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 CCT8 10694 broad.mit.edu 37 21 30440001 30440001 + Missense_Mutation SNP A A G TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr21:30440001A>G ENST00000286788.4 - 4 463 c.257T>C c.(256-258)aTt>aCt p.I86T CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000470450.1_5'UTR NM_006585.2 NP_006576.2 P50990 TCPQ_HUMAN chaperonin containing TCP1, subunit 8 (theta) 86 'de novo' posttranslational protein folding aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center ATP binding|ATPase activity, coupled|unfolded protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3) 14 AGCCATTACAATCATTTTTGC 0.368000 4 60 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46419176 46419176 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr11:46419176G>A ENST00000458649.2 - 18 4139 c.3721C>T c.(3721-3723)Cgg>Tgg p.R1241W AMBRA1_ENST00000314845.3_Missense_Mutation_p.R1151W|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R1212W|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R1212W|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R1181W|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R1181W|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R1122W Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 1241 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GTTGGCTCCCGCCCAGGGGTA 0.672000 30 42 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97874267 97874267 + Missense_Mutation SNP G G C TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr7:97874267G>C ENST00000447648.2 - 4 637 c.338C>G c.(337-339)tCg>tGg p.S113W TECPR1_ENST00000379795.3_Missense_Mutation_p.S113W|TECPR1_ENST00000542604.1_Missense_Mutation_p.S34W Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 113 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CCAGTGCGGCGAGGGCAGTGC 0.617000 10 45 0 0 1 0 0 OR3A2 4995 broad.mit.edu 37 17 3181586 3181586 + Missense_Mutation SNP A A G TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr17:3181586A>G ENST00000408891.2 - 1 682 c.644T>C c.(643-645)aTg>aCg p.M215T NM_002551.3 NP_002542.3 P47893 OR3A2_HUMAN olfactory receptor, family 3, subfamily A, member 2 215 sensory perception of smell integral to plasma membrane olfactory receptor activity ovary(1) 1 TGTGCCTGCCATGATGAAACC 0.547000 39 60 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231331885 231331885 + Missense_Mutation SNP G G A rs144727058 TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr2:231331885G>A ENST00000264052.5 + 13 1601 c.1246G>A c.(1246-1248)Gca>Aca p.A416T SP100_ENST00000409341.1_Missense_Mutation_p.A416T|SP100_ENST00000409897.1_Missense_Mutation_p.A381T|SP100_ENST00000341950.4_Missense_Mutation_p.A416T|SP100_ENST00000409112.1_Missense_Mutation_p.A416T|SP100_ENST00000427101.2_Missense_Mutation_p.A391T|SP100_ENST00000340126.4_Missense_Mutation_p.A416T|SP100_ENST00000409824.1_Missense_Mutation_p.A391T NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 416 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) GGAGGCGCCCGCAGAAGCCTC 0.527000 87 104 0 0 1 0 0 NUDT18 79873 broad.mit.edu 37 8 21965732 21965732 + Silent SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr8:21965732C>T ENST00000309188.6 - 4 406 c.288G>A c.(286-288)gcG>gcA p.A96A NUDT18_ENST00000522405.1_Silent_p.A19A|NUDT18_ENST00000521807.2_3'UTR NM_024815.3 NP_079091.3 Q6ZVK8 NUD18_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 18 96 Nudix hydrolase. hydrolase activity|metal ion binding|protein binding breast(1)|central_nervous_system(1)|lung(2) 4 Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986) AGTGCAGCCCCGCCTCCTCCT 0.697000 3 11 0 0 1 0 0 L2HGDH 79944 broad.mit.edu 37 14 50735882 50735882 + Splice_Site SNP G G A rs118204020 TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr14:50735882G>A ENST00000267436.4 - 7 1302 c.906_splice c.e7+1 p.P302_splice L2HGDH_ENST00000421284.3_Splice_Site_p.P302_splice|L2HGDH_ENST00000261699.4_Splice_Site_p.P302_splice Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase 302 P -> L (in L2HGA). 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) ATTACCTACCGGATAAATATT 0.388000 31 45 0 0 1 0 0 FGD2 221472 broad.mit.edu 37 6 36979617 36979617 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr6:36979617C>T ENST00000274963.8 + 4 685 c.514C>T c.(514-516)Cgc>Tgc p.R172C NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 172 DH. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 GCTGCAGCGGCGCCTGGACGA 0.617000 23 32 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514946 95514946 + RNA SNP C C T rs143937878 by1000genomes TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr2:95514946C>T ENST00000432432.2 - 0 711 NR_040113.1 p.R201Q(1) ACTACTGTACCGTCTCAGCCT 0.308000 4 178 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34298551 34298551 + Missense_Mutation SNP A A G TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr18:34298551A>G ENST00000257209.4 + 16 2887 c.2765A>G c.(2764-2766)gAc>gGc p.D922G FHOD3_ENST00000445677.1_Missense_Mutation_p.D884G|FHOD3_ENST00000359247.4_Missense_Mutation_p.D905G|FHOD3_ENST00000590592.1_Missense_Mutation_p.D1097G|FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000591635.1_Missense_Mutation_p.D118G NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 905 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) CGGCCTTTTGACTGGCCATGT 0.502000 78 105 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116525951 116525951 + Missense_Mutation SNP T T A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr2:116525951T>A ENST00000410059.1 + 13 1672 c.1192T>A c.(1192-1194)Ttt>Att p.F398I DPP10_ENST00000409163.1_Missense_Mutation_p.F348I|DPP10_ENST00000310323.8_Missense_Mutation_p.F391I|DPP10_ENST00000393147.2_Missense_Mutation_p.F402I NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 398 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 ACGTGGAGAATTTCACCACGT 0.463000 24 31 0 0 1 0 0 CCDC88C 440193 broad.mit.edu 37 14 91770249 91770249 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr14:91770249G>A ENST00000389857.6 - 20 3517 c.3431C>T c.(3430-3432)aCg>aTg p.T1144M NM_001080414.3 NP_001073883.2 Q9P219 DAPLE_HUMAN coiled-coil domain containing 88C 1144 microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway cytoplasm|insoluble fraction microtubule binding|PDZ domain binding|protein self-association central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1) 24 all_cancers(154;0.0468) CTCCTTGGCCGTGTGGTGGTT 0.657000 54 63 0 0 1 0 0 SOX17 64321 broad.mit.edu 37 8 55370802 55370802 + Nonsense_Mutation SNP C C A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr8:55370802C>A ENST00000297316.4 + 1 308 c.104C>A c.(103-105)tCg>tAg p.S35* NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 35 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) TGGGCCGAGTCGCTGAGCCCC 0.741000 9 14 5.4927e-09 5.61476e-09 1 1 0 RSPH6A 81492 broad.mit.edu 37 19 46313896 46313896 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr19:46313896C>T ENST00000221538.3 - 2 995 c.853G>A c.(853-855)Ggc>Agc p.G285S RSPH6A_ENST00000597055.1_Missense_Mutation_p.G285S|RSPH6A_ENST00000600188.1_Missense_Mutation_p.G21S NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 285 intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 CCTTCAGTGCCGCCTCCACTC 0.627000 124 303 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2820396 2820396 + Silent SNP C C A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr16:2820396C>A ENST00000301740.8 + 13 8614 c.8065C>A c.(8065-8067)Cgg>Agg p.R2689R NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2689 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 CAGGGACTCTCGGTCCCTCAG 0.647000 14 13 2.23348e-06 2.25803e-06 1 1 0 PLEC 5339 broad.mit.edu 37 8 144995970 144995970 + Silent SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr8:144995970C>T ENST00000322810.4 - 32 8599 c.8430G>A c.(8428-8430)gcG>gcA p.A2810A PLEC_ENST00000354958.2_Silent_p.A2651A|PLEC_ENST00000527096.1_Silent_p.A2696A|PLEC_ENST00000356346.3_Silent_p.A2659A|PLEC_ENST00000436759.2_Silent_p.A2700A|PLEC_ENST00000398774.2_Silent_p.A2641A|PLEC_ENST00000354589.3_Silent_p.A2673A|PLEC_ENST00000345136.3_Silent_p.A2673A|PLEC_ENST00000357649.2_Silent_p.A2677A NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 2810 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGTGGCCCTGCGCCAACCGCT 0.682000 42 37 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82816827 82816827 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr5:82816827C>T ENST00000265077.3 + 7 3267 c.2702C>T c.(2701-2703)aCa>aTa p.T901I VCAN_ENST00000342785.4_Missense_Mutation_p.T901I|VCAN_ENST00000512590.2_Missense_Mutation_p.T853I|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 901 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) AGAGATTCTACAACTGAAGAA 0.408000 67 64 0 0 1 0 0 RUSC1 23623 broad.mit.edu 37 1 155296536 155296536 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr1:155296536C>T ENST00000368352.5 + 8 2178 c.2027C>T c.