartagener syndrome 27 33 2.79863e-10 3.5376e-10 0.004656 1 0 OR4C16 219428 broad.mit.edu 37 11 55340174 55340174 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:55340174T>A ENST00000314634.3 + 1 571 c.571T>A c.(571-573)Tat>Aat p.Y191N NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TTCAGAAACCTATGTGGTTAA 0.438000 42 50 0 0 0.003610 0 0 HPSE2 60495 broad.mit.edu 37 10 100481488 100481488 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:100481488C>A ENST00000370552.3 - 5 941 c.882G>T c.(880-882)cgG>cgT p.R294R HPSE2_ENST00000404542.1_Silent_p.R182R|HPSE2_ENST00000370549.1_Silent_p.R236R|HPSE2_ENST00000370546.1_Silent_p.R294R NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 294 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TGGAATAAATCCGGATGGGCT 0.493000 28 42 1.17739e-12 1.60554e-12 0.005443 1 0 PCDHB10 56126 broad.mit.edu 37 5 140574220 140574220 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:140574220G>T ENST00000239446.4 + 1 2279 c.2095G>T c.(2095-2097)Gtg>Ttg p.V699L NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 699 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTGGCCTCGGTGTCTTCGCT 0.716000 21 62 1.36615e-20 2.04922e-20 0.002836 1 0 PACSIN3 29763 broad.mit.edu 37 11 47201066 47201066 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:47201066T>A ENST00000539589.1 - 7 1017 c.675A>T c.(673-675)gaA>gaT p.E225D PACSIN3_ENST00000298838.6_Missense_Mutation_p.E225D NM_001184975.1 NP_001171904.1 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in neurons 3 225 endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 CAAAGGCCTGTTCCATGTCCT 0.582000 OREG0020952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 43 0 0 0.010504 0 0 CPS1 1373 broad.mit.edu 37 2 211503873 211503873 + Splice_Site SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:211503873G>T ENST00000233072.5 + 23 3025 c.e23-1 CPS1_ENST00000430249.2_Splice_Site|CPS1_ENST00000497121.1_Splice_Site|CPS1_ENST00000451903.2_Splice_Site NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTCTCTTACAGATTGATACAC 0.303000 10 18 1.58986e-06 1.87288e-06 0.008291 1 0 ZNF816 125893 broad.mit.edu 37 19 53459280 53459280 + Splice_Site SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:53459280C>A ENST00000357666.4 - 3 363 c.63_splice c.e3+1 p.Q21_splice ZNF321P_ENST00000391777.3_Splice_Site_p.Q21_splice|ZNF816_ENST00000535506.1_Splice_Site_p.Q21_splice|ZNF816_ENST00000270457.4_Splice_Site_p.Q21_splice|ZNF816_ENST00000438970.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000391786.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000444460.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000434371.2_Splice_Site_p.Q21_splice NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TATCACTTACCTGAGGAAGAG 0.428000 36 75 6.90743e-12 9.14218e-12 0.003755 1 0 SNCA 6622 broad.mit.edu 37 4 90756779 90756779 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:90756779C>T ENST00000394989.2 - 2 302 c.40G>A c.(40-42)Gga>Aga p.G14R SNCA_ENST00000394991.3_Missense_Mutation_p.G14R|SNCA_ENST00000508895.1_Missense_Mutation_p.G14R|SNCA_ENST00000394986.1_Missense_Mutation_p.G14R|SNCA_ENST00000420646.2_Missense_Mutation_p.G14R|SNCA_ENST00000345009.4_Missense_Mutation_p.G14R|SNCA_ENST00000502987.1_Missense_Mutation_p.G14R|SNCA_ENST00000505199.1_Missense_Mutation_p.G14R|SNCA_ENST00000506244.1_Missense_Mutation_p.G14R|SNCA_ENST00000336904.3_Missense_Mutation_p.G14R P37840 SYUA_HUMAN synuclein, alpha (non A4 component of amyloid precursor) 14 activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) GCCACAACTCCCTCCTTGGCC 0.423000 17 43 0 0 0.004990 0 0 STK11 6794 broad.mit.edu 37 19 1220715 1220715 + Splice_Site SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:1220715C>T ENST00000326873.7 + 5 1906 c.734_splice c.e5+1 p.L245_splice NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 245 Protein kinase. L -> R (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGGTCACCCTGTAAGTGCC 0.706000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 17 9 0 0 0.010504 0 0 DCAF6 55827 broad.mit.edu 37 1 168032861 168032861 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:168032861G>T ENST00000367840.3 + 18 2397 c.2303G>T c.(2302-2304)cGc>cTc p.R768L DCAF6_ENST00000367843.3_Missense_Mutation_p.R697L|DCAF6_ENST00000312263.6_Missense_Mutation_p.R677L|DCAF6_ENST00000432587.2_Missense_Mutation_p.R737L NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 677 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TCATATAGACGCTCTGCTGTT 0.299000 6 9 5.9392e-07 7.10809e-07 0.001168 1 0 DHX30 22907 broad.mit.edu 37 3 47887817 47887817 + Missense_Mutation SNP G G C rs71328953 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:47887817G>C ENST00000446256.2 + 12 1710 c.1138G>C c.(1138-1140)Gaa>Caa p.E380Q DHX30_ENST00000457607.1_Missense_Mutation_p.E447Q|DHX30_ENST00000445061.1_Missense_Mutation_p.E419Q|DHX30_ENST00000348968.4_Missense_Mutation_p.E391Q NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 419 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GAGTCTGCTAGAACTGTGGCG 0.632000 23 86 0 0 0.002780 0 0 DNAH10 196385 broad.mit.edu 37 12 124414242 124414242 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:124414242C>T ENST00000409039.3 + 71 12219 c.12194C>T c.(12193-12195)aCg>aTg p.T4065M CCDC92_ENST00000544798.1_Intron|DNAH10OS_ENST00000514254.2_3'UTR NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4065 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.T4065M(1)|p.T2657M(1) 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) ACGTACTTAACGAAAGCCTTC 0.507000 4 23 0 0 0.009096 0 0 LAMB1 3912 broad.mit.edu 37 7 107615715 107615715 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:107615715A>G ENST00000393561.1 - 9 1589 c.1405T>C c.(1405-1407)Tat>Cat p.Y469H LAMB1_ENST00000393560.1_Missense_Mutation_p.Y445H|LAMB1_ENST00000222399.6_Missense_Mutation_p.Y445H P07942 LAMB1_HUMAN laminin, beta 1 445 Laminin EGF-like 4. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTAAATCATAGAAGCCTTCT 0.363000 36 58 0 0 0.002522 0 0 ANO6 196527 broad.mit.edu 37 12 45725191 45725191 + Silent SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:45725191A>C ENST00000320560.8 + 3 466 c.264A>C c.(262-264)acA>acC p.T88T ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Silent_p.T109T|ANO6_ENST00000435642.1_Silent_p.T88T|ANO6_ENST00000441606.2_Silent_p.T70T|ANO6_ENST00000425752.2_Silent_p.T88T NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 88 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 AAAAGGGTACAAATGAAAAAC 0.299000 13 24 0 0 0.002450 0 0 COL2A1 1280 broad.mit.edu 37 12 48387269 48387269 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:48387269G>A ENST00000380518.3 - 15 1105 c.941C>T c.(940-942)cCg>cTg p.P314L COL2A1_ENST00000337299.6_Missense_Mutation_p.P245L NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 314 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GTTCTCACCCGGGGAACCACT 0.542000 7 35 0 0 0.001984 0 0 LILRB4 11006 broad.mit.edu 37 19 55175722 55175722 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:55175722G>A ENST00000391736.1 + 6 756 c.441G>A c.(439-441)cgG>cgA p.R147R LILRB4_ENST00000430952.2_Silent_p.R147R|LILRB4_ENST00000391733.3_Silent_p.R147R|LILRB4_ENST00000391734.3_Silent_p.R147R|LILRB4_ENST00000270452.2_Silent_p.R147R NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 147 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GTCAGTCACGGAGCCCAATGG 0.572000 36 71 0 0 0.003271 0 0 TXLNB 167838 broad.mit.edu 37 6 139591688 139591688 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:139591688C>A ENST00000358430.3 - 4 824 c.592G>T c.(592-594)Gac>Tac p.D198Y NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 198 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TGTAACTGGTCCTTTTCTTTT 0.443000 28 18 8.24728e-16 1.18194e-15 0.004656 1 0 NLRP7 199713 broad.mit.edu 37 19 55453058 55453058 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:55453058A>T ENST00000588756.1 - 4 508 c.22T>A c.(22-24)Tgg>Agg p.W8R NLRP7_ENST00000590030.1_Missense_Mutation_p.W8R|NLRP7_ENST00000592784.1_Missense_Mutation_p.W8R|NLRP7_ENST00000340844.2_Missense_Mutation_p.W8R|NLRP7_ENST00000448121.2_Missense_Mutation_p.W8R|NLRP7_ENST00000446217.1_Missense_Mutation_p.W36R|NLRP7_ENST00000328092.5_Missense_Mutation_p.W8R Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 8 DAPIN. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGCAGAGTCCACTCTAGCTGG 0.478000 18 23 0 0 0.007413 0 0 MUC6 4588 broad.mit.edu 37 11 1025300 1025300 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:1025300C>G ENST00000421673.2 - 23 2917 c.2867G>C c.(2866-2868)gGg>gCg p.G956A NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 956 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGGCGTCACCCCGAGCTGCAC 0.642000 10 51 0 0 0.006214 0 0 ZMAT3 64393 broad.mit.edu 37 3 178785396 178785396 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:178785396C>T ENST00000311417.2 - 2 886 c.145G>A c.(145-147)Ggg>Agg p.G49R ZMAT3_ENST00000432729.1_Missense_Mutation_p.G49R NM_022470.3 NP_071915.1 Q9HA38 ZMAT3_HUMAN zinc finger, matrin-type 3 49 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1) 14 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) TCTTCTTCCCCTGCAAGAGGC 0.557000 39 26 0 0 0.004289 0 0 MYH13 8735 broad.mit.edu 37 17 10212750 10212750 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:10212750G>A ENST00000418404.3 - 34 5133 c.4970C>T c.(4969-4971)tCc>tTc p.S1657F MYH13_ENST00000252172.4_Missense_Mutation_p.S1657F|MYH13_ENST00000570743.1_Missense_Mutation_p.S1657F Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1657 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ATGCAGCTGGGAGTCCTGCAG 0.672000 3 9 0 0 0.004672 0 0 KLF11 8462 broad.mit.edu 37 2 10186425 10186425 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:10186425G>A ENST00000535335.1 + 2 356 c.140G>A c.(139-141)gGt>gAt p.G47D KLF11_ENST00000540845.1_Missense_Mutation_p.G47D|KLF11_ENST00000305883.1_Missense_Mutation_p.G64D NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 64 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) TCCCAGAAAGGTGACCTGTTG 0.527000 17 24 0 0 0.006122 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140798727 140798727 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:140798727C>T ENST00000398594.2 + 1 1301 c.1301C>T c.(1300-1302)tCc>tTc p.S434F PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGTTATCCTCCAGCAAAACC 0.552000 5 41 0 0 0.001168 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136650 40136650 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:40136650G>T ENST00000278198.2 - 2 3156 c.1193C>A c.(1192-1194)gCg>gAg p.A398E LRRC4C_ENST00000530763.1_Missense_Mutation_p.A398E|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A398E|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A398E Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 398 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CACTTTGTACGCCCCATGTGT 0.463000 55 87 4.32865e-36 7.37838e-36 0.003610 1 0 SMAD4 4089 broad.mit.edu 37 18 48581339 48581339 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr18:48581339C>T ENST00000342988.3 + 5 1181 c.643C>T c.(643-645)Ccc>Tcc p.P215S SMAD4_ENST00000452201.2_3'UTR|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Missense_Mutation_p.P215S|SMAD4_ENST00000588745.1_Missense_Mutation_p.P215S NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 215 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(3) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGCCAACTTTCCCAACATTCC 0.463000 49 37 0 0 0.003610 0 0 USH2A 7399 broad.mit.edu 37 1 216062172 216062172 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:216062172C>A ENST00000366943.2 - 41 8205 c.7819G>T c.(7819-7821)Gga>Tga p.G2607* RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.G2607* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2607 Fibronectin type-III 12. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGGAACATCCTTTTGAAGTG 0.473000 HNSCC(13;0.011) 62 37 5.19286e-32 8.52842e-32 0.003610 1 0 CASQ1 844 broad.mit.edu 37 1 160171074 160171074 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:160171074C>T ENST00000368079.3 + 11 1356 c.1081C>T c.(1081-1083)Ctg>Ttg p.L361L CASQ1_ENST00000368078.3_Silent_p.L367L|CASQ1_ENST00000467691.1_Silent_p.L88L NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 367 Asp-rich. mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGAGGAGGACCTGCCTTCTGC 0.547000 14 9 0 0 0.003163 0 0 FAM3C 10447 broad.mit.edu 37 7 120991230 120991230 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:120991230C>A ENST00000359943.3 - 9 774 c.561G>T c.(559-561)ggG>ggT p.G187G NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 187 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) TAATGCCCTTCCCACCACAGA 0.418000 26 64 2.16457e-27 3.5292e-27 0.008361 1 0 PTPRB 5787 broad.mit.edu 37 12 71029742 71029742 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:71029742A>G ENST00000334414.6 - 2 204 c.160T>C c.(160-162)Tgg>Cgg p.W54R PTPRB_ENST00000550358.1_Missense_Mutation_p.W54R|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.W53R NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCCTCAGTCCACATCCACTGC 0.512000 8 14 0 0 0.004482 0 0 CRTAC1 55118 broad.mit.edu 37 10 99664469 99664469 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:99664469C>A ENST00000370597.3 - 7 1308 c.953G>T c.(952-954)cGc>cTc p.R318L CRTAC1_ENST00000370591.2_Missense_Mutation_p.R318L|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R318L NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 318 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CAGATAGAGGCGGTGGGGGCC 0.597000 39 73 1.8453e-21 2.80535e-21 0.002522 1 0 FGFR2 2263 broad.mit.edu 37 10 123279634 123279634 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:123279634G>A ENST00000358487.5 - 7 1070 c.798C>T c.(796-798)gcC>gcT p.A266A FGFR2_ENST00000356226.4_Silent_p.A151A|FGFR2_ENST00000360144.3_Silent_p.A177A|FGFR2_ENST00000369060.4_Silent_p.A266A|FGFR2_ENST00000457416.2_Silent_p.A266A|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000369056.1_Silent_p.A266A|FGFR2_ENST00000357555.5_Silent_p.A177A|FGFR2_ENST00000369059.1_Silent_p.A151A|FGFR2_ENST00000478859.1_Silent_p.A38A|FGFR2_ENST00000351936.6_Silent_p.A266A|FGFR2_ENST00000346997.2_Silent_p.A266A|FGFR2_ENST00000490349.1_5'UTR NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 266 Ig-like C2-type 3. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CCACTGTGGAGGCATTTGCCG 0.577000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 5 43 0 0 0.000602 0 0 GRM8 2918 broad.mit.edu 37 7 126746607 126746607 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:126746607C>G ENST00000339582.2 - 3 1478 c.670G>C c.(670-672)Gag>Cag p.E224Q GRM8_ENST00000444921.2_Missense_Mutation_p.E224Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E224Q|GRM8_ENST00000405249.1_Missense_Mutation_p.E224Q O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 224 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TAGTTCCCCTCAGAAGCCAGT 0.498000 HNSCC(24;0.065) 22 29 0 0 0.002780 0 0 MFN2 9927 broad.mit.edu 37 1 12058906 12058906 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:12058906G>A ENST00000235329.5 + 7 1001 c.679G>A c.(679-681)Gcc>Acc p.A227T MFN2_ENST00000444836.1_Missense_Mutation_p.A227T NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 227 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TGTGCTGGTGGCCAACTCAGA 0.562000 72 80 0 0 0.003610 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711687 155711687 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:155711687C>T ENST00000295101.2 + 3 1845 c.1368C>T c.(1366-1368)acC>acT p.T456T NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 456 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CTAAAACCACCAAGATGTTAT 0.468000 30 37 0 0 0.008361 0 0 VN1R4 317703 broad.mit.edu 37 19 53770108 53770108 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:53770108C>A ENST00000311170.4 - 1 864 c.811G>T c.(811-813)Gcc>Tcc p.A271S NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 271 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) CTCATTAAGGCTGAAGTGTTC 0.438000 HNSCC(26;0.072) 23 40 3.83957e-06 4.45311e-06 0.002780 1 0 KCNC2 3747 broad.mit.edu 37 12 75601467 75601467 + Silent SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr12:75601467G>C ENST00000549446.1 - 2 977 c.297C>G c.(295-297)ggC>ggG p.G99G KCNC2_ENST00000548513.1_Silent_p.G99G|KCNC2_ENST00000393288.2_Silent_p.G99G|KCNC2_ENST00000550433.1_Silent_p.G99G|KCNC2_ENST00000298972.1_Silent_p.G99G|KCNC2_ENST00000341669.3_Silent_p.G99G|KCNC2_ENST00000350228.2_Silent_p.G99G|KCNC2_ENST00000540018.1_Silent_p.G99G NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 99 Gly/Pro-rich (insert). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 AGAACTCGCGGCCGCCACCGG 0.731000 4 6 0 0 0.001168 0 0 F11R 50848 broad.mit.edu 37 1 160969998 160969998 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:160969998G>A ENST00000368026.6 - 5 803 c.529C>T c.(529-531)Ccc>Tcc p.P177S F11R_ENST00000537746.1_Missense_Mutation_p.P128S|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000472573.1_5'UTR NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 177 Ig-like V-type 2. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) GTGCTTTTGGGATTCGTAGGC 0.517000 38 84 0 0 0.004289 0 0 FNBP1L 54874 broad.mit.edu 37 1 94014886 94014886 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:94014886C>T ENST00000260506.8 + 13 1531 c.1380C>T c.(1378-1380)ccC>ccT p.P460P FNBP1L_ENST00000370253.2_Silent_p.P460P|FNBP1L_ENST00000271234.7_Silent_p.P518P|FNBP1L_ENST00000370256.4_Silent_p.P513P|FNBP1L_ENST00000604705.1_Silent_p.P518P NM_001024948.2|NM_017737.4 NP_001020119.1|NP_060207.2 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like 518 Interaction with CDC42. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) GTGGGCCACCCCAGCAGCATG 0.418000 14 30 0 0 0.006122 0 0 CTR9 9646 broad.mit.edu 37 11 10778300 10778300 + Missense_Mutation SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr11:10778300A>C ENST00000361367.2 + 5 933 c.507A>C c.(505-507)aaA>aaC p.K169N NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 169 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TTACAGGTAAAGCTTGCATTT 0.333000 18 49 0 0 0.007413 0 0 TTK 7272 broad.mit.edu 37 6 80715587 80715587 + Silent SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr6:80715587A>G ENST00000509894.1 + 2 856 c.27A>G c.(25-27)agA>agG p.R9R TTK_ENST00000230510.3_Silent_p.R9R|TTK_ENST00000369798.2_Silent_p.R9R P33981 TTK_HUMAN TTK protein kinase 9 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TAAGTGGCAGAGAATTGACAA 0.299000 15 14 0 0 0.003163 0 0 ZNF560 147741 broad.mit.edu 37 19 9582050 9582050 + Nonsense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:9582050C>T ENST00000301480.4 - 6 456 c.243G>A c.(241-243)tgG>tgA p.W81* NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 81 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GTTTTATTGCCCAGTCTGAAA 0.289000 28 17 0 0 0.005443 0 0 MAP3K3 4215 broad.mit.edu 37 17 61769133 61769133 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:61769133C>A ENST00000361357.3 + 15 1796 c.1478C>A c.(1477-1479)aCa>aAa p.T493K MAP3K3_ENST00000584573.1_Missense_Mutation_p.T489K|MAP3K3_ENST00000577395.1_Missense_Mutation_p.T458K|MAP3K3_ENST00000579585.1_Missense_Mutation_p.T493K|MAP3K3_ENST00000361733.3_Missense_Mutation_p.T462K NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 462 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 GGTGCTCTGACAGAGAGCGTG 0.597000 40 157 1.32136e-16 1.9181e-16 0.008740 1 0 SLC12A1 6557 broad.mit.edu 37 15 48551450 48551450 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:48551450A>T ENST00000396577.3 + 17 2311 c.2096A>T c.(2095-2097)gAc>gTc p.D699V SLC12A1_ENST00000380993.3_Missense_Mutation_p.D699V|SLC12A1_ENST00000558405.1_Missense_Mutation_p.D699V NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 699 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GCTCTCCTGGACATAACTCAC 0.502000 34 89 0 0 0.004878 0 0 OR2M5 127059 broad.mit.edu 37 1 248308515 248308515 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:248308515C>A ENST00000366476.1 + 1 66 c.66C>A c.(64-66)ccC>ccA p.P22P NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATCACAGCCCCACCCACACCT 0.478000 227 141 3.87791e-117 6.81664e-117 0.003610 1 0 BOD1 91272 broad.mit.edu 37 5 173036425 173036425 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:173036425C>A ENST00000311086.4 - 3 598 c.375G>T c.(373-375)ttG>ttT p.L125F BOD1_ENST00000285908.5_Intron|BOD1_ENST00000480951.1_Intron NM_138369.2 NP_612378.1 Q96IK1 BOD1_HUMAN biorientation of chromosomes in cell division 1 125 cell division|mitosis condensed chromosome kinetochore|microtubule organizing center endometrium(1)|large_intestine(2)|lung(2)|ovary(2) 7 CTCCAGCTTCCAACATCCCTG 0.448000 23 102 1.96895e-08 2.39467e-08 0.002780 1 0 SPTBN4 57731 broad.mit.edu 37 19 41019317 41019317 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:41019317G>T ENST00000352632.3 + 14 2707 c.2621G>T c.(2620-2622)cGc>cTc p.R874L SPTBN4_ENST00000344104.3_Missense_Mutation_p.R874L|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R874L|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R874L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R874L Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 874 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton p.R874H(1) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGCTGAGGCGCCAGTGGCTG 0.667000 6 5 0.00198382 0.00219881 0.001984 1 0 TGFBRAP1 9392 broad.mit.edu 37 2 105897176 105897176 + Missense_Mutation SNP C C A rs56016004 by1000genomes TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:105897176C>A ENST00000393359.2 - 6 1552 c.1126G>T c.(1126-1128)Ggc>Tgc p.G376C TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G376C Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 376 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 TCAAGCTGGCCGCTTCTGCAA 0.542000 8 14 5.18039e-06 5.91669e-06 0.003080 1 0 CXCL1 2919 broad.mit.edu 37 4 74735447 74735447 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr4:74735447C>T ENST00000395761.3 + 2 229 c.162C>T c.(160-162)ccC>ccT p.P54P CXCL1_ENST00000509101.1_3'UTR NM_001511.3 NP_001502.1 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 54 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity lung(2) 2 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GAATTCACCCCAAGAACATCC 0.627000 31 61 0 0 0.008361 0 0 PKLR 5313 broad.mit.edu 37 1 155271116 155271116 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:155271116G>T ENST00000342741.4 - 1 109 c.71C>A c.(70-72)gCa>gAa p.A24E NM_000298.5 NP_000289.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 24 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GATGGACTTTGCTAAGTCTCT 0.537000 67 36 6.20995e-33 1.02738e-32 0.003610 1 0 GIMAP4 55303 broad.mit.edu 37 7 150269373 150269373 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:150269373G>T ENST00000255945.2 + 3 390 c.215G>T c.(214-216)cGc>cTc p.R72L GIMAP4_ENST00000461940.1_Missense_Mutation_p.R86L|GIMAP4_ENST00000494750.1_3'UTR NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 72 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTGAGAAACGCAGCAGCTCA 0.483000 14 32 6.72482e-11 8.74616e-11 0.003163 1 0 FANCA 2175 broad.mit.edu 37 16 89858414 89858414 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr16:89858414C>A ENST00000389301.3 - 13 1176 c.1146G>T c.(1144-1146)caG>caT p.Q382H FANCA_ENST00000568369.1_Missense_Mutation_p.Q382H NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 382 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AGTGAACCTCCTGCGTTTCCA 0.517000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 22 36 2.70639e-06 3.15512e-06 0.002299 1 0 MYH4 4622 broad.mit.edu 37 17 10363356 10363356 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:10363356G>A ENST00000255381.2 - 14 1439 c.1329C>T c.(1327-1329)gtC>gtT p.V443V CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 443 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGATGCGGGTGACCATCCACA 0.473000 77 162 0 0 0.003610 0 0 CKB 1152 broad.mit.edu 37 14 103988639 103988639 + Splice_Site SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:103988639C>T ENST00000348956.2 - 2 549 c.193_splice c.e2+1 p.P64_splice NM_001823.4 NP_001814.2 P12277 KCRB_HUMAN creatine kinase, brain 64 Phosphagen kinase N-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity lung(2)|prostate(1) 3 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) GTCGCGTACCCGGGTTGTCCA 0.741000 5 13 0 0 0.000602 0 0 EHBP1 23301 broad.mit.edu 37 2 63101479 63101479 + Splice_Site SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:63101479A>T ENST00000263991.5 + 11 1585 c.e11-1 EHBP1_ENST00000354487.3_Splice_Site|EHBP1_ENST00000431489.1_Splice_Site|EHBP1_ENST00000405289.1_Splice_Site|EHBP1_ENST00000405015.3_Splice_Site NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TCTTTCACTTAGATCAAATCC 0.289000 23 33 0 0 0.002780 0 0 PCSK5 5125 broad.mit.edu 37 9 78965780 78965780 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:78965780G>T ENST00000545128.1 + 35 5460 c.4922G>T c.(4921-4923)aGt>aTt p.S1641I NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 806 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGTGTGTGGAGTTACCACCTC 0.483000 25 78 5.24475e-26 8.42906e-26 0.004656 1 0 MDGA2 161357 broad.mit.edu 37 14 47566205 47566205 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:47566205G>A ENST00000426342.1 - 6 899 c.153C>T c.(151-153)tcC>tcT p.S51S MDGA2_ENST00000399232.2_Silent_p.S349S|MDGA2_ENST00000357362.3_Silent_p.S51S|MDGA2_ENST00000439988.2_Silent_p.S280S NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 280 Ig-like 1. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GAGTCCCAAAGGACCTGACCC 0.468000 30 58 0 0 0.009535 0 0 FLNB 2317 broad.mit.edu 37 3 58140628 58140628 + Missense_Mutation SNP G G T rs144963323 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:58140628G>T ENST00000295956.4 + 40 6910 c.6745G>T c.(6745-6747)Ggt>Tgt p.G2249C FLNB_ENST00000490882.1_Missense_Mutation_p.G2280C|FLNB_ENST00000419752.2_Missense_Mutation_p.G2069C|FLNB_ENST00000493452.1_Missense_Mutation_p.G2056C|FLNB_ENST00000429972.2_Missense_Mutation_p.G2238C|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.G2208C|FLNB_ENST00000358537.3_Missense_Mutation_p.G2225C NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2249 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TGGGTCGTGCGGTGTATCTTA 0.488000 22 34 5.35356e-11 7.0032e-11 0.002780 1 0 SEMG1 6406 broad.mit.edu 37 20 43837137 43837137 + Missense_Mutation SNP G G C rs147894843 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr20:43837137G>C ENST00000372781.3 + 2 1256 c.1199G>C c.(1198-1200)gGt>gCt p.G400A SEMG1_ENST00000244069.6_Missense_Mutation_p.G340A NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CCATGGCATGGTGAAAATGCA 0.438000 35 34 0 0 0.002445 0 0 SOX30 11063 broad.mit.edu 37 5 157078524 157078524 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr5:157078524G>T ENST00000265007.6 - 1 904 c.563C>A c.(562-564)gCg>gAg p.A188E SOX30_ENST00000311371.5_Missense_Mutation_p.A188E|SOX30_ENST00000519442.1_Intron NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 188 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GACCTCCTCCGCCTCCAGCTT 0.642000 77 50 3.76054e-38 6.45894e-38 0.003610 1 0 TNFSF14 8740 broad.mit.edu 37 19 6664944 6664944 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:6664944A>G ENST00000326176.9 - 5 989 c.608T>C c.(607-609)aTg>aCg p.M203T TNFSF14_ENST00000245912.3_Missense_Mutation_p.M203T|TNFSF14_ENST00000599359.1_Missense_Mutation_p.M239T NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 239 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 CCTTCACACCATGAAAGCCCC 0.582000 55 40 0 0 0.003610 0 0 MKI67 4288 broad.mit.edu 37 10 129902508 129902508 + Silent SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:129902508G>T ENST00000368654.3 - 13 7971 c.7596C>A c.(7594-7596)atC>atA p.I2532I MKI67_ENST00000368653.3_Silent_p.I2172I NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2532 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTGGGTCCAGGATCTGCTTTG 0.512000 74 107 2.08929e-35 3.53451e-35 0.003610 1 0 KHSRP 8570 broad.mit.edu 37 19 6420440 6420440 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:6420440C>A ENST00000398148.3 - 5 560 c.468G>T c.(466-468)gtG>gtT p.V156V NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 156 Gly-rich.|KH 1. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 CACTCAGGCCCACCATGCCGT 0.592000 12 10 1.5842e-08 1.9372e-08 0.001855 1 0 FAM86DP 692099 broad.mit.edu 37 3 75475685 75475685 + RNA SNP A A G rs11128433 by1000genomes TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:75475685A>G ENST00000459803.1 - 0 844 NR_024241.1 TGGTGCTCCCAGCAGGCAGCC 0.602000 3 48 0 0 0.000602 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217516 150217516 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr7:150217516G>A ENST00000313543.4 + 2 611 c.454G>A c.(454-456)Ggc>Agc p.G152S NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 152 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCGGATGTGGGCCTAAAAAG 0.502000 14 23 0 0 0.001855 0 0 FLRT2 23768 broad.mit.edu 37 14 86088584 86088584 + Silent SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr14:86088584G>C ENST00000330753.4 + 2 1493 c.726G>C c.(724-726)ctG>ctC p.L242L FLRT2_ENST00000554746.1_Silent_p.L242L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 242 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GTAATTCGCTGTCCCACCCTC 0.502000 47 61 0 0 0.002522 0 0 PSAP 5660 broad.mit.edu 37 10 73587857 73587857 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:73587857C>G ENST00000394936.3 - 6 781 c.634G>C c.(634-636)Gta>Cta p.V212L PSAP_ENST00000394934.1_Missense_Mutation_p.V212L P07602 SAP_HUMAN prosaposin 212 Saposin B-type 2. glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 TTGGTCCGTACAGCAGTCTGG 0.532000 31 57 0 0 0.002836 0 0 ZNF14 7561 broad.mit.edu 37 19 19824913 19824913 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:19824913C>A ENST00000344099.3 - 3 316 c.178G>T c.(178-180)Ggg>Tgg p.G60W NM_021030.2 NP_066358.2 P17017 ZNF14_HUMAN zinc finger protein 14 60 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) CGATTTTTCCCCTGGTTTCTG 0.363000 27 23 3.11337e-16 4.48167e-16 0.002836 1 0 SMG8 55181 broad.mit.edu 37 17 57288786 57288786 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr17:57288786G>A ENST00000543872.2 + 2 1638 c.1374G>A c.(1372-1374)gtG>gtA p.V458V SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Silent_p.V458V|SMG8_ENST00000300917.5_Silent_p.V458V|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 458 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 TGTATGAGGTGGCTATTGATG 0.433000 40 53 0 0 0.008740 0 0 PPP6R2 9701 broad.mit.edu 37 22 50832508 50832508 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr22:50832508G>A ENST00000359139.3 + 3 565 c.171G>A c.(169-171)ctG>ctA p.L57L PPP6R2_ENST00000395744.3_Silent_p.L57L|PPP6R2_ENST00000395741.3_Silent_p.L57L|PPP6R2_ENST00000216061.5_Silent_p.L57L NM_001242898.1|NM_001242899.1|NM_001242900.1|NM_014678.4 NP_001229827.1|NP_001229828.1|NP_001229829.1|NP_055493.2 O75170 PP6R2_HUMAN protein phosphatase 6, regulatory subunit 2 57 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 22 TGGAGGAGCTGGTGAGCCTCA 0.557000 22 111 0 0 0.002299 0 0 ZNF816 125893 broad.mit.edu 37 19 53459279 53459279 + Splice_Site SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:53459279C>A ENST00000357666.4 - 3 364 c.e3+1 ZNF816_ENST00000434371.2_Splice_Site|ZNF816_ENST00000391786.2_Splice_Site|ZNF816_ENST00000438970.2_Splice_Site|ZNF816_ENST00000444460.2_Splice_Site|ZNF816_ENST00000270457.4_Splice_Site|ZNF321P_ENST00000391777.3_Splice_Site|ZNF816_ENST00000535506.1_Splice_Site NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 ATATCACTTACCTGAGGAAGA 0.433000 36 71 6.90743e-12 9.12911e-12 0.003755 1 0 SERPINA3 12 broad.mit.edu 37 14 95090116 95090116 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr14:95090116T>C ENST00000553947.1 + 8 2200 c.1312T>C c.