(2026-2028)cCt>cTt p.P676L RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368347.4_Missense_Mutation_p.P266L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000292254.4_Missense_Mutation_p.P207L|RUSC1_ENST00000368349.4_Missense_Mutation_p.P207L NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 676 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) CTGGGCCCACCTCAGGCCCCT 0.657000 69 99 0 0 1 0 0 PLXNA3 55558 broad.mit.edu 37 X 153693430 153693430 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chrX:153693430C>T ENST00000369682.3 + 11 2288 c.2113C>T c.(2113-2115)Cgg>Tgg p.R705W NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 705 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCTTACCTTGCGGGCTAAGAA 0.647000 26 0 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138575103 138575103 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr6:138575103G>A ENST00000251691.4 + 9 918 c.752G>A c.(751-753)cGc>cAc p.R251H NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 251 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) CTGCACAGGCGCTTCACGGAC 0.612000 5 9 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38942436 38942436 + Silent SNP C C T rs144658230 TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr19:38942436C>T ENST00000355481.4 + 12 1286 c.1155C>T c.(1153-1155)gaC>gaT p.D385D RYR1_ENST00000360985.3_Silent_p.D385D|RYR1_ENST00000359596.3_Silent_p.D385D NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 385 MIR 5. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) ACATGGACGACGCACTGTCGC 0.632000 45 106 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137701113 137701113 + Missense_Mutation SNP C C A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr9:137701113C>A ENST00000371817.3 + 43 3865 c.3451C>A c.(3451-3453)Ccc>Acc p.P1151T NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 1151 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCCTGTGGGTCCCCCTGGAGA 0.632000 4 8 0.00909568 0.00909568 1 1 0 PRRC2B 84726 broad.mit.edu 37 9 134353210 134353210 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr9:134353210G>A ENST00000357304.4 + 16 4541 c.4486G>A c.(4486-4488)Gca>Aca p.A1496T PRRC2B_ENST00000458550.1_Missense_Mutation_p.A802T|PRRC2B_ENST00000405995.1_Missense_Mutation_p.A802T|PRRC2B_ENST00000372249.1_5'UTR NM_013318.3 NP_037450.2 Q5JSZ5 PRC2B_HUMAN proline-rich coiled-coil 2B 1496 protein binding cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2) 44 CCTGGAGCGGGCAGCCCATGC 0.607000 19 10 0 0 1 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95514963 95514963 + RNA SNP G G A rs114749649 by1000genomes TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr2:95514963G>A ENST00000432432.2 - 0 694 NR_040113.1 GCCTATCAACGGCATGTGTAC 0.328000 5 198 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890331 139890331 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr8:139890331C>T ENST00000303045.6 - 3 766 c.320G>A c.(319-321)cGt>cAt p.R107H COL22A1_ENST00000435777.1_Missense_Mutation_p.R107H NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 107 VWFA. cell adhesion collagen|cytoplasm structural molecule activity p.R107H(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GTAGGCGAGACGCCGGGCAGC 0.721000 HNSCC(7;0.00092) 5 6 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172579290 172579290 + Missense_Mutation SNP T T G TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr1:172579290T>G ENST00000367723.3 + 23 4236 c.4112T>G c.(4111-4113)cTa>cGa p.L1371R SUCO_ENST00000263688.3_Missense_Mutation_p.L1219R NM_016227.2 NP_057311.2 SUN domain containing ossification factor ATAAAAACTCTAATACAGACT 0.418000 19 27 0 0 1 0 0 GRM4 2914 broad.mit.edu 37 6 34004320 34004320 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr6:34004320G>A ENST00000374181.3 - 8 1736 c.1567C>T c.(1567-1569)Ccc>Tcc p.P523S GRM4_ENST00000455714.2_Missense_Mutation_p.P383S|GRM4_ENST00000538487.1_Missense_Mutation_p.P523S|GRM4_ENST00000544773.1_Missense_Mutation_p.P354S|GRM4_ENST00000535756.1_Missense_Mutation_p.P390S|GRM4_ENST00000374177.3_Missense_Mutation_p.P407S|GRM4_ENST00000545715.1_Missense_Mutation_p.P215S NM_001256810.1 NP_001243739.1 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 523 activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 L-Glutamic Acid(DB00142) GGTTGGCAGGGCAGGCTGCAG 0.632000 35 36 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1102176 1102176 + Silent SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr11:1102176C>T ENST00000441003.2 + 44 7839 c.7812C>T c.(7810-7812)caC>caT p.H2604H NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 4966 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCTGCACCCACGTGCCCTGCA 0.617000 42 46 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077575 19077575 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr11:19077575G>A ENST00000329773.2 - 2 462 c.375C>T c.