(1312-1314)Ttc>Ctc p.F438L SERPINA3_ENST00000467132.1_Missense_Mutation_p.F413L|SERPINA3_ENST00000482740.1_Missense_Mutation_p.F195L|SERPINA3_ENST00000393080.4_Missense_Mutation_p.F413L|SERPINA3_ENST00000393078.3_Missense_Mutation_p.F413L P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 413 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) GAACATCTTCTTCATGAGCAA 0.498000 4 109 0 0 0.000602 0 0 MUC17 140453 broad.mit.edu 37 7 100676675 100676675 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:100676675G>T ENST00000306151.4 + 3 2042 c.1978G>T c.(1978-1980)Gtg>Ttg p.V660L NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 660 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACACTCCTGTGACCACTTC 0.468000 106 492 9.06123e-46 1.59987e-45 0.003610 1 0 SLC4A7 9497 broad.mit.edu 37 3 27442272 27442272 + Nonsense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr3:27442272T>A ENST00000295736.5 - 16 2453 c.2383A>T c.(2383-2385)Aga>Tga p.R795* SLC4A7_ENST00000388777.4_Nonsense_Mutation_p.R345*|SLC4A7_ENST00000454389.1_Nonsense_Mutation_p.R804*|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Nonsense_Mutation_p.R791*|SLC4A7_ENST00000435667.2_Nonsense_Mutation_p.R680*|SLC4A7_ENST00000455077.1_Nonsense_Mutation_p.R676*|SLC4A7_ENST00000445684.1_Nonsense_Mutation_p.R791*|SLC4A7_ENST00000428386.1_Nonsense_Mutation_p.R671*|SLC4A7_ENST00000437179.1_Nonsense_Mutation_p.R676*|SLC4A7_ENST00000446700.1_Nonsense_Mutation_p.R787* NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 795 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GTAAGATTTCTCCAGGAAATA 0.328000 52 49 0 0 0.003610 0 0 OR2D3 120775 broad.mit.edu 37 11 6942999 6942999 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr11:6942999C>T ENST00000317834.3 + 1 795 c.767C>T c.(766-768)aCc>aTc p.T256I NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 256 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) GCTTTTTCCACCTGTGGCTCC 0.453000 5 43 0 0 0.000602 0 0 SLC7A10 56301 broad.mit.edu 37 19 33699842 33699842 + Silent SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:33699842T>G ENST00000253188.3 - 11 1673 c.1527A>C c.(1525-1527)ccA>ccC p.P509P NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 509 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) GCAGGGAGGGTGGGCAGGGGC 0.547000 5 17 0 0 0.000978 0 0 SLC44A5 204962 broad.mit.edu 37 1 75684273 75684273 + Nonsense_Mutation SNP G G T rs148196192 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:75684273G>T ENST00000370855.5 - 17 1544 c.1431C>A c.(1429-1431)tgC>tgA p.C477* SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.C477*|SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.C347* NM_152697.4 NP_689910.2 Q8NCS7 CTL5_HUMAN solute carrier family 44, member 5 477 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 CAGCAAGGGCGCACTGACCTA 0.438000 19 123 1.01871e-10 1.31559e-10 0.008871 1 0 PAX6 5080 broad.mit.edu 37 11 31823152 31823152 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr11:31823152C>A ENST00000419022.1 - 7 824 c.356G>T c.(355-357)aGa>aTa p.R119I PAX6_ENST00000379123.5_Missense_Mutation_p.R105I|PAX6_ENST00000241001.8_Missense_Mutation_p.R105I|PAX6_ENST00000379115.4_Missense_Mutation_p.R119I|PAX6_ENST00000379111.2_Missense_Mutation_p.R105I|PAX6_ENST00000379132.3_Missense_Mutation_p.R105I|PAX6_ENST00000379129.2_Missense_Mutation_p.R119I|PAX6_ENST00000379107.2_Missense_Mutation_p.R119I NM_001127612.1|NM_001258462.1|NM_001258463.1 NP_001121084.1|NP_001245391.1|NP_001245392.1 P26367 PAX6_HUMAN paired box 6 105 Paired. S -> R (in AN). blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception cytoplasm|nuclear chromatin R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2) 35 Lung SC(675;0.225) GGACAGTAATCTGTCTCGGAT 0.502000 Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation 15 52 2.23348e-06 2.60189e-06 0.004007 1 0 LRRCC1 85444 broad.mit.edu 37 8 86035739 86035739 + Missense_Mutation SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr8:86035739A>C ENST00000414626.2 + 6 1851 c.962A>C c.(961-963)aAa>aCa p.K321T LRRCC1_ENST00000360375.3_Missense_Mutation_p.K341T Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 341 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 GGAAACAGAAAAGAATGCAAT 0.323000 20 144 0 0 0.008871 0 0 CDK8 1024 broad.mit.edu 37 13 26974666 26974666 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr13:26974666A>T ENST00000381527.3 + 10 1513 c.1010A>T c.(1009-1011)gAa>gTa p.E337V CDK8_ENST00000536792.1_3'UTR|CDK8_ENST00000480323.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 337 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) TATTTCTTAGAAGACCCACTT 0.423000 47 33 0 0 0.003610 0 0 HYDIN 54768 broad.mit.edu 37 16 70972618 70972618 + Silent SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr16:70972618A>T ENST00000393567.2 - 44 7044 c.6894T>A c.(6892-6894)cgT>cgA p.R2298R NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2298 R -> G (in dbSNP:rs1774360). breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TGTTTTGGAGACGCTCCTTCT 0.537000 13 17 0 0 0.003163 0 0 FOXP1 27086 broad.mit.edu 37 3 71027060 71027060 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr3:71027060C>A ENST00000318789.4 - 15 1792 c.1267G>T c.(1267-1269)Gtc>Ttc p.V423F FOXP1_ENST00000484350.1_Missense_Mutation_p.V347F|FOXP1_ENST00000475937.1_Missense_Mutation_p.V423F|FOXP1_ENST00000491238.1_Missense_Mutation_p.V425F|FOXP1_ENST00000498215.1_Missense_Mutation_p.V423F|FOXP1_ENST00000493089.1_Missense_Mutation_p.V423F|FOXP1_ENST00000468577.1_Missense_Mutation_p.V423F NM_001244810.1|NM_001244813.1|NM_032682.5 NP_001231739.1|NP_001231742.1|NP_116071.2 Q9H334 FOXP1_HUMAN forkhead box P1 423 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) GTTGTGATGACAGAGGGGCCT 0.577000 T PAX5 ALL 23 74 2.21704e-12 2.98244e-12 0.002780 1 0 ERMARD 55780 broad.mit.edu 37 6 170169675 170169675 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr6:170169675C>G ENST00000588451.1 + 11 1204 c.691C>G c.(691-693)Cgc>Ggc p.R231G C6orf70_ENST00000418781.3_Missense_Mutation_p.R367G|C6orf70_ENST00000392095.4_Missense_Mutation_p.R241G|C6orf70_ENST00000366772.2_Missense_Mutation_p.R367G|C6orf70_ENST00000366773.3_Missense_Mutation_p.R367G Q5T6L9 CF070_HUMAN 367 integral to membrane breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1) 20 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191) GGAGGGTCCCCGCATAAGAGA 0.408000 12 6 0 0 0.001368 0 0 INMT-FAM188B 100526825 broad.mit.edu 37 7 30793497 30793497 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:30793497C>A ENST00000458257.1 + 2 316 c.302C>A c.(301-303)cCg>cAg p.P101Q INMT_ENST00000409539.1_Missense_Mutation_p.P101Q|INMT_ENST00000013222.5_Missense_Mutation_p.P102Q|INMT_ENST00000484180.1_3'UTR AAGAAGGAGCCGGGGGCCTAT 0.572000 56 93 1.39843e-22 2.16469e-22 0.003610 1 0 ARHGAP11A 9824 broad.mit.edu 37 15 32929215 32929215 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr15:32929215C>G ENST00000361627.3 + 12 2963 c.2241C>G c.(2239-2241)aaC>aaG p.N747K ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.N558K|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.N558K NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 747 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) TGGAAGGTAACTTACCGAAGT 0.383000 22 36 0 0 0.001882 0 0 IGSF8 93185 broad.mit.edu 37 1 160061724 160061724 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:160061724C>T ENST00000368086.1 - 6 1947 c.1731G>A c.(1729-1731)ctG>ctA p.L577L IGSF8_ENST00000314485.7_Silent_p.L577L Q969P0 IGSF8_HUMAN immunoglobulin superfamily, member 8 577 cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development integral to membrane protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1) 33 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) ATAGGGTGTCCAGGGCTGGGG 0.562000 29 25 0 0 0.006320 0 0 TRAV8-4 28682 broad.mit.edu 37 14 22363102 22363102 + RNA SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr14:22363102G>T ENST00000390438.2 + 0 361 CTGGTTAAAGGCATCAACGGT 0.502000 42 126 1.8453e-21 2.81782e-21 0.002522 1 0 DMBT1 1755 broad.mit.edu 37 10 124338238 124338238 + Missense_Mutation SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:124338238T>G ENST00000368909.3 + 9 748 c.642T>G c.(640-642)agT>agG p.S214R DMBT1_ENST00000368956.2_Missense_Mutation_p.S214R|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.S214R|DMBT1_ENST00000330163.4_Missense_Mutation_p.S214R|DMBT1_ENST00000344338.3_Missense_Mutation_p.S214R|DMBT1_ENST00000338354.3_Missense_Mutation_p.S214R NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 214 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTACAGAAAGTTGGCCTGTCA 0.448000 7 12 0 0 0.003080 0 0 ASXL3 80816 broad.mit.edu 37 18 31226268 31226268 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr18:31226268G>T ENST00000269197.5 + 4 306 c.306G>T c.(304-306)ttG>ttT p.L102F NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 AATCTGAATTGGATGGTACAG 0.383000 26 189 2.12542e-12 2.87631e-12 0.006320 1 0 TYRP1 7306 broad.mit.edu 37 9 12695518 12695518 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr9:12695518G>T ENST00000388918.5 + 3 518 c.389G>T c.(388-390)aGg>aTg p.R130M TYRP1_ENST00000381137.2_5'UTR NM_000550.2 NP_000541.1 P17643 TYRP1_HUMAN tyrosinase-related protein 1 130 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) CCTAAAGTCAGGAGAAATCTT 0.433000 Oculocutaneous Albinism 29 18 8.88839e-20 1.31293e-19 0.002096 1 0 RTN1 6252 broad.mit.edu 37 14 60194383 60194383 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr14:60194383G>C ENST00000267484.5 - 3 1354 c.1019C>G c.(1018-1020)cCa>cGa p.P340R NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 340 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) TGCAGCAGATGGTTCTGTCGT 0.527000 7 11 0 0 0.003080 0 0 AFF4 27125 broad.mit.edu 37 5 132232907 132232907 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:132232907C>A ENST00000265343.5 - 11 1794 c.1415G>T c.(1414-1416)tGg>tTg p.W472L AFF4_ENST00000378595.3_Missense_Mutation_p.W472L NM_014423.3 NP_055238.1 Q9UHB7 AFF4_HUMAN AF4/FMR2 family, member 4 472 transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity SEPT8/AFF4(2) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2) 43 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATCAAGTTGCCATTTGTTTGT 0.413000 29 105 3.80469e-20 5.65698e-20 0.009535 1 0 ADAMTS2 9509 broad.mit.edu 37 5 178634557 178634557 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:178634557C>A ENST00000251582.7 - 4 949 c.848G>T c.(847-849)gGg>gTg p.G283V ADAMTS2_ENST00000274609.5_Missense_Mutation_p.G283V NM_014244.4 NP_055059.2 O95450 ATS2_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 2 283 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GTGCTCCTTCCCGTGGAACTG 0.632000 45 61 1.21353e-23 1.90457e-23 0.003610 1 0 RABGGTA 5875 broad.mit.edu 37 14 24738879 24738879 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr14:24738879C>T ENST00000399409.3 - 5 932 c.449G>A c.(448-450)cGg>cAg p.R150Q RABGGTA_ENST00000216840.6_Missense_Mutation_p.R150Q|RABGGTA_ENST00000560777.1_5'UTR|RABGGTA_ENST00000559586.1_5'UTR NM_004581.5 NP_004572.3 Q92696 PGTA_HUMAN Rab geranylgeranyltransferase, alpha subunit 150 visual perception Rab geranylgeranyltransferase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6) 12 GBM - Glioblastoma multiforme(265;0.0184) GGCCACAAACCGCCGATAGTC 0.582000 11 21 0 0 0.001368 0 0 PAPPA2 60676 broad.mit.edu 37 1 176664879 176664879 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:176664879C>A ENST00000367662.3 + 7 3794 c.2630C>A c.(2629-2631)tCa>tAa p.S877* NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 877 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CCCAGGGCCTCAGGCAGCTTG 0.537000 89 52 6.09681e-45 1.06812e-44 0.003610 1 0 NAP1L2 4674 broad.mit.edu 37 X 72434052 72434052 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chrX:72434052C>A ENST00000373517.3 - 1 632 c.277G>T c.(277-279)Ggt>Tgt p.G93C NAP1L2_ENST00000536638.1_Intron NM_021963.3 NP_068798.1 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 93 nucleosome assembly chromatin assembly complex NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3) 29 Renal(35;0.156) AAAACATAACCGATAAGTCCT 0.448000 42 19 2.54354e-34 4.25807e-34 0.009718 1 0 HEBP1 50865 broad.mit.edu 37 12 13140126 13140126 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr12:13140126C>T ENST00000536942.1 - 3 508 c.358G>A c.(358-360)Gtt>Att p.V120I HEBP1_ENST00000014930.4_Missense_Mutation_p.V120I Q9NRV9 HEBP1_HUMAN heme binding protein 1 120 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TCAATCTTAACGCTTTTGTCA 0.488000 20 142 0 0 0.010504 0 0 ZNF653 115950 broad.mit.edu 37 19 11594670 11594670 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:11594670C>G ENST00000293771.5 - 9 1811 c.1675G>C c.(1675-1677)Gag>Cag p.E559Q CTC-398G3.6_ENST00000585656.1_Intron NM_138783.3 NP_620138.2 Q96CK0 ZN653_HUMAN zinc finger protein 653 559 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 17 CCACAGATCTCGCACCTGCCG 0.701000 3 7 0 0 0.001168 0 0 EHBP1 23301 broad.mit.edu 37 2 62974575 62974575 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr2:62974575G>A ENST00000263991.5 + 3 632 c.150G>A c.(148-150)agG>agA p.R50R EHBP1_ENST00000405015.3_Silent_p.R50R|EHBP1_ENST00000354487.3_Silent_p.R50R|EHBP1_ENST00000405289.1_Silent_p.R50R|EHBP1_ENST00000431489.1_Silent_p.R50R NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 50 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) GAAGCCGAAGGAAGTCTTCTA 0.299000 18 83 0 0 0.010504 0 0 DHX30 22907 broad.mit.edu 37 3 47887703 47887703 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr3:47887703G>A ENST00000446256.2 + 12 1596 c.1024G>A c.(1024-1026)Gat>Aat p.D342N DHX30_ENST00000457607.1_Missense_Mutation_p.D409N|DHX30_ENST00000348968.4_Missense_Mutation_p.D353N|DHX30_ENST00000445061.1_Missense_Mutation_p.D381N NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 381 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GCTGCAGAGTGATGACATCTT 0.542000 28 126 0 0 0.004656 0 0 SDHA 6389 broad.mit.edu 37 5 256470 256470 + Missense_Mutation SNP G G T rs3211483 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:256470G>T ENST00000264932.6 + 15 2045 c.1930G>T c.(1930-1932)Gtg>Ttg p.V644L SDHA_ENST00000510361.1_Missense_Mutation_p.V596L|SDHA_ENST00000504309.1_Missense_Mutation_p.V563L|SDHA_ENST00000507522.1_3'UTR NM_004168.2 NP_004159.2 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 644 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 40 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) ATATAGACCCGTGATCGACAA 0.428000 Familial Paragangliomas 7 101 0.00307968 0.00339516 0.003080 1 0 GP6 51206 broad.mit.edu 37 19 55543711 55543711 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:55543711C>A ENST00000310373.3 - 3 148 c.121G>T c.(121-123)Gag>Tag p.E41* CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000333884.2_Nonsense_Mutation_p.E41*|GP6_ENST00000417454.1_Nonsense_Mutation_p.E41*|CTC-550B14.7_ENST00000593060.1_RNA NM_001083899.1 NP_001077368.1 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 41 Ig-like C2-type 1. enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) ACTGGCTTCTCCAGGGGCACC 0.682000 17 14 9.16793e-09 1.11997e-08 0.004990 1 0 SIRPG 55423 broad.mit.edu 37 20 1617082 1617082 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr20:1617082G>T ENST00000381580.1 - 3 580 c.401C>A c.(400-402)aCc>aAc p.T134N SIRPG_ENST00000381583.2_Missense_Mutation_p.T167N|SIRPG_ENST00000216927.4_Missense_Mutation_p.T167N|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000303415.3_Missense_Mutation_p.T167N|SIRPG_ENST00000344103.4_Intron Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 167 Ig-like V-type. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 GGACTCACAGGTGAAACTCAC 0.542000 41 81 2.66277e-13 3.66942e-13 0.006999 1 0 TAS2R9 50835 broad.mit.edu 37 12 10962433 10962433 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr12:10962433A>G ENST00000240691.2 - 1 334 c.242T>C c.(241-243)cTa>cCa p.L81P NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 81 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 AATGCTTACTAGCACGCTATT 0.398000 52 52 0 0 0.003610 0 0 ASNS 440 broad.mit.edu 37 7 97488526 97488526 + Splice_Site SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:97488526T>G ENST00000175506.4 - 6 1200 c.673_splice c.e6+1 p.P224_splice ASNS_ENST00000394308.3_Splice_Site_p.P224_splice|ASNS_ENST00000437628.1_Splice_Site_p.P141_splice|ASNS_ENST00000455086.1_Splice_Site_p.P141_splice|ASNS_ENST00000444334.1_Splice_Site_p.P203_splice|ASNS_ENST00000422745.1_Splice_Site_p.P203_splice|ASNS_ENST00000394309.3_Splice_Site_p.P224_splice NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 224 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GTCTGCTACCTGGAAAGAGTT 0.433000 11 64 0 0 0.001855 0 0 MYOC 4653 broad.mit.edu 37 1 171621320 171621320 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:171621320G>T ENST00000037502.5 - 1 491 c.432C>A c.(430-432)aaC>aaA p.N144K NM_000261.1 NP_000252.1 Q99972 MYOC_HUMAN myocilin, trabecular meshwork inducible glucocorticoid response 144 anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2) 28 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CTCGGAGGAGGTTGCTGTAGG 0.582000 33 139 3.80469e-20 5.65698e-20 0.009535 1 0 AKAP6 9472 broad.mit.edu 37 14 33291383 33291383 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr14:33291383G>C ENST00000280979.4 + 13 4534 c.4364G>C c.(4363-4365)gGa>gCa p.G1455A AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1455 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GACTGTTTGGGAGAAGAATTA 0.363000 24 38 0 0 0.002780 0 0 SPTA1 6708 broad.mit.edu 37 1 158653173 158653173 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:158653173G>A ENST00000368148.3 - 3 558 c.378C>T c.(376-378)caC>caT p.H126H SPTA1_ENST00000368147.3_Silent_p.H126H NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 126 Missing (in Ref. 3; AAA60575). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCGTTTCTTCGTGGGCAGAAT 0.383000 80 50 0 0 0.003610 0 0 FES 2242 broad.mit.edu 37 15 91437239 91437239 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr15:91437239C>T ENST00000328850.3 + 18 2419 c.2277C>T c.(2275-2277)tcC>tcT p.S759S FES_ENST00000450438.2_Silent_p.S631S|FES_ENST00000444422.2_Silent_p.S689S|FES_ENST00000394300.3_Silent_p.S701S|FES_ENST00000414248.2_Silent_p.S631S|FES_ENST00000394302.1_Silent_p.S618S NM_002005.3 NP_001996.1 P07332 FES_HUMAN feline sarcoma oncogene 759 Protein kinase. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TGGGGGCCTCCCCCTATCCCA 0.607000 84 136 0 0 0.003610 0 0 MUC17 140453 broad.mit.edu 37 7 100677571 100677571 + Silent SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:100677571T>A ENST00000306151.4 + 3 2938 c.2874T>A c.(2872-2874)tcT>tcA p.S958S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 958 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TGACCACTTCTACTGAAGCCA 0.502000 42 518 0 0 0.003610 0 0 LEFTY1 10637 broad.mit.edu 37 1 226074602 226074602 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:226074602G>A ENST00000272134.5 - 4 1005 c.926C>T c.(925-927)cCg>cTg p.P309L RP4-559A3.7_ENST00000432920.2_3'UTR NM_020997.3 NP_066277.1 O75610 LFTY1_HUMAN left-right determination factor 1 309 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 10 Breast(184;0.197) CCCCAGAAACGGCCACTTGAA 0.667000 4 35 0 0 0.009096 0 0 CTBP1-AS2 92070 broad.mit.edu 37 4 1244578 1244578 + RNA SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr4:1244578A>G ENST00000581398.1 + 0 532 CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000357591.2_RNA NR_033339.1 TAATGGAGAGACTTCTGGGGA 0.562000 23 30 0 0 0.002299 0 0 FAM3C 10447 broad.mit.edu 37 7 120991242 120991242 + Silent SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:120991242G>C ENST00000359943.3 - 9 762 c.549C>G c.(547-549)gtC>gtG p.V183V NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 183 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) CACCACAGAAGACCCAGTTGT 0.428000 24 60 0 0 0.002780 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538535 27538535 + RNA SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:27538535G>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CCTCCGTAGTGGGTTCTGGAG 0.498000 90 131 9.24773e-40 1.60768e-39 0.003610 1 0 TNFSF14 8740 broad.mit.edu 37 19 6664944 6664944 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:6664944A>G ENST00000326176.9 - 5 989 c.608T>C c.(607-609)aTg>aCg p.M203T TNFSF14_ENST00000599359.1_Missense_Mutation_p.M239T|TNFSF14_ENST00000245912.3_Missense_Mutation_p.M203T NM_003807.3|NM_172014.2 NP_003798.2|NP_742011.2 O43557 TNF14_HUMAN tumor necrosis factor (ligand) superfamily, member 14 239 cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 CCTTCACACCATGAAAGCCCC 0.582000 55 40 0 0 0.003610 0 0 TLL1 7092 broad.mit.edu 37 4 166935588 166935588 + Splice_Site SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr4:166935588G>T ENST00000061240.2 + 8 1565 c.917_splice c.e8-1 p.R306_splice TLL1_ENST00000507499.1_Splice_Site_p.R306_splice|TLL1_ENST00000513213.1_Splice_Site_p.R306_splice NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 306 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TTTTTTTCAGGGGGATGTTTC 0.413000 29 116 2.2171e-23 3.45562e-23 0.009535 1 0 SFTPA1 653509 broad.mit.edu 37 10 81372125 81372125 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:81372125G>T ENST00000398636.3 + 4 368 c.230G>T c.(229-231)gGa>gTa p.G77V SFTPA1_ENST00000428376.2_Missense_Mutation_p.G77V|SFTPA1_ENST00000372313.5_Missense_Mutation_p.G18V|SFTPA1_ENST00000372308.3_Missense_Mutation_p.G77V|SFTPA1_ENST00000419470.2_Missense_Mutation_p.G92V NM_001164644.1|NM_001164646.1|NM_005411.4 NP_001158116.1|NP_001158118.1|NP_005402.3 Q8IWL2 SFTA1_HUMAN surfactant protein A1 77 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GGGCTGCCTGGAGCCCCTGGT 0.612000 71 130 8.13855e-26 1.30448e-25 0.003610 1 0 RTN1 6252 broad.mit.edu 37 14 60194384 60194384 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr14:60194384G>T ENST00000267484.5 - 3 1353 c.1018C>A c.(1018-1020)Cca>Aca p.P340T NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 340 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GCAGCAGATGGTTCTGTCGTC 0.527000 7 11 8.12818e-05 9.09391e-05 0.001984 1 0 SNCB 6620 broad.mit.edu 37 5 176056582 176056582 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:176056582C>A ENST00000310112.3 - 3 324 c.74G>T c.(73-75)gGg>gTg p.G25V SNCB_ENST00000506696.1_Missense_Mutation_p.G25V|SNCB_ENST00000510387.1_Missense_Mutation_p.G25V|SNCB_ENST00000393693.2_Missense_Mutation_p.G25V NM_001001502.1 NP_001001502.1 Q16143 SYUB_HUMAN synuclein, beta 25 4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4). calcium ion binding|phospholipase inhibitor activity breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCGGTGACCCCCTGCTTGGT 0.672000 7 14 0.00448238 0.00491756 0.004482 1 0 GABRA6 2559 broad.mit.edu 37 5 161116287 161116287 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:161116287G>T ENST00000523217.1 + 5 686 c.444G>T c.(442-444)atG>atT p.M148I GABRA6_ENST00000274545.5_Missense_Mutation_p.M158I|RP11-348M17.2_ENST00000521984.1_RNA NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 158 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTGTCCCATGAGGCTGGTTA 0.408000 TCGA Ovarian(5;0.080) 40 39 2.35958e-20 3.55511e-20 0.009718 1 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 12 22 1.49906e-05 1.68551e-05 0.002450 1 0 HIST1H3B 8358 broad.mit.edu 37 6 26032019 26032019 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr6:26032019C>T ENST00000244661.2 - 1 269 c.270G>A c.(268-270)gtG>gtA p.V90V NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 90 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 GCAGCGCCATCACCGCAGAGC 0.557000 21 70 0 0 0.001882 0 0 TDRD3 81550 broad.mit.edu 37 13 61103023 61103023 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr13:61103023A>G ENST00000196169.3 + 11 2173 c.1385A>G c.(1384-1386)aAt>aGt p.N462S TDRD3_ENST00000377894.2_Missense_Mutation_p.N462S|TDRD3_ENST00000377881.2_Missense_Mutation_p.N462S|TDRD3_ENST00000535286.1_Missense_Mutation_p.N555S NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 462 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) CAAACAATAAATAATGAAGCT 0.284000 34 19 0 0 0.002836 0 0 MAP3K3 4215 broad.mit.edu 37 17 61769133 61769133 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr17:61769133C>A ENST00000361357.3 + 15 1796 c.1478C>A c.(1477-1479)aCa>aAa p.T493K MAP3K3_ENST00000579585.1_Missense_Mutation_p.T493K|MAP3K3_ENST00000577395.1_Missense_Mutation_p.T458K|MAP3K3_ENST00000361733.3_Missense_Mutation_p.T462K|MAP3K3_ENST00000584573.1_Missense_Mutation_p.T489K NM_203351.1 NP_976226.1 Q99759 M3K3_HUMAN mitogen-activated protein kinase kinase kinase 3 462 Protein kinase. MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation cytosol ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 28 GGTGCTCTGACAGAGAGCGTG 0.597000 40 157 1.32136e-16 1.91427e-16 0.008740 1 0 DHX57 90957 broad.mit.edu 37 2 39088534 39088534 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr2:39088534C>A ENST00000295373.6 - 5 1144 c.1018G>T c.(1018-1020)Gat>Tat p.D340Y DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 340 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) AGATGAGAATCATCTACACTT 0.343000 14 28 9.31168e-06 1.05222e-05 0.001855 1 0 DHX30 22907 broad.mit.edu 37 3 47887871 47887871 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr3:47887871G>A ENST00000446256.2 + 12 1764 c.1192G>A c.(1192-1194)Gac>Aac p.D398N DHX30_ENST00000457607.1_Missense_Mutation_p.D465N|DHX30_ENST00000348968.4_Missense_Mutation_p.D409N|DHX30_ENST00000445061.1_Missense_Mutation_p.D437N NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 437 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GCTACCTGTGGACCCACATCG 0.657000 13 60 0 0 0.002450 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72489080 72489080 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:72489080G>C ENST00000373208.1 + 5 901 c.901G>C c.(901-903)Ggg>Cgg p.G301R ADAMTS14_ENST00000373207.1_Missense_Mutation_p.G301R NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 301 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TGAGTCCCTGGGGGTTCATAT 0.488000 26 52 0 0 0.008361 0 0 ZNF521 25925 broad.mit.edu 37 18 22804959 22804959 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr18:22804959T>C ENST00000361524.3 - 4 3071 c.2923A>G c.(2923-2925)Act>Gct p.T975A ZNF521_ENST00000538137.2_Missense_Mutation_p.T975A|ZNF521_ENST00000584787.1_Missense_Mutation_p.T755A NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 975 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TTGTGTTCAGTAAGAGTTAAA 0.483000 T PAX5 ALL 41 78 0 0 0.002852 0 0 COPS5 10987 broad.mit.edu 37 8 67974210 67974210 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr8:67974210T>C ENST00000357849.4 - 1 342 c.22A>G c.(22-24)Atg>Gtg p.M8V COPS5_ENST00000517736.1_Intron|COPS5_ENST00000519963.1_5'UTR NM_006837.2 NP_006828.2 Q92905 CSN5_HUMAN COP9 signalosome subunit 5 8 cullin deneddylation|transcription from RNA polymerase II promoter eukaryotic translation initiation factor 3 complex|signalosome metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3) 14 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153) TTCTGGGCCATACCGCTCCCG 0.537000 45 164 0 0 0.002852 0 0 ROBO1 6091 broad.mit.edu 37 3 78685076 78685076 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr3:78685076C>A ENST00000436010.2 - 21 4100 c.3103G>T c.(3103-3105)Gcc>Tcc p.A1035S ROBO1_ENST00000495273.1_Missense_Mutation_p.A1029S|ROBO1_ENST00000467549.1_Missense_Mutation_p.A974S|ROBO1_ENST00000464233.1_Missense_Mutation_p.A1074S Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1074 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TGAGTGGTGGCGTAAGGAGTA 0.488000 18 69 3.62473e-10 4.55105e-10 0.001882 1 0 UMODL1 89766 broad.mit.edu 37 21 43491428 43491428 + Translation_Start_Site SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr21:43491428G>A ENST00000408989.2 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I UMODL1_ENST00000400424.1_Intron|UMODL1_ENST00000408910.2_Start_Codon_SNP_p.M1I|UMODL1_ENST00000400427.1_Intron NM_173568.3 NP_775839.3 Q5DID0 UROL1_HUMAN uromodulin-like 1 1 cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 47 GCCGGACGATGCTCAGGACCT 0.662000 6 10 0 0 0.001168 0 0 RFX6 222546 broad.mit.edu 37 6 117248302 117248302 + Silent SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr6:117248302A>C ENST00000332958.2 + 17 2014 c.1998A>C c.(1996-1998)ccA>ccC p.P666P NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 666 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GGAGGCCCCCAAGTGTGGGCC 0.522000 58 42 0 0 0.003610 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51630302 51630302 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:51630302G>T ENST00000440804.3 + 4 831 c.764G>T c.(763-765)gGa>gTa p.G255V SIGLEC9_ENST00000250360.3_Missense_Mutation_p.G255V NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 255 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) ACAGTCTTGGGAAATGGCTCA 0.507000 22 70 5.26018e-13 7.20485e-13 0.001882 1 0 FLG 2312 broad.mit.edu 37 1 152280910 152280910 + Missense_Mutation SNP C C T rs146106776 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:152280910C>T ENST00000368799.1 - 3 6487 c.6452G>A c.(6451-6453)gGg>gAg p.G2151E FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2151 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) TTGGTGGGACCCCTGTCTTCC 0.582000 Ichthyosis 293 186 0 0 0.003610 0 0 KDM5B 10765 broad.mit.edu 37 1 202733256 202733256 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:202733256T>C ENST00000367265.3 - 6 1893 c.729A>G c.(727-729)atA>atG p.I243M KDM5B_ENST00000367264.2_Missense_Mutation_p.I279M NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 243 negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 CCTCGGGTTCTATTTTAATAT 0.333000 10 55 0 0 0.000978 0 0 DENND4A 10260 broad.mit.edu 37 15 65983463 65983463 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr15:65983463C>A ENST00000443035.3 - 23 3681 c.3466G>T c.(3466-3468)Gat>Tat p.D1156Y DENND4A_ENST00000431932.2_Missense_Mutation_p.D1113Y NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1113 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TCCACTTTATCTGCCAAATAG 0.363000 9 22 2.74318e-10 3.48291e-10 0.006214 1 0 XDH 7498 broad.mit.edu 37 2 31602826 31602826 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr2:31602826G>A ENST00000379416.3 - 13 1197 c.1149C>T c.(1147-1149)gtC>gtT p.V383V NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 383 FAD-binding PCMH-type. purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGTCCATCTGGACAGTTCTCC 0.552000 36 51 0 0 0.006230 0 0 GTF3C4 9329 broad.mit.edu 37 9 135553983 135553983 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr9:135553983G>A ENST00000372146.4 + 2 1541 c.977G>A c.(976-978)cGa>cAa p.R326Q GTF3C4_ENST00000483873.2_Intron NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 326 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) CACAATAATCGAAAAATGAGT 0.413000 98 34 0 0 0.003610 0 0 KRTAP19-5 337972 broad.mit.edu 37 21 31874354 31874354 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr21:31874354C>A ENST00000334151.2 - 1 81 c.55G>T c.(55-57)Gat>Tat p.D19Y NM_181611.1 NP_853642.1 Q3LI72 KR195_HUMAN keratin associated protein 19-5 19 intermediate filament protein binding endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1) 12 CCCAGGTCATCGAAGCCTCCG 0.587000 47 69 1.61863e-15 2.30069e-15 0.003610 1 0 KRT37 8688 broad.mit.edu 37 17 39579093 39579093 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr17:39579093G>T ENST00000225550.3 - 3 668 c.669C>A c.(667-669)gaC>gaA p.D223E AC003958.2_ENST00000432258.1_RNA NM_003770.4 NP_003761.3 O76014 KRT37_HUMAN keratin 37 223 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) GGGCCTCCAGGTCGGCCTTGG 0.667000 37 30 4.00102e-26 6.50525e-26 0.006230 1 0 KIFAP3 22920 broad.mit.edu 37 1 170015993 170015993 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:170015993C>A ENST00000367765.1 - 3 1560 c.59G>T c.(58-60)aGt>aTt p.S20I KIFAP3_ENST00000367767.1_Missense_Mutation_p.S16I|KIFAP3_ENST00000361580.2_Missense_Mutation_p.S60I|KIFAP3_ENST00000538366.1_5'UTR|KIFAP3_ENST00000490550.1_5'UTR NM_001204517.1 NP_001191446.1 Q92845 KIFA3_HUMAN kinesin-associated protein 3 60 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2) 35 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGCATTGAGACTCTTAAGTCG 0.313000 42 26 6.1244e-12 8.19003e-12 0.007835 1 0 SLITRK1 114798 broad.mit.edu 37 13 84454777 84454777 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr13:84454777G>A ENST00000377084.2 - 1 1751 c.866C>T c.(865-867)cCt>cTt p.P289L NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 289 integral to membrane p.P289H(1)|p.P289L(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGTCTTGAAAGGAGTTGGCAG 0.537000 12 15 0 0 0.000978 0 0 CRB2 286204 broad.mit.edu 37 9 126125191 126125191 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr9:126125191G>A ENST00000373631.3 + 2 143 c.142G>A c.(142-144)Gct>Act p.A48T CRB2_ENST00000359999.3_Missense_Mutation_p.A48T NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 48 extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 AGACCCGTGCGCTCCAGGGAC 0.647000 92 21 0 0 0.003610 0 0 RHOH 399 broad.mit.edu 37 4 40245368 40245368 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr4:40245368G>T ENST00000381799.4 + 3 1086 c.362G>T c.(361-363)cGg>cTg p.R121L RHOH_ENST00000505618.1_Missense_Mutation_p.R121L NM_001278363.1|NM_001278365.1|NM_004310.3 NP_001265292.1|NP_001265294.1|NP_004301.1 Q15669 RHOH_HUMAN ras homolog family member H 121 negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation cytosol|mitochondrion|plasma membrane GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding kidney(1)|large_intestine(3)|lung(7)|ovary(1) 12 ACTGACCAGCGGGAGATGGGG 0.567000 8 23 5.18039e-06 5.88326e-06 0.003080 1 0 TECRL 253017 broad.mit.edu 37 4 65188467 65188467 + Silent SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr4:65188467T>A ENST00000381210.3 - 4 485 c.375A>T c.(373-375)gcA>gcT p.A125A TECRL_ENST00000507440.1_Silent_p.A125A NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 125 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 TGGAGGAAGCTGCAATACTTT 0.318000 7 25 0 0 0.003080 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 3 22 0 0 0.004672 0 0 HOXA13 3209 broad.mit.edu 37 7 27238817 27238817 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:27238817C>A ENST00000222753.4 - 1 908 c.880G>T c.(880-882)Gag>Tag p.E294* HOTTIP_ENST00000421733.1_RNA NM_000522.4 NP_000513.2 P31271 HXA13_HUMAN homeobox A13 294 skeletal system development nucleus sequence-specific DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 6 TGCGCCTGCTCTTTGGGGCAG 0.637000 T NUP98 AML 15 31 4.7546e-09 5.87181e-09 0.004007 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68274527 68274527 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr14:68274527C>A ENST00000347230.4 - 5 612 c.474G>T c.(472-474)tgG>tgT p.W158C ZFYVE26_ENST00000555452.1_Missense_Mutation_p.W158C NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 158 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TCAGGAGATCCCAGAGCACAG 0.602000 69 62 5.80444e-35 9.78957e-35 0.003610 1 0 REG3G 130120 broad.mit.edu 37 2 79255050 79255050 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr2:79255050A>G ENST00000272324.5 + 5 635 c.451A>G c.(451-453)Aga>Gga p.R151G REG3G_ENST00000409471.1_Missense_Mutation_p.R105G|REG3G_ENST00000393897.2_Missense_Mutation_p.R151G NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 151 C-type lectin. acute-phase response extracellular region sugar binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 GAGCCTGTCAAGAAGCACAGG 0.478000 37 47 0 0 0.006999 0 0 ARNT2 9915 broad.mit.edu 37 15 80847406 80847406 + Splice_Site SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr15:80847406G>C ENST00000533983.1 + 12 1396 c.1056_splice c.e12-1 p.D353_splice RP11-379K22.2_ENST00000558208.1_RNA|ARNT2_ENST00000527771.1_Splice_Site_p.D353_splice|ARNT2_ENST00000303329.4_Splice_Site_p.D364_splice Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 364 PAS 2. central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) TTTTATTTAGGATCTTCTGGG 0.398000 33 97 0 0 0.002836 0 0 PRDM9 56979 broad.mit.edu 37 5 23522875 23522875 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:23522875C>A ENST00000296682.3 + 8 945 c.763C>A c.(763-765)Cag>Aag p.Q255K NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 255 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AGGCATCCCTCAGGCTGGGCT 0.572000 HNSCC(3;0.000094) 19 31 2.37509e-13 3.29307e-13 0.010504 1 0 RBFOX1 54715 broad.mit.edu 37 16 7383079 7383079 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr16:7383079G>T ENST00000340209.4 + 1 329 c.32G>T c.(31-33)gGa>gTa p.G11V RBFOX1_ENST00000547372.1_Intron|RBFOX1_ENST00000552089.1_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000311745.5_Missense_Mutation_p.G26V|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000436368.2_Missense_Mutation_p.G26V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.G26V|RBFOX1_ENST00000535565.2_Intron Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 0 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 TACCTTCCTGGACTGATTCAG 0.453000 39 55 3.33393e-15 4.70918e-15 0.004878 1 0 SLC29A3 55315 broad.mit.edu 37 10 73082704 73082704 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:73082704C>T ENST00000373189.5 + 2 245 c.193C>T c.(193-195)Cta>Tta p.L65L NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 65 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 CATTGGCAGTCTACTGCCATG 0.597000 5 78 0 0 0.001168 0 0 SMAD4 4089 broad.mit.edu 37 18 48581339 48581339 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr18:48581339C>T ENST00000342988.3 + 5 1181 c.643C>T c.(643-645)Ccc>Tcc p.P215S RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.P215S|SMAD4_ENST00000398417.2_Missense_Mutation_p.P215S NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 215 BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.?(3) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) TGCCAACTTTCCCAACATTCC 0.463000 49 37 0 0 0.003610 0 0 ZNF43 7594 broad.mit.edu 37 19 22018896 22018896 + Translation_Start_Site SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:22018896G>T ENST00000354959.4 - 0 114 ZNF43_ENST00000594012.1_Intron|ZNF43_ENST00000598288.1_Intron|ZNF43_ENST00000598381.1_Intron|ZNF43_ENST00000595461.1_Intron NM_003423.3 NP_003414.2 P17038 ZNF43_HUMAN zinc finger protein 43 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) AATACCCGCAGGTCACAGAGC 0.622000 13 38 1.61879e-10 2.07868e-10 0.001368 1 0 FAM208B 54906 broad.mit.edu 37 10 5790473 5790473 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:5790473G>T ENST00000328090.5 + 15 5714 c.5089G>T c.(5089-5091)Ggt>Tgt p.G1697C NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 1697 GCTTAAGAATGGTGAGCCTGA 0.458000 25 37 7.87624e-14 1.09878e-13 0.002780 1 0 GCM1 8521 broad.mit.edu 37 6 52993452 52993452 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr6:52993452T>A ENST00000259803.7 - 6 1074 c.863A>T c.(862-864)tAc>tTc p.Y288F NM_003643.3 NP_003634.2 Q9NP62 GCM1_HUMAN glial cells missing homolog 1 (Drosophila) 288 transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1) 24 Lung NSC(77;0.0755) ATGATCAGAGTAGACTCCGGA 0.473000 21 36 0 0 0.010504 0 0 FAT2 2196 broad.mit.edu 37 5 150911504 150911504 + Missense_Mutation SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:150911504A>C ENST00000261800.5 - 13 9467 c.9455T>G c.(9454-9456)cTg>cGg p.L3152R NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3152 Cadherin 28. 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) TGAATCCGGCAGAGAGTAAAC 0.642000 16 50 0 0 0.004990 0 0 CNGA3 1261 broad.mit.edu 37 2 99012950 99012950 + Silent SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr2:99012950G>T ENST00000393504.1 + 8 1734 c.1317G>T c.(1315-1317)cgG>cgT p.R439R CNGA3_ENST00000409937.1_Silent_p.R443R|CNGA3_ENST00000272602.2_Silent_p.R439R|CNGA3_ENST00000436404.2_Silent_p.R421R NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 439 R -> W (in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; coexpression of the CNGB3 subunit compensate completely for the slightly higher apparent cGMP sensitivity of homomers; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature). signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GGGTTATCCGGTGGTTTGACT 0.547000 16 32 1.3612e-06 1.60225e-06 0.003163 1 0 C14orf159 80017 broad.mit.edu 37 14 91671070 91671070 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr14:91671070G>A ENST00000518868.1 + 15 2155 c.1465G>A c.(1465-1467)Gag>Aag p.E489K C14orf159_ENST00000256324.10_Missense_Mutation_p.E489K|C14orf159_ENST00000521077.2_Intron|C14orf159_ENST00000520328.1_Intron|C14orf159_ENST00000428926.2_Missense_Mutation_p.E484K|C14orf159_ENST00000412671.2_Missense_Mutation_p.E489K|C14orf159_ENST00000523816.1_Missense_Mutation_p.E484K|C14orf159_ENST00000523771.1_Missense_Mutation_p.E484K|C14orf159_ENST00000522322.1_Missense_Mutation_p.E484K|C14orf159_ENST00000525393.2_Missense_Mutation_p.E360K Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 484 mitochondrion NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) TGGAGGCAACGAGCTTGGGAT 0.602000 5 11 0 0 0.000602 0 0 PCDHA10 56139 broad.mit.edu 37 5 140237891 140237891 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:140237891G>A ENST00000307360.5 + 1 2258 c.2258G>A c.(2257-2259)cGg>cAg p.R753Q PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAGCAGAGGCGGCAGAGGGTG 0.672000 14 12 0 0 0.002450 0 0 PAK1 5058 broad.mit.edu 37 11 77054934 77054934 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr11:77054934C>A ENST00000356341.3 - 10 1459 c.928G>T c.(928-930)Gag>Tag p.E310* PAK1_ENST00000278568.4_Nonsense_Mutation_p.E310*|PAK1_ENST00000530617.1_Nonsense_Mutation_p.E310*|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000528203.1_Nonsense_Mutation_p.E212* NM_002576.4 NP_002567.3 Q13153 PAK1_HUMAN p21 protein (Cdc42/Rac)-activated kinase 1 310 Protein kinase. apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway cytosol|focal adhesion|Golgi apparatus ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1) 29 all_cancers(14;1.75e-18) ATAATCAGCTCTTTCTTGGGC 0.428000 18 76 1.2644e-06 1.4961e-06 0.010504 1 0 SOX6 55553 broad.mit.edu 37 11 16010775 16010775 + Splice_Site SNP T T G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr11:16010775T>G ENST00000352083.6 - 14 1811 c.1732_splice c.e14-1 p.G578_splice SOX6_ENST00000528252.1_Splice_Site_p.G551_splice|SOX6_ENST00000528429.1_Splice_Site_p.G578_splice|SOX6_ENST00000316399.6_Intron|SOX6_ENST00000396356.3_Intron|SOX6_ENST00000527619.1_Splice_Site_p.G554_splice P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 578 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 TTGCTTTACTTCCTGTAATGT 0.502000 OREG0020800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 19 0 0 0.007413 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454778 84454778 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr13:84454778G>T ENST00000377084.2 - 1 1750 c.865C>A c.(865-867)Cct>Act p.P289T NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 289 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GTCTTGAAAGGAGTTGGCAGG 0.542000 12 15 0.000978159 0.00108898 0.000978 1 0 FAM47B 170062 broad.mit.edu 37 X 34962130 34962130 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chrX:34962130G>T ENST00000329357.5 + 1 1218 c.1182G>T c.(1180-1182)atG>atT p.M394I NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 394 p.M394I(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 AGAGTCGGATGCCCCATCTCC 0.582000 24 5 1.1804e-14 1.65695e-14 0.003954 1 0 DPY19L2 283417 broad.mit.edu 37 12 64041052 64041052 + Missense_Mutation SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr12:64041052G>C ENST00000324472.4 - 5 865 c.682C>G c.(682-684)Cct>Gct p.P228A RP11-415I12.3_ENST00000509615.2_RNA NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 228 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TCATTAAGAGGTTCTATTCTG 0.318000 19 39 0 0 0.010504 0 0 OR52E8 390079 broad.mit.edu 37 11 5878253 5878253 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr11:5878253A>G ENST00000537935.1 - 1 711 c.680T>C c.(679-681)cTg>cCg p.L227P TRIM5_ENST00000380027.1_Intron NM_001005168.1 NP_001005168.1 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, member 8 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACAGCATACAGGATCCTGAC 0.453000 4 37 0 0 0.009096 0 0 SDHAP1 255812 broad.mit.edu 37 3 195690271 195690271 + RNA SNP T T A rs115852167 by1000genomes TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr3:195690271T>A ENST00000427841.1 - 0 2224 NR_003264.2 TTGTCGATTATGGGTCTATAT 0.403000 11 36 0 0 0.006122 0 0 ZNF442 79973 broad.mit.edu 37 19 12461745 12461745 + Silent SNP A A G rs117398535 byFrequency TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:12461745A>G ENST00000242804.4 - 6 1236 c.654T>C c.(652-654)ttT>ttC p.F218F ZNF442_ENST00000438182.1_Silent_p.F149F NM_030824.2 NP_110451.1 Q9H7R0 ZN442_HUMAN zinc finger protein 442 218 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 31 TAGGCCAAAAAAAGGCTTTCC 0.403000 5 107 0 0 0.000602 0 0 MAGI3 260425 broad.mit.edu 37 1 114189171 114189171 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:114189171A>G ENST00000369615.1 + 12 2124 c.2062A>G c.(2062-2064)Atg>Gtg p.M688V MAGI3_ENST00000369611.4_Missense_Mutation_p.M688V|MAGI3_ENST00000307546.9_Missense_Mutation_p.M688V|MAGI3_ENST00000369617.4_Missense_Mutation_p.M713V NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 713 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTCAGCCTATGCCTTTTCC 0.373000 34 53 0 0 0.007835 0 0 CBFA2T3 863 broad.mit.edu 37 16 88967957 88967957 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr16:88967957C>T ENST00000268679.4 - 2 655 c.259G>A c.(259-261)Gca>Aca p.A87T CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.A26T|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.A26T|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.A87T NM_005187.5 NP_005178.4 O75081 MTG16_HUMAN core-binding factor, runt domain, alpha subunit 2; translocated to, 3 87 Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0275) CCCTGGGATGCGGCAGGCGGT 0.697000 T RUNX1 AML 12 19 0 0 0.001855 0 0 PCNXL2 80003 broad.mit.edu 37 1 233388166 233388166 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:233388166C>A ENST00000258229.8 - 7 2296 c.2062G>T c.(2062-2064)Ggg>Tgg p.G688W PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 688 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTTTCAGGCCCACTGATGACT 0.388000 16 81 1.99824e-07 2.38943e-07 0.004990 1 0 HK3 3101 broad.mit.edu 37 5 176309050 176309050 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:176309050A>T ENST00000292432.5 - 16 2223 c.2132T>A c.(2131-2133)aTc>aAc p.I711N NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 711 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTCCATGTTGATGCACATGCG 0.627000 36 35 0 0 0.003271 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52941190 52941190 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:52941190T>A ENST00000371544.3 - 13 2303 c.2041A>T c.