(373-375)acC>acT p.T125T NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 125 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 GGCAGCGCTCGGTGCTGACGG 0.602000 41 64 0 0 1 0 0 OR2T34 127068 broad.mit.edu 37 1 248737288 248737288 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr1:248737288G>A ENST00000328782.2 - 1 792 c.771C>T c.(769-771)ttC>ttT p.F257F NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGAAGCACCGAAGAGCAGCA 0.557000 35 48 0 0 1 0 0 VRK2 7444 broad.mit.edu 37 2 58358955 58358955 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr2:58358955G>A ENST00000435505.2 + 12 1434 c.689G>A c.(688-690)cGa>cAa p.R230Q VRK2_ENST00000340157.4_Missense_Mutation_p.R230Q|VRK2_ENST00000440705.2_Missense_Mutation_p.R207Q|VRK2_ENST00000417641.2_Missense_Mutation_p.R230Q|VRK2_ENST00000412104.2_Missense_Mutation_p.R230Q Q86Y07 VRK2_HUMAN vaccinia related kinase 2 230 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 24 TTGTCCAGACGAAGTGACGTT 0.478000 33 39 0 0 1 0 0 UGT1A7 0 broad.mit.edu 37 2 234590757 234590757 + Silent SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr2:234590757C>T ENST00000373426.3 + 1 174 c.174C>T c.(172-174)gtC>gtT p.V58V UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron NM_019077.2 NP_061950.2 NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1) 33 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGGTCGTAGTCATGCCAGAGG 0.547000 70 84 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233150466 233150466 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr1:233150466G>A ENST00000258229.8 - 28 5131 c.4897C>T c.(4897-4899)Ctg>Ttg p.L1633L PCNXL2_ENST00000344698.2_Silent_p.L285L NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1633 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) AGGGTGCACAGGGCGAAGGAC 0.542000 32 63 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38329071 38329071 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr22:38329071C>T ENST00000215957.6 + 13 2386 c.2260C>T c.(2260-2262)Cgc>Tgc p.R754C MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 754 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) CCTGGAGCAGCGCCAGGCTGA 0.612000 39 64 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93796832 93796832 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr11:93796832G>A ENST00000315765.9 + 3 582 c.574G>A c.(574-576)Gcc>Acc p.A192T NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 192 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GCACATCGACGCCCCAAAGGA 0.522000 58 71 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70972973 70972973 + Missense_Mutation SNP C C T rs148011193 TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr6:70972973C>T ENST00000357250.6 - 19 1527 c.1369G>A c.(1369-1371)Gga>Aga p.G457R COL9A1_ENST00000370499.4_Missense_Mutation_p.G214R|COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.G214R NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 457 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 CCAACTTCTCCGAGTTCTCCC 0.323000 6 13 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G G T rs139236063 TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr7:55233043G>T ENST00000275493.2 + 15 1970 c.1793G>T c.(1792-1794)gGa>gTa p.G598V EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 598 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(15) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 5079 207 0 0 1 1 0 ASIC4 55515 broad.mit.edu 37 2 220379714 220379714 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr2:220379714C>T ENST00000358078.4 + 1 663 c.649C>T c.(649-651)Cgg>Tgg p.R217W ASIC4_ENST00000347842.3_Missense_Mutation_p.R217W|AC053503.11_ENST00000429882.1_RNA Q96FT7 ACCN4_HUMAN acid-sensing (proton-gated) ion channel family member 4 217 integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity TGGCCTGGCCCGGGGCTACCT 0.701000 23 30 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39364519 39364519 + Silent SNP T T A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr5:39364519T>A ENST00000263408.4 - 1 143 c.48A>T c.(46-48)atA>atT p.I16I C9_ENST00000509186.1_Intron NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 16 complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) TGAGGATGCTTATTTCTAAAA 0.512000 7 18 0 0 1 0 0 ZNF732 654254 broad.mit.edu 37 4 265912 265912 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr4:265912G>A ENST00000419098.1 - 4 744 c.734C>T c.