(2041-2043)Agg>Tgg p.R681W ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R681W|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 681 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 GCAACATTCCTCTTGACTGAA 0.403000 8 16 0 0 0.004482 0 0 EIF4B 1975 broad.mit.edu 37 12 53427616 53427616 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr12:53427616C>G ENST00000262056.9 + 9 1332 c.1006C>G c.(1006-1008)Cta>Gta p.L336V EIF4B_ENST00000416762.3_Missense_Mutation_p.L297V|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000420463.3_Missense_Mutation_p.L336V NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 336 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CAAACTGAATCTAAAGCCTCG 0.458000 13 40 0 0 0.001855 0 0 MYO1G 64005 broad.mit.edu 37 7 45010484 45010484 + Nonsense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:45010484T>A ENST00000258787.7 - 8 1157 c.1021A>T c.(1021-1023)Aag>Tag p.K341* NM_033054.2 NP_149043.2 B0I1T2 MYO1G_HUMAN myosin IG 341 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4) 28 GTGTGGCCCTTCTCTATGAGT 0.662000 12 28 0 0 0.001855 0 0 MED27 9442 broad.mit.edu 37 9 134738450 134738450 + Splice_Site SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr9:134738450C>A ENST00000292035.5 - 7 864 c.801_splice c.e7+1 p.M267_splice MED27_ENST00000372184.3_Splice_Site_p.M231_splice|MED27_ENST00000357028.2_Splice_Site_p.M193_splice NM_004269.3 NP_004260.2 Q6P2C8 MED27_HUMAN mediator complex subunit 27 267 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter cytoplasm|nucleolus|transcription factor complex protein binding|transcription coactivator activity breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 18 Myeloproliferative disorder(178;0.206) OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000193) AGCCACTTACCATGAAGGATC 0.537000 24 8 4.72057e-08 5.67473e-08 0.003954 1 0 FGF8 2253 broad.mit.edu 37 10 103530295 103530295 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:103530295C>T ENST00000347978.2 - 5 608 c.439G>A c.(439-441)Gag>Aag p.E147K FGF8_ENST00000344255.3_Missense_Mutation_p.E165K|FGF8_ENST00000485728.1_5'UTR|FGF8_ENST00000346714.3_Missense_Mutation_p.E136K|FGF8_ENST00000320185.2_Missense_Mutation_p.E176K NM_006119.4 NP_006110.1 P55075 FGF8_HUMAN fibroblast growth factor 8 (androgen-induced) 165 bone development|dopaminergic neuron differentiation|fibroblast growth factor receptor signaling pathway|gastrulation|gonad development|insulin receptor signaling pathway|mesonephros development|metanephros development|negative regulation of cardiac muscle tissue development|neuroepithelial cell differentiation|odontogenesis|positive regulation of cell division|positive regulation of cell proliferation extracellular region|extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(2) 5 Colorectal(252;0.122) Epithelial(162;3.94e-09)|all cancers(201;2.13e-07) TACCAGCCCTCGTACTTGGCA 0.627000 15 28 0 0 0.004990 0 0 PTCHD3P1 387647 broad.mit.edu 37 10 29710692 29710692 + RNA SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:29710692G>T ENST00000427063.2 + 0 1416 PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA NR_003930.1 CAGGTGTACAGGAGTGGGTTG 0.587000 4 4 0.00909568 0.00988281 0.009096 1 0 SIGLEC14 100049587 broad.mit.edu 37 19 52146834 52146834 + Silent SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:52146834A>C ENST00000360844.6 - 6 1145 c.1104T>G c.(1102-1104)gcT>gcG p.A368A SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron NM_001098612.1 NP_001092082.1 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 368 cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) GGAGGAAGCCAGCCCCCATGA 0.597000 26 40 0 0 0.004656 0 0 ASPM 259266 broad.mit.edu 37 1 197101446 197101446 + Missense_Mutation SNP T T C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:197101446T>C ENST00000367409.4 - 7 2712 c.2456A>G c.(2455-2457)tAc>tGc p.Y819C ASPM_ENST00000294732.7_Missense_Mutation_p.Y819C|ASPM_ENST00000367408.1_Missense_Mutation_p.Y69C NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 819 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CAAAGGATTGTAGGACAACAG 0.308000 22 45 0 0 0.005443 0 0 GDF6 392255 broad.mit.edu 37 8 97157010 97157010 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr8:97157010G>A ENST00000287020.5 - 2 1248 c.1149C>T c.(1147-1149)tgC>tgT p.C383C NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 383 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 27 Breast(36;2.67e-05) ATACACCCTCGCAGTGATAGG 0.637000 8 27 0 0 0.004482 0 0 DNAH5 1767 broad.mit.edu 37 5 13864539 13864539 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:13864539C>A ENST00000265104.4 - 28 4667 c.4563G>T c.(4561-4563)gaG>gaT p.E1521D CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1521 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GAAGAGGTGCCTCCATGATAT 0.408000 Kartagener syndrome 27 33 2.79863e-10 3.53347e-10 0.004656 1 0 OR4C16 219428 broad.mit.edu 37 11 55340174 55340174 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr11:55340174T>A ENST00000314634.3 + 1 571 c.571T>A c.(571-573)Tat>Aat p.Y191N NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) TTCAGAAACCTATGTGGTTAA 0.438000 42 50 0 0 0.003610 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 3 31 0 0 0.004672 0 0 HPSE2 60495 broad.mit.edu 37 10 100481488 100481488 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:100481488C>A ENST00000370552.3 - 5 941 c.882G>T c.(880-882)cgG>cgT p.R294R HPSE2_ENST00000404542.1_Silent_p.R182R|HPSE2_ENST00000370546.1_Silent_p.R294R|HPSE2_ENST00000370549.1_Silent_p.R236R NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 294 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) TGGAATAAATCCGGATGGGCT 0.493000 28 42 1.17739e-12 1.60296e-12 0.005443 1 0 PCDHB10 56126 broad.mit.edu 37 5 140574220 140574220 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:140574220G>T ENST00000239446.4 + 1 2279 c.2095G>T c.(2095-2097)Gtg>Ttg p.V699L NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 699 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTGGCCTCGGTGTCTTCGCT 0.716000 21 62 1.36615e-20 2.07214e-20 0.002836 1 0 PACSIN3 29763 broad.mit.edu 37 11 47201066 47201066 + Missense_Mutation SNP T T A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr11:47201066T>A ENST00000539589.1 - 7 1017 c.675A>T c.(673-675)gaA>gaT p.E225D PACSIN3_ENST00000298838.6_Missense_Mutation_p.E225D NM_001184975.1 NP_001171904.1 Q9UKS6 PACN3_HUMAN protein kinase C and casein kinase substrate in neurons 3 225 endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis cytoplasm|plasma membrane cytoskeletal protein binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5) 11 CAAAGGCCTGTTCCATGTCCT 0.582000 OREG0020952 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 43 0 0 0.010504 0 0 CPS1 1373 broad.mit.edu 37 2 211503873 211503873 + Splice_Site SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr2:211503873G>T ENST00000233072.5 + 23 3025 c.e23-1 CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000497121.1_Splice_Site|CPS1_ENST00000430249.2_Splice_Site NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTCTCTTACAGATTGATACAC 0.303000 10 18 1.58986e-06 1.86171e-06 0.008291 1 0 ZNF816 125893 broad.mit.edu 37 19 53459280 53459280 + Splice_Site SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:53459280C>A ENST00000357666.4 - 3 363 c.63_splice c.e3+1 p.Q21_splice ZNF816_ENST00000434371.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000391786.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000438970.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000444460.2_Splice_Site_p.Q21_splice|ZNF816_ENST00000270457.4_Splice_Site_p.Q21_splice|ZNF321P_ENST00000391777.3_Splice_Site_p.Q21_splice|ZNF816_ENST00000535506.1_Splice_Site_p.Q21_splice NM_001031665.2 NP_001026835.1 Q0VGE8 ZN816_HUMAN zinc finger protein 816 21 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2) 27 TATCACTTACCTGAGGAAGAG 0.428000 36 75 6.90743e-12 9.12911e-12 0.003755 1 0 SNCA 6622 broad.mit.edu 37 4 90756779 90756779 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr4:90756779C>T ENST00000394989.2 - 2 302 c.40G>A c.(40-42)Gga>Aga p.G14R SNCA_ENST00000420646.2_Missense_Mutation_p.G14R|SNCA_ENST00000394986.1_Missense_Mutation_p.G14R|SNCA_ENST00000502987.1_Missense_Mutation_p.G14R|SNCA_ENST00000345009.4_Missense_Mutation_p.G14R|SNCA_ENST00000394991.3_Missense_Mutation_p.G14R|SNCA_ENST00000508895.1_Missense_Mutation_p.G14R|SNCA_ENST00000336904.3_Missense_Mutation_p.G14R|SNCA_ENST00000505199.1_Missense_Mutation_p.G14R|SNCA_ENST00000506244.1_Missense_Mutation_p.G14R P37840 SYUA_HUMAN synuclein, alpha (non A4 component of amyloid precursor) 14 activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) GCCACAACTCCCTCCTTGGCC 0.423000 17 43 0 0 0.004990 0 0 FGFR2 2263 broad.mit.edu 37 10 123279634 123279634 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:123279634G>A ENST00000358487.5 - 7 1070 c.798C>T c.(796-798)gcC>gcT p.A266A FGFR2_ENST00000357555.5_Silent_p.A177A|FGFR2_ENST00000346997.2_Silent_p.A266A|FGFR2_ENST00000369061.4_Intron|FGFR2_ENST00000351936.6_Silent_p.A266A|FGFR2_ENST00000457416.2_Silent_p.A266A|FGFR2_ENST00000369060.4_Silent_p.A266A|FGFR2_ENST00000360144.3_Silent_p.A177A|FGFR2_ENST00000356226.4_Silent_p.A151A|FGFR2_ENST00000369059.1_Silent_p.A151A|FGFR2_ENST00000478859.1_Silent_p.A38A|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369056.1_Silent_p.A266A NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 266 Ig-like C2-type 3. angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) CCACTGTGGAGGCATTTGCCG 0.577000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 5 43 0 0 0.000602 0 0 STK11 6794 broad.mit.edu 37 19 1220715 1220715 + Splice_Site SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:1220715C>T ENST00000326873.7 + 5 1906 c.734_splice c.e5+1 p.L245_splice NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 245 Protein kinase. L -> R (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39). anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.?(2) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGGTCACCCTGTAAGTGCC 0.706000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 17 9 0 0 0.010504 0 0 DCAF6 55827 broad.mit.edu 37 1 168032861 168032861 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:168032861G>T ENST00000367840.3 + 18 2397 c.2303G>T c.(2302-2304)cGc>cTc p.R768L DCAF6_ENST00000432587.2_Missense_Mutation_p.R737L|DCAF6_ENST00000312263.6_Missense_Mutation_p.R677L|DCAF6_ENST00000367843.3_Missense_Mutation_p.R697L NM_001198956.1 NP_001185885.1 Q58WW2 DCAF6_HUMAN DDB1 and CUL4 associated factor 6 677 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 36 TCATATAGACGCTCTGCTGTT 0.299000 6 9 5.9392e-07 7.06452e-07 0.001168 1 0 DHX30 22907 broad.mit.edu 37 3 47887817 47887817 + Missense_Mutation SNP G G C rs71328953 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr3:47887817G>C ENST00000446256.2 + 12 1710 c.1138G>C c.(1138-1140)Gaa>Caa p.E380Q DHX30_ENST00000457607.1_Missense_Mutation_p.E447Q|DHX30_ENST00000348968.4_Missense_Mutation_p.E391Q|DHX30_ENST00000445061.1_Missense_Mutation_p.E419Q NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 419 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GAGTCTGCTAGAACTGTGGCG 0.632000 23 86 0 0 0.002780 0 0 DNAH10 196385 broad.mit.edu 37 12 124414242 124414242 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr12:124414242C>T ENST00000409039.3 + 71 12219 c.12194C>T c.(12193-12195)aCg>aTg p.T4065M DNAH10OS_ENST00000514254.2_3'UTR|CCDC92_ENST00000544798.1_Intron NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4065 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.T4065M(1)|p.T2657M(1) 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) ACGTACTTAACGAAAGCCTTC 0.507000 4 23 0 0 0.009096 0 0 LAMB1 3912 broad.mit.edu 37 7 107615715 107615715 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:107615715A>G ENST00000393561.1 - 9 1589 c.1405T>C c.(1405-1407)Tat>Cat p.Y469H LAMB1_ENST00000393560.1_Missense_Mutation_p.Y445H|LAMB1_ENST00000222399.6_Missense_Mutation_p.Y445H P07942 LAMB1_HUMAN laminin, beta 1 445 Laminin EGF-like 4. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3) 82 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTAAATCATAGAAGCCTTCT 0.363000 36 58 0 0 0.002522 0 0 ANO6 196527 broad.mit.edu 37 12 45725191 45725191 + Silent SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr12:45725191A>C ENST00000320560.8 + 3 466 c.264A>C c.(262-264)acA>acC p.T88T ANO6_ENST00000425752.2_Silent_p.T88T|ANO6_ENST00000441606.2_Silent_p.T70T|ANO6_ENST00000423947.3_Silent_p.T109T|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Silent_p.T88T NM_001025356.2 NP_001020527.2 Q4KMQ2 ANO6_HUMAN anoctamin 6 88 activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 AAAAGGGTACAAATGAAAAAC 0.299000 13 24 0 0 0.002450 0 0 COL2A1 1280 broad.mit.edu 37 12 48387269 48387269 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr12:48387269G>A ENST00000380518.3 - 15 1105 c.941C>T c.(940-942)cCg>cTg p.P314L COL2A1_ENST00000337299.6_Missense_Mutation_p.P245L NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 314 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GTTCTCACCCGGGGAACCACT 0.542000 7 35 0 0 0.001984 0 0 LILRB4 11006 broad.mit.edu 37 19 55175722 55175722 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:55175722G>A ENST00000391736.1 + 6 756 c.441G>A c.(439-441)cgG>cgA p.R147R LILRB4_ENST00000391733.3_Silent_p.R147R|LILRB4_ENST00000430952.2_Silent_p.R147R|LILRB4_ENST00000391734.3_Silent_p.R147R|LILRB4_ENST00000270452.2_Silent_p.R147R NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2 NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 147 Ig-like C2-type 2. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GTCAGTCACGGAGCCCAATGG 0.572000 36 71 0 0 0.003271 0 0 PHF21B 112885 broad.mit.edu 37 22 45309877 45309877 + Nonsense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr22:45309877G>T ENST00000313237.5 - 5 806 c.656C>A c.(655-657)tCa>tAa p.S219* PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000403565.1_Intron NM_138415.4 NP_612424.1 Q96EK2 PF21B_HUMAN PHD finger protein 21B 219 zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2) 25 all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731) UCEC - Uterine corpus endometrioid carcinoma (28;0.0203) aggggacagtgatggggaggg 0.647000 24 30 1.10923e-09 1.38501e-09 0.002780 1 0 TXLNB 167838 broad.mit.edu 37 6 139591688 139591688 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr6:139591688C>A ENST00000358430.3 - 4 824 c.592G>T c.(592-594)Gac>Tac p.D198Y NM_153235.3 NP_694967.3 Q8N3L3 TXLNB_HUMAN taxilin beta 198 cytoplasm breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TGTAACTGGTCCTTTTCTTTT 0.443000 28 18 8.24728e-16 1.17967e-15 0.004656 1 0 NLRP7 199713 broad.mit.edu 37 19 55453058 55453058 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:55453058A>T ENST00000446217.1 - 4 508 c.106T>A c.(106-108)Tgg>Agg p.W36R NLRP7_ENST00000448121.2_Missense_Mutation_p.W8R|NLRP7_ENST00000328092.5_Missense_Mutation_p.W8R|NLRP7_ENST00000340844.2_Missense_Mutation_p.W8R|NLRP7_ENST00000592784.1_Missense_Mutation_p.W8R|NLRP7_ENST00000590030.1_Missense_Mutation_p.W8R|NLRP7_ENST00000588756.1_Missense_Mutation_p.W8R Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 8 DAPIN. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TGCAGAGTCCACTCTAGCTGG 0.478000 18 23 0 0 0.007413 0 0 MUC6 4588 broad.mit.edu 37 11 1025300 1025300 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr11:1025300C>G ENST00000421673.2 - 23 2917 c.2867G>C c.(2866-2868)gGg>gCg p.G956A NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 956 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CGGCGTCACCCCGAGCTGCAC 0.642000 10 51 0 0 0.006214 0 0 ZMAT3 64393 broad.mit.edu 37 3 178785396 178785396 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr3:178785396C>T ENST00000311417.2 - 2 886 c.145G>A c.