(733-735)aCt>aTt p.T245I NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 245 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 TTTCTCTCCAGTATGAACTTT 0.368000 6 18 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54849686 54849686 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr19:54849686G>A ENST00000291759.4 - 3 392 c.336C>T c.(334-336)ccC>ccT p.P112P NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 112 Ig-like C2-type 1. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CCAGCTCCAGGGGGTCGCTGG 0.617000 30 71 0 0 1 0 0 SLC5A4 6527 broad.mit.edu 37 22 32643471 32643471 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr22:32643471C>T ENST00000266086.4 - 5 415 c.404G>A c.(403-405)cGg>cAg p.R135Q RP1-90G24.10_ENST00000434942.1_RNA NM_014227.2 NP_055042.1 Q9NY91 SC5A4_HUMAN solute carrier family 5 (glucose activated ion channel), member 4 135 carbohydrate transport|sodium ion transport integral to membrane symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 CCCACCAAACCGCTTCTTGAG 0.488000 20 34 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62294254 62294254 + Silent SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr11:62294254C>T ENST00000378024.4 - 5 7909 c.7635G>A c.(7633-7635)aaG>aaA p.K2545K AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2545 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CAATGTCCACCTTGGGTCCTG 0.483000 4 170 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7635288 7635288 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr12:7635288G>A ENST00000359156.4 - 14 3400 c.3198C>T c.(3196-3198)gtC>gtT p.V1066V CD163_ENST00000432237.2_Silent_p.V1066V|CD163_ENST00000541972.1_Silent_p.V1054V|CD163_ENST00000396620.3_Silent_p.V1099V NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1066 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AGAATAATGCGACGAAAATGG 0.423000 59 72 0 0 1 0 0 ZNF763 284390 broad.mit.edu 37 19 12089769 12089769 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr19:12089769G>A ENST00000343949.5 + 4 1194 c.1039G>A c.(1039-1041)Gaa>Aaa p.E347K ZNF763_ENST00000538752.1_Missense_Mutation_p.E364K|ZNF763_ENST00000545530.1_Missense_Mutation_p.E222K|ZNF763_ENST00000590798.1_Missense_Mutation_p.E364K|ZNF763_ENST00000358987.3_Missense_Mutation_p.E344K NM_001012753.1 NP_001012771.1 zinc finger protein 763 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9) 15 TCAATGTAAGGAATGTAGAAA 0.413000 57 119 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46914994 46914994 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr19:46914994G>A ENST00000307522.3 - 1 1847 c.1074C>T c.(1072-1074)aaC>aaT p.N358N NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 358 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) CTTCCCTCTGGTTATCTGCAG 0.587000 5 407 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR 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 4 26 0 0 1 0 0 C16orf45 89927 broad.mit.edu 37 16 15609218 15609218 + Missense_Mutation SNP C C A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr16:15609218C>A ENST00000300006.4 + 2 522 c.163C>A c.(163-165)Ctg>Atg p.L55M C16orf45_ENST00000452191.2_Missense_Mutation_p.L38M|C16orf45_ENST00000566490.1_Missense_Mutation_p.L55M|C16orf45_ENST00000561692.1_Missense_Mutation_p.L7M NM_033201.2 NP_149978.1 Q96MC5 CP045_HUMAN chromosome 16 open reading frame 45 55 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1) 11 GGAGATTGAGCTGGAGATGGC 0.532000 24 35 6.21321e-17 6.64669e-17 1 1 0 FAM43A 131583 broad.mit.edu 37 3 194408803 194408803 + Silent SNP T T C TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr3:194408803T>C ENST00000329759.4 + 1 2182 c.1248T>C c.(1246-1248)agT>agC p.S416S NM_153690.4 NP_710157.2 Q8N2R8 FA43A_HUMAN family with sequence similarity 43, member A 416 breast(2)|central_nervous_system(1)|lung(6)|skin(1) 10 all_cancers(143;2.04e-08)|Ovarian(172;0.0634) Lung NSC(153;0.147) OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.78e-05) ACGGCGCCAGTGCAGACGAGC 0.751000 7 6 0 0 1 0 0 HOXA6 3203 broad.mit.edu 37 7 27187208 27187208 + Nonsense_Mutation SNP G G T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr7:27187208G>T ENST00000222728.3 - 1 185 c.161C>A c.(160-162)tCa>tAa p.S54* HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521231.1_RNA|HOXA6_ENST00000521478.1_Intron|HOXA3_ENST00000467897.2_Intron NM_024014.3 NP_076919.1 P31267 HXA6_HUMAN homeobox A6 54 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1) 10 GAAACAAGGTGAGGTGTACGT 0.612000 34 92 9.65963e-10 9.98524e-10 1 1 0 PCLO 27445 broad.mit.edu 37 7 82582077 82582077 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr7:82582077C>T ENST00000423517.2 - 5 8529 c.8192G>A c.