(145-147)Ggg>Agg p.G49R ZMAT3_ENST00000432729.1_Missense_Mutation_p.G49R NM_022470.3 NP_071915.1 Q9HA38 ZMAT3_HUMAN zinc finger, matrin-type 3 49 apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport nucleolus RNA binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1) 14 all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527) TCTTCTTCCCCTGCAAGAGGC 0.557000 39 26 0 0 0.004289 0 0 MYH13 8735 broad.mit.edu 37 17 10212750 10212750 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr17:10212750G>A ENST00000418404.3 - 34 5133 c.4970C>T c.(4969-4971)tCc>tTc p.S1657F MYH13_ENST00000252172.4_Missense_Mutation_p.S1657F|MYH13_ENST00000570743.1_Missense_Mutation_p.S1657F Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1657 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 ATGCAGCTGGGAGTCCTGCAG 0.672000 3 9 0 0 0.004672 0 0 KLF11 8462 broad.mit.edu 37 2 10186425 10186425 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr2:10186425G>A ENST00000535335.1 + 2 356 c.140G>A c.(139-141)gGt>gAt p.G47D KLF11_ENST00000540845.1_Missense_Mutation_p.G47D|KLF11_ENST00000305883.1_Missense_Mutation_p.G64D NM_001177718.1 NP_001171189.1 O14901 KLF11_HUMAN Kruppel-like factor 11 64 apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle nucleus sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228) TCCCAGAAAGGTGACCTGTTG 0.527000 17 24 0 0 0.006122 0 0 PCDHGB7 56099 broad.mit.edu 37 5 140798727 140798727 + Missense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:140798727C>T ENST00000398594.2 + 1 1301 c.1301C>T c.(1300-1302)tCc>tTc p.S434F PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018927.3 NP_061750.1 central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3) 56 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCGTTATCCTCCAGCAAAACC 0.552000 5 41 0 0 0.001168 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136650 40136650 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr11:40136650G>T ENST00000278198.2 - 2 3156 c.1193C>A c.(1192-1194)gCg>gAg p.A398E LRRC4C_ENST00000530763.1_Missense_Mutation_p.A398E|LRRC4C_ENST00000528697.1_Missense_Mutation_p.A398E|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A398E Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 398 Ig-like C2-type. regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) CACTTTGTACGCCCCATGTGT 0.463000 55 87 4.32865e-36 7.41117e-36 0.003610 1 0 USH2A 7399 broad.mit.edu 37 1 216062172 216062172 + Nonsense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:216062172C>A ENST00000366943.2 - 41 8205 c.7819G>T c.(7819-7821)Gga>Tga p.G2607* USH2A_ENST00000307340.3_Nonsense_Mutation_p.G2607*|RP5-1111A8.3_ENST00000414995.1_RNA O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2607 Fibronectin type-III 12. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGGAACATCCTTTTGAAGTG 0.473000 HNSCC(13;0.011) 62 37 5.19286e-32 8.56632e-32 0.003610 1 0 CASQ1 844 broad.mit.edu 37 1 160171074 160171074 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:160171074C>T ENST00000368079.3 + 11 1356 c.1081C>T c.(1081-1083)Ctg>Ttg p.L361L CASQ1_ENST00000368078.3_Silent_p.L367L|CASQ1_ENST00000467691.1_Silent_p.L88L NM_001231.4 NP_001222.3 P31415 CASQ1_HUMAN calsequestrin 1 (fast-twitch, skeletal muscle) 367 Asp-rich. mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum calcium ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1) 21 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGAGGAGGACCTGCCTTCTGC 0.547000 14 9 0 0 0.003163 0 0 FAM3C 10447 broad.mit.edu 37 7 120991230 120991230 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:120991230C>A ENST00000359943.3 - 9 774 c.561G>T c.(559-561)ggG>ggT p.G187G NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 187 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) TAATGCCCTTCCCACCACAGA 0.418000 26 64 2.16457e-27 3.54488e-27 0.008361 1 0 PTPRB 5787 broad.mit.edu 37 12 71029742 71029742 + Missense_Mutation SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr12:71029742A>G ENST00000334414.6 - 2 204 c.160T>C c.(160-162)Tgg>Cgg p.W54R PTPRB_ENST00000550358.1_Missense_Mutation_p.W54R|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.W53R NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 1. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCCTCAGTCCACATCCACTGC 0.512000 8 14 0 0 0.004482 0 0 CRTAC1 55118 broad.mit.edu 37 10 99664469 99664469 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:99664469C>A ENST00000370597.3 - 7 1308 c.953G>T c.(952-954)cGc>cTc p.R318L CRTAC1_ENST00000370591.2_Missense_Mutation_p.R318L|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R318L NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 318 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CAGATAGAGGCGGTGGGGGCC 0.597000 39 73 1.8453e-21 2.81782e-21 0.002522 1 0 CAMK2B 816 broad.mit.edu 37 7 44283039 44283039 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:44283039G>T ENST00000395749.2 - 7 578 c.502C>A c.(502-504)Cag>Aag p.Q168K CAMK2B_ENST00000440254.2_Missense_Mutation_p.Q168K|CAMK2B_ENST00000353625.4_Missense_Mutation_p.Q168K|CAMK2B_ENST00000350811.3_Missense_Mutation_p.Q168K|CAMK2B_ENST00000395747.2_Missense_Mutation_p.Q168K|CAMK2B_ENST00000346990.4_Missense_Mutation_p.Q168K|CAMK2B_ENST00000502837.2_Missense_Mutation_p.Q39K|CAMK2B_ENST00000347193.4_Missense_Mutation_p.Q168K|CAMK2B_ENST00000358707.3_Missense_Mutation_p.Q168K|CAMK2B_ENST00000258682.6_Missense_Mutation_p.Q168K|CAMK2B_ENST00000457475.1_Missense_Mutation_p.Q168K NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 168 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 CATGCCTGCTGGTCCCCCTGC 0.632000 20 51 1.33834e-09 1.66189e-09 0.007413 1 0 GRM8 2918 broad.mit.edu 37 7 126746607 126746607 + Missense_Mutation SNP C C G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:126746607C>G ENST00000339582.2 - 3 1478 c.670G>C c.(670-672)Gag>Cag p.E224Q GRM8_ENST00000444921.2_Missense_Mutation_p.E224Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.E224Q|GRM8_ENST00000405249.1_Missense_Mutation_p.E224Q O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 224 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TAGTTCCCCTCAGAAGCCAGT 0.498000 HNSCC(24;0.065) 22 29 0 0 0.002780 0 0 MFN2 9927 broad.mit.edu 37 1 12058906 12058906 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:12058906G>A ENST00000235329.5 + 7 1001 c.679G>A c.(679-681)Gcc>Acc p.A227T MFN2_ENST00000444836.1_Missense_Mutation_p.A227T NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 227 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) TGTGCTGGTGGCCAACTCAGA 0.562000 72 80 0 0 0.003610 0 0 KCNJ3 3760 broad.mit.edu 37 2 155711687 155711687 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr2:155711687C>T ENST00000295101.2 + 3 1845 c.1368C>T c.(1366-1368)acC>acT p.T456T NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 456 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CTAAAACCACCAAGATGTTAT 0.468000 30 37 0 0 0.008361 0 0 VN1R4 317703 broad.mit.edu 37 19 53770108 53770108 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:53770108C>A ENST00000311170.4 - 1 864 c.811G>T c.(811-813)Gcc>Tcc p.A271S NM_173857.2 NP_776256.2 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 271 response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 22 GBM - Glioblastoma multiforme(134;0.00294) CTCATTAAGGCTGAAGTGTTC 0.438000 HNSCC(26;0.072) 23 40 3.83957e-06 4.42726e-06 0.002780 1 0 KCNC2 3747 broad.mit.edu 37 12 75601467 75601467 + Silent SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr12:75601467G>C ENST00000549446.1 - 2 977 c.297C>G c.(295-297)ggC>ggG p.G99G KCNC2_ENST00000298972.1_Silent_p.G99G|KCNC2_ENST00000550433.1_Silent_p.G99G|KCNC2_ENST00000393288.2_Silent_p.G99G|KCNC2_ENST00000341669.3_Silent_p.G99G|KCNC2_ENST00000548513.1_Silent_p.G99G|KCNC2_ENST00000540018.1_Silent_p.G99G|KCNC2_ENST00000350228.2_Silent_p.G99G NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 99 Gly/Pro-rich (insert). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 AGAACTCGCGGCCGCCACCGG 0.731000 4 6 0 0 0.001168 0 0 F11R 50848 broad.mit.edu 37 1 160969998 160969998 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:160969998G>A ENST00000368026.6 - 5 803 c.529C>T c.(529-531)Ccc>Tcc p.P177S F11R_ENST00000472573.1_5'UTR|F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.P128S NM_016946.4 NP_058642.1 Q9Y624 JAM1_HUMAN F11 receptor 177 Ig-like V-type 2. blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2) 12 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) GTGCTTTTGGGATTCGTAGGC 0.517000 38 84 0 0 0.004289 0 0 FNBP1L 54874 broad.mit.edu 37 1 94014886 94014886 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:94014886C>T ENST00000260506.8 + 13 1531 c.1380C>T c.(1378-1380)ccC>ccT p.P460P FNBP1L_ENST00000370253.2_Silent_p.P460P|FNBP1L_ENST00000604705.1_Silent_p.P518P|FNBP1L_ENST00000370256.4_Silent_p.P513P|FNBP1L_ENST00000271234.7_Silent_p.P518P NM_001024948.2|NM_017737.4 NP_001020119.1|NP_060207.2 Q5T0N5 FBP1L_HUMAN formin binding protein 1-like 518 Interaction with CDC42. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) GTGGGCCACCCCAGCAGCATG 0.418000 14 30 0 0 0.006122 0 0 CTR9 9646 broad.mit.edu 37 11 10778300 10778300 + Missense_Mutation SNP A A C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr11:10778300A>C ENST00000361367.2 + 5 933 c.507A>C c.(505-507)aaA>aaC p.K169N NM_014633.3 NP_055448.1 Q6PD62 CTR9_HUMAN CTR9, Paf1/RNA polymerase II complex component 169 histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1) 40 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TTACAGGTAAAGCTTGCATTT 0.333000 18 49 0 0 0.007413 0 0 TTK 7272 broad.mit.edu 37 6 80715587 80715587 + Silent SNP A A G TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr6:80715587A>G ENST00000509894.1 + 2 856 c.27A>G c.(25-27)agA>agG p.R9R TTK_ENST00000369798.2_Silent_p.R9R|TTK_ENST00000230510.3_Silent_p.R9R P33981 TTK_HUMAN TTK protein kinase 9 mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TAAGTGGCAGAGAATTGACAA 0.299000 15 14 0 0 0.003163 0 0 ZNF560 147741 broad.mit.edu 37 19 9582050 9582050 + Nonsense_Mutation SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:9582050C>T ENST00000301480.4 - 6 456 c.243G>A c.(241-243)tgG>tgA p.W81* NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 81 KRAB 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GTTTTATTGCCCAGTCTGAAA 0.289000 28 17 0 0 0.005443 0 0 MIR520H 574493 broad.mit.edu 37 19 54245780 54245780 + RNA SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:54245780C>A ENST00000385126.1 + 0 15 NR_030215.1 ATGCTGTGACCCTCTAGAGGA 0.403000 35 71 3.61848e-18 5.31023e-18 0.007835 1 0 PCDHGA6 56109 broad.mit.edu 37 5 140755487 140755487 + Nonsense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:140755487G>T ENST00000517434.1 + 1 1837 c.1837G>T c.(1837-1839)Gag>Tag p.E613* PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGGCCAGCGAGCCAGGACT 0.687000 28 34 8.58068e-18 1.25112e-17 0.007291 1 0 SLC12A1 6557 broad.mit.edu 37 15 48551450 48551450 + Missense_Mutation SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr15:48551450A>T ENST00000396577.3 + 17 2311 c.2096A>T c.(2095-2097)gAc>gTc p.D699V SLC12A1_ENST00000558405.1_Missense_Mutation_p.D699V|SLC12A1_ENST00000380993.3_Missense_Mutation_p.D699V NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 699 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) GCTCTCCTGGACATAACTCAC 0.502000 34 89 0 0 0.004878 0 0 OR2M5 127059 broad.mit.edu 37 1 248308515 248308515 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:248308515C>A ENST00000366476.1 + 1 66 c.66C>A c.(64-66)ccC>ccA p.P22P NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) ATCACAGCCCCACCCACACCT 0.478000 227 141 3.87791e-117 6.90085e-117 0.003610 1 0 BOD1 91272 broad.mit.edu 37 5 173036425 173036425 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:173036425C>A ENST00000311086.4 - 3 598 c.375G>T c.(373-375)ttG>ttT p.L125F BOD1_ENST00000480951.1_Intron|BOD1_ENST00000285908.5_Intron NM_138369.2 NP_612378.1 Q96IK1 BOD1_HUMAN biorientation of chromosomes in cell division 1 125 cell division|mitosis condensed chromosome kinetochore|microtubule organizing center endometrium(1)|large_intestine(2)|lung(2)|ovary(2) 7 CTCCAGCTTCCAACATCCCTG 0.448000 23 102 1.96895e-08 2.37958e-08 0.002780 1 0 SPTBN4 57731 broad.mit.edu 37 19 41019317 41019317 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:41019317G>T ENST00000352632.3 + 14 2707 c.2621G>T c.(2620-2622)cGc>cTc p.R874L SPTBN4_ENST00000595535.1_Missense_Mutation_p.R874L|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R874L|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R874L|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R874L Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 874 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton p.R874H(1) breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGCTGAGGCGCCAGTGGCTG 0.667000 6 5 0.00198382 0.00219776 0.001984 1 0 TGFBRAP1 9392 broad.mit.edu 37 2 105897176 105897176 + Missense_Mutation SNP C C A rs56016004 by1000genomes TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr2:105897176C>A ENST00000393359.2 - 6 1552 c.1126G>T c.(1126-1128)Ggc>Tgc p.G376C TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.G376C Q8WUH2 TGFA1_HUMAN transforming growth factor, beta receptor associated protein 1 376 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 TCAAGCTGGCCGCTTCTGCAA 0.542000 8 14 5.18039e-06 5.88326e-06 0.003080 1 0 CXCL1 2919 broad.mit.edu 37 4 74735447 74735447 + Silent SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr4:74735447C>T ENST00000395761.3 + 2 229 c.162C>T c.(160-162)ccC>ccT p.P54P CXCL1_ENST00000509101.1_3'UTR NM_001511.3 NP_001502.1 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 54 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity lung(2) 2 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) GAATTCACCCCAAGAACATCC 0.627000 31 61 0 0 0.008361 0 0 PKLR 5313 broad.mit.edu 37 1 155271116 155271116 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr1:155271116G>T ENST00000342741.4 - 1 109 c.71C>A c.(70-72)gCa>gAa p.A24E NM_000298.5 NP_000289.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 24 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GATGGACTTTGCTAAGTCTCT 0.537000 67 36 6.20995e-33 1.03195e-32 0.003610 1 0 GIMAP4 55303 broad.mit.edu 37 7 150269373 150269373 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:150269373G>T ENST00000255945.2 + 3 390 c.215G>T c.(214-216)cGc>cTc p.R72L GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.R86L NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 72 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGTGAGAAACGCAGCAGCTCA 0.483000 14 32 6.72482e-11 8.73454e-11 0.003163 1 0 FANCA 2175 broad.mit.edu 37 16 89858414 89858414 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr16:89858414C>A ENST00000389301.3 - 13 1176 c.1146G>T c.(1144-1146)caG>caT p.Q382H FANCA_ENST00000568369.1_Missense_Mutation_p.Q382H NM_000135.2 NP_000126.2 O15360 FANCA_HUMAN Fanconi anemia, complementation group A 382 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AGTGAACCTCCTGCGTTTCCA 0.517000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 22 36 2.70639e-06 3.13664e-06 0.002299 1 0 MYH4 4622 broad.mit.edu 37 17 10363356 10363356 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr17:10363356G>A ENST00000255381.2 - 14 1439 c.1329C>T c.(1327-1329)gtC>gtT p.V443V CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 443 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGATGCGGGTGACCATCCACA 0.473000 77 162 0 0 0.003610 0 0 CKB 1152 broad.mit.edu 37 14 103988639 103988639 + Splice_Site SNP C C T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr14:103988639C>T ENST00000348956.2 - 2 549 c.193_splice c.e2+1 p.P64_splice NM_001823.4 NP_001814.2 P12277 KCRB_HUMAN creatine kinase, brain 64 Phosphagen kinase N-terminal. creatine metabolic process cytosol ATP binding|creatine kinase activity lung(2)|prostate(1) 3 Melanoma(154;0.155) Epithelial(46;0.14) Creatine(DB00148) GTCGCGTACCCGGGTTGTCCA 0.741000 5 13 0 0 0.000602 0 0 EHBP1 23301 broad.mit.edu 37 2 63101479 63101479 + Splice_Site SNP A A T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr2:63101479A>T ENST00000263991.5 + 11 1585 c.e11-1 EHBP1_ENST00000405015.3_Splice_Site|EHBP1_ENST00000354487.3_Splice_Site|EHBP1_ENST00000405289.1_Splice_Site|EHBP1_ENST00000431489.1_Splice_Site NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TCTTTCACTTAGATCAAATCC 0.289000 23 33 0 0 0.002780 0 0 PCSK5 5125 broad.mit.edu 37 9 78965780 78965780 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr9:78965780G>T ENST00000545128.1 + 35 5460 c.4922G>T c.(4921-4923)aGt>aTt p.S1641I NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 806 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGTGTGTGGAGTTACCACCTC 0.483000 25 78 5.24475e-26 8.46653e-26 0.004656 1 0 MDGA2 161357 broad.mit.edu 37 14 47566205 47566205 + Silent SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr14:47566205G>A ENST00000426342.1 - 6 899 c.153C>T c.(151-153)tcC>tcT p.S51S MDGA2_ENST00000399232.2_Silent_p.S349S|MDGA2_ENST00000439988.2_Silent_p.S280S|MDGA2_ENST00000357362.3_Silent_p.S51S NM_182830.3 NP_878250.2 Q7Z553 MDGA2_HUMAN MAM domain containing glycosylphosphatidylinositol anchor 2 280 Ig-like 1. spinal cord motor neuron differentiation anchored to membrane|plasma membrane breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5) 76 GAGTCCCAAAGGACCTGACCC 0.468000 30 58 0 0 0.009535 0 0 FLNB 2317 broad.mit.edu 37 3 58140628 58140628 + Missense_Mutation SNP G G T rs144963323 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr3:58140628G>T ENST00000295956.4 + 40 6910 c.6745G>T c.(6745-6747)Ggt>Tgt p.G2249C FLNB_ENST00000419752.2_Missense_Mutation_p.G2069C|FLNB_ENST00000493452.1_Missense_Mutation_p.G2056C|FLNB_ENST00000490882.1_Missense_Mutation_p.G2280C|FLNB_ENST00000358537.3_Missense_Mutation_p.G2225C|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000348383.5_Missense_Mutation_p.G2208C|FLNB_ENST00000429972.2_Missense_Mutation_p.G2238C NM_001457.3 NP_001448.2 O75369 FLNB_HUMAN filamin B, beta 2249 Interaction with INPPL1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TGGGTCGTGCGGTGTATCTTA 0.488000 22 34 5.35356e-11 6.99367e-11 0.002780 1 0 SEMG1 6406 broad.mit.edu 37 20 43837137 43837137 + Missense_Mutation SNP G G C rs147894843 TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr20:43837137G>C ENST00000372781.3 + 2 1256 c.1199G>C c.(1198-1200)gGt>gCt p.G400A SEMG1_ENST00000244069.6_Missense_Mutation_p.G340A NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CCATGGCATGGTGAAAATGCA 0.438000 35 34 0 0 0.002445 0 0 SOX30 11063 broad.mit.edu 37 5 157078524 157078524 + Missense_Mutation SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr5:157078524G>T ENST00000265007.6 - 1 904 c.563C>A c.(562-564)gCg>gAg p.A188E SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.A188E NM_178424.1 NP_848511.1 O94993 SOX30_HUMAN SRY (sex determining region Y)-box 30 188 regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 23 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GACCTCCTCCGCCTCCAGCTT 0.642000 77 50 3.76054e-38 6.48764e-38 0.003610 1 0 MKI67 4288 broad.mit.edu 37 10 129902508 129902508 + Silent SNP G G T TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:129902508G>T ENST00000368654.3 - 13 7971 c.7596C>A c.(7594-7596)atC>atA p.I2532I MKI67_ENST00000368653.3_Silent_p.I2172I NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2532 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CTGGGTCCAGGATCTGCTTTG 0.512000 74 107 2.08929e-35 3.55021e-35 0.003610 1 0 KHSRP 8570 broad.mit.edu 37 19 6420440 6420440 + Silent SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:6420440C>A ENST00000398148.3 - 5 560 c.468G>T c.(466-468)gtG>gtT p.V156V NM_003685.2 NP_003676.2 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 156 Gly-rich.|KH 1. mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1) 17 CACTCAGGCCCACCATGCCGT 0.592000 12 10 1.5842e-08 1.92489e-08 0.001855 1 0 FAM86DP 692099 broad.mit.edu 37 3 75475685 75475685 + RNA SNP A A G rs11128433 by1000genomes TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr3:75475685A>G ENST00000459803.1 - 0 844 NR_024241.1 TGGTGCTCCCAGCAGGCAGCC 0.602000 3 48 0 0 0.000602 0 0 GIMAP7 168537 broad.mit.edu 37 7 150217516 150217516 + Missense_Mutation SNP G G A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr7:150217516G>A ENST00000313543.4 + 2 611 c.454G>A c.(454-456)Ggc>Agc p.G152S NM_153236.3 NP_694968.1 Q8NHV1 GIMA7_HUMAN GTPase, IMAP family member 7 152 GTP binding breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 17 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCGGATGTGGGCCTAAAAAG 0.502000 14 23 0 0 0.001855 0 0 FLRT2 23768 broad.mit.edu 37 14 86088584 86088584 + Silent SNP G G C TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr14:86088584G>C ENST00000330753.4 + 2 1493 c.726G>C c.(724-726)ctG>ctC p.L242L FLRT2_ENST00000554746.1_Silent_p.L242L NM_013231.4 NP_037363.1 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 242 cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 73 BRCA - Breast invasive adenocarcinoma(234;0.0319) GTAATTCGCTGTCCCACCCTC 0.502000 47 61 0 0 0.002522 0 0 ESPNP 284729 broad.mit.edu 37 1 17034125 17034126 + RNA INS - - AGCT rs141324796 by1000genomes TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr1:17034125_17034126insAGCT ENST00000492551.1 - 0 477_478 NR_026567.1 CAGCAGCAGCCAGCTGAGCACC 0.718 4 3 --- --- --- --- REG3G 130120 broad.mit.edu 37 2 79255038 79255038 + Frame_Shift_Del DEL G G - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:79255038delG ENST00000272324.5 + 5 623 c.439delG c.(439-441)ggfs p.G147fs REG3G_ENST00000409471.1_Frame_Shift_Del_p.G101fs|REG3G_ENST00000393897.2_Frame_Shift_Del_p.G147fs NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 147 C-type lectin. acute-phase response extracellular region sugar binding p.G147W(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGCCACTGTGGGAGCCTGTC 0.488 30 74 --- --- --- --- ANKRD36 375248 broad.mit.edu 37 2 97808574 97808575 + Splice_Site INS - - A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr2:97808574_97808575insA ENST00000420699.2 + 8 1145 c.e8+2 ANKRD36_ENST00000461153.2_Splice_Site NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 p.?(1) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CTGGGACAGGTATTTTGGAATA 0.366 6 10 --- --- --- --- XRN1 54464 broad.mit.edu 37 3 142123826 142123826 + Frame_Shift_Del DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr3:142123826delC ENST00000264951.4 - 16 1923 c.1806delG c.(1804-1806)tgfs p.W602fs XRN1_ENST00000392981.2_Frame_Shift_Del_p.W602fs NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 602 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 CTCTATCATACCAGCACATTA 0.403 38 19 --- --- --- --- KIAA1045 23349 broad.mit.edu 37 9 34972519 34972519 + Frame_Shift_Del DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:34972519delC ENST00000242315.3 + 3 637 c.555delC c.(553-555)tgfs p.C185fs KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Frame_Shift_Del_p.C185fs NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 185 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) GCTGGAGCTGCCACTACTGTG 0.557 23 18 --- --- --- --- CIZ1 25792 broad.mit.edu 37 9 130953109 130953111 + In_Frame_Del DEL GCT GCT - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr9:130953109_130953111delGCT ENST00000538431.1 - 2 273_275 c.26_28delAGC c.(25-30)ctc>c p.QL9del CIZ1_ENST00000541172.1_5'UTR|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 9 Gln-rich. Missing (in Ref. 7; AAF23231). nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 tgttgctggagctgctgctgctg 0.611 2 4 --- --- --- --- SLIT1 6585 broad.mit.edu 37 10 98799774 98799774 + Frame_Shift_Del DEL G G - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr10:98799774delG ENST00000266058.4 - 21 2513 c.2268delC c.(2266-2268)ccfs p.P756fs ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Frame_Shift_Del_p.P756fs NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 756 LRRNT 4. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GAATGCCCTTGGGCAGGGCCC 0.652 17 41 --- --- --- --- ZNF592 9640 broad.mit.edu 37 15 85341834 85341834 + Frame_Shift_Del DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr15:85341834delC ENST00000299927.3 + 5 2774 c.2752delC c.(2752-2754)ccfs p.P918fs ZNF592_ENST00000560079.2_Frame_Shift_Del_p.P918fs Q92610 ZN592_HUMAN zinc finger protein 592 918 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCACGGTGTTCCCCGAAATGT 0.607 23 42 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 70975590 70975590 + Frame_Shift_Del DEL G G - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr16:70975590delG ENST00000393567.2 - 43 6952 c.6802delC c.(6802-6804)agfs p.Q2268fs NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2268 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GCGTAATCCTGGGCCATGTTG 0.527 15 196 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44172067 44172067 + Splice_Site DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr17:44172067delC ENST00000262419.6 - 3 1760 c.1289_splice c.e3-1 p.L430_splice KANSL1_ENST00000432791.1_Splice_Site_p.L430_splice|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Splice_Site_p.L430_splice|KANSL1_ENST00000574590.1_Splice_Site_p.L430_splice|KANSL1_ENST00000572904.1_Splice_Site_p.L430_splice NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 430 MLL1 complex protein binding ACCTGCGTCTCCTAAAAGGAA 0.463 42 112 --- --- --- --- ZNF331 55422 broad.mit.edu 37 19 54080642 54080653 + In_Frame_Del DEL TGGGAAGGCTTT TGGGAAGGCTTT - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 4929c3d1-f4da-4766-9d13-85b5c7babf4c g.chr19:54080642_54080653delTGGGAAGGCTTT ENST00000253144.9 + 7 2161_2172 c.828_839delTGGGAAGGCTTT c.(826-840)tgt>tg p.CGKAF276del ZNF331_ENST00000411977.2_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000513999.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000449416.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000511593.2_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000511154.1_In_Frame_Del_p.CGKAF276del NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GTAAAGACTGTGGGAAGGCTTTTATTTGTGGT 0.420 T ? follicular thyroid adenoma 18 48 --- --- --- --- REG3G 130120 broad.mit.edu 37 2 79255038 79255038 + Frame_Shift_Del DEL G G - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr2:79255038delG ENST00000272324.5 + 5 623 c.439delG c.(439-441)ggfs p.G147fs REG3G_ENST00000409471.1_Frame_Shift_Del_p.G101fs|REG3G_ENST00000393897.2_Frame_Shift_Del_p.G147fs NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 147 C-type lectin. acute-phase response extracellular region sugar binding p.G147W(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 TGGCCACTGTGGGAGCCTGTC 0.488 30 74 --- --- --- --- XRN1 54464 broad.mit.edu 37 3 142123826 142123826 + Frame_Shift_Del DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr3:142123826delC ENST00000264951.4 - 16 1923 c.1806delG c.(1804-1806)tgfs p.W602fs XRN1_ENST00000392981.2_Frame_Shift_Del_p.W602fs NM_019001.3 NP_061874.3 Q8IZH2 XRN1_HUMAN 5'-3' exoribonuclease 1 602 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane 5'-3' exonuclease activity|DNA binding|protein binding|RNA binding NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 61 CTCTATCATACCAGCACATTA 0.403 38 19 --- --- --- --- KIAA1045 23349 broad.mit.edu 37 9 34972519 34972519 + Frame_Shift_Del DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr9:34972519delC ENST00000242315.3 + 3 637 c.555delC c.(553-555)tgfs p.C185fs KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Frame_Shift_Del_p.C185fs NM_015297.1 NP_056112.1 Q9UPV7 K1045_HUMAN KIAA1045 185 calcium ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(32;0.00575) GCTGGAGCTGCCACTACTGTG 0.557 23 18 --- --- --- --- CIZ1 25792 broad.mit.edu 37 9 130953109 130953111 + In_Frame_Del DEL GCT GCT - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr9:130953109_130953111delGCT ENST00000538431.1 - 2 273_275 c.26_28delAGC c.(25-30)ctc>c p.QL9del CIZ1_ENST00000372954.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000372938.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372948.3_In_Frame_Del_p.QL9del|CIZ1_ENST00000357558.5_In_Frame_Del_p.QL9del|CIZ1_ENST00000325721.8_In_Frame_Del_p.QL9del|CIZ1_ENST00000277465.4_In_Frame_Del_p.QL9del|CIZ1_ENST00000393608.1_In_Frame_Del_p.QL9del|CIZ1_ENST00000541172.1_5'UTR NM_001257975.1 NP_001244904.1 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 9 Gln-rich. Missing (in Ref. 7; AAF23231). nucleus nucleic acid binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2) 35 tgttgctggagctgctgctgctg 0.611 2 4 --- --- --- --- SLIT1 6585 broad.mit.edu 37 10 98799774 98799774 + Frame_Shift_Del DEL G G - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr10:98799774delG ENST00000266058.4 - 21 2513 c.2268delC c.(2266-2268)ccfs p.P756fs SLIT1_ENST00000371070.4_Frame_Shift_Del_p.P756fs|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR NM_003061.2 NP_003052.2 O75093 SLIT1_HUMAN slit homolog 1 (Drosophila) 756 LRRNT 4. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 78 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) GAATGCCCTTGGGCAGGGCCC 0.652 17 41 --- --- --- --- ZNF592 9640 broad.mit.edu 37 15 85341834 85341834 + Frame_Shift_Del DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr15:85341834delC ENST00000299927.3 + 5 2774 c.2752delC c.(2752-2754)ccfs p.P918fs ZNF592_ENST00000560079.2_Frame_Shift_Del_p.P918fs Q92610 ZN592_HUMAN zinc finger protein 592 918 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCACGGTGTTCCCCGAAATGT 0.607 23 42 --- --- --- --- HAGHL 84264 broad.mit.edu 37 16 778955 778955 + Frame_Shift_Del DEL G G - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr16:778955delG ENST00000341413.4 + 7 941 c.660delG c.(658-660)gtfs p.V220fs HAGHL_ENST00000549114.1_3'UTR|HAGHL_ENST00000564537.1_3'UTR|HAGHL_ENST00000389703.3_Intron|HAGHL_ENST00000564545.1_3'UTR|HAGHL_ENST00000561546.1_Intron Q6PII5 HAGHL_HUMAN hydroxyacylglutathione hydrolase-like 220 hydrolase activity|metal ion binding lung(3) 3 Hepatocellular(780;0.00335) GCTTCGGGGTGGGGGGGGCTC 0.667 2 4 --- --- --- --- HYDIN 54768 broad.mit.edu 37 16 70975590 70975590 + Frame_Shift_Del DEL G G - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr16:70975590delG ENST00000393567.2 - 43 6952 c.6802delC c.(6802-6804)agfs p.Q2268fs NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2268 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) GCGTAATCCTGGGCCATGTTG 0.527 15 196 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44172067 44172067 + Splice_Site DEL C C - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr17:44172067delC ENST00000262419.6 - 3 1760 c.1289_splice c.e3-1 p.L430_splice KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Splice_Site_p.L430_splice|KANSL1_ENST00000574590.1_Splice_Site_p.L430_splice|KANSL1_ENST00000572904.1_Splice_Site_p.L430_splice|KANSL1_ENST00000432791.1_Splice_Site_p.L430_splice NM_001193466.1 NP_001180395.1 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 430 MLL1 complex protein binding ACCTGCGTCTCCTAAAAGGAA 0.463 42 112 --- --- --- --- ZNF331 55422 broad.mit.edu 37 19 54080642 54080653 + In_Frame_Del DEL TGGGAAGGCTTT TGGGAAGGCTTT - TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-11A-01D-2063-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1416b4c9-f535-4611-b4b9-85fbd0f7b0a4 6f92349d-fec0-4580-867c-f3529059176a g.chr19:54080642_54080653delTGGGAAGGCTTT ENST00000253144.9 + 7 2161_2172 c.828_839delTGGGAAGGCTTT c.(826-840)tgt>tg p.CGKAF276del ZNF331_ENST00000449416.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000411977.2_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000513999.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000512387.1_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000511593.2_In_Frame_Del_p.CGKAF276del|ZNF331_ENST00000511154.1_In_Frame_Del_p.CGKAF276del NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) GTAAAGACTGTGGGAAGGCTTTTATTTGTGGT 0.420 T ? follicular thyroid adenoma 18 48 --- --- --- ---