(8191-8193)cGt>cAt p.R2731H PCLO_ENST00000333891.8_Missense_Mutation_p.R2731H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 2662 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGGTACTGTACGCAAATCAAT 0.353000 9 21 0 0 1 0 0 SLC1A6 6511 broad.mit.edu 37 19 15063753 15063753 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr19:15063753C>T ENST00000430939.2 - 8 1423 c.1294G>A c.(1294-1296)Gtg>Atg p.V432M SLC1A6_ENST00000221742.3_Missense_Mutation_p.V496M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V418M P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 496 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) AACCAGTCCACGGCAATGATG 0.582000 71 127 0 0 1 0 0 SMAP1 60682 broad.mit.edu 37 6 71501425 71501425 + Missense_Mutation SNP G G T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr6:71501425G>T ENST00000370455.3 + 5 696 c.448G>T c.(448-450)Gta>Tta p.V150L SMAP1_ENST00000370452.3_Intron|SMAP1_ENST00000316999.5_Intron NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 150 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 TCAGCCTTTGGTATCCTCTCC 0.393000 46 59 7.77372e-23 8.61666e-23 1 1 0 OR5R1 219479 broad.mit.edu 37 11 56185615 56185615 + Silent SNP A A G TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr11:56185615A>G ENST00000312253.1 - 1 93 c.94T>C c.(94-96)Tta>Cta p.L32L NM_001004744.1 NP_001004744.1 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, member 1 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) TAGATAACTAAAAACACCCCA 0.418000 55 67 0 0 1 0 0 GDF6 392255 broad.mit.edu 37 8 97156959 97156959 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr8:97156959G>A ENST00000287020.5 - 2 1299 c.1200C>T c.(1198-1200)caC>caT p.H400H NM_001001557.2 NP_001001557.1 Q6KF10 GDF6_HUMAN growth differentiation factor 6 400 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) GGATGATGGCGTGGTTGGTGG 0.617000 3 45 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118516183 118516183 + Splice_Site SNP T T C TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr1:118516183T>C ENST00000336338.5 - 44 6071 c.6004_splice c.e44-1 p.E2002_splice SPAG17_ENST00000492438.1_5'UTR NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 2002 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AAGATTCTGCTTCTGTTAGAG 0.378000 43 43 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538939 55538939 + Missense_Mutation SNP T T A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr8:55538939T>A ENST00000220676.1 + 4 2645 c.2497T>A c.(2497-2499)Ttt>Att p.F833I NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 833 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACCCAAAGATTTTTATGCACC 0.323000 12 20 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110234444 110234444 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr12:110234444G>A ENST00000418703.2 - 6 1312 c.1218C>T c.(1216-1218)ttC>ttT p.F406F TRPV4_ENST00000392719.2_Silent_p.F359F|TRPV4_ENST00000541794.1_Silent_p.F359F|TRPV4_ENST00000261740.2_Silent_p.F406F|TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000536838.1_Silent_p.F372F NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 406 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CCCAGTCCTTGAACTTGCGGG 0.607000 37 51 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248637422 248637422 + Silent SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr1:248637422C>T ENST00000359594.2 + 1 796 c.771C>T c.(769-771)ttC>ttT p.F257F NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGCTGCTCTTCGGTGCTTCCT 0.552000 41 302 0 0 1 0 0 AGBL1 123624 broad.mit.edu 37 15 86940603 86940603 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr15:86940603G>A ENST00000441037.2 + 17 2338 c.2243G>A c.(2242-2244)cGt>cAt p.R748H AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H|AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 748 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 GCAGGACATCGTCCATATCAG 0.403000 18 28 0 0 1 0 0 CCDC108 255101 broad.mit.edu 37 2 219893020 219893020 + Missense_Mutation SNP C C T rs147414922 TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr2:219893020C>T ENST00000341552.5 - 12 1837 c.1754G>A c.(1753-1755)cGg>cAg p.R585Q CCDC108_ENST00000453220.1_Missense_Mutation_p.R585Q|CCDC108_ENST00000441968.1_Missense_Mutation_p.R585Q|CCDC108_ENST00000409865.3_Missense_Mutation_p.R574Q|CCDC108_ENST00000410037.1_Missense_Mutation_p.R520Q NM_194302.2 NP_919278.2 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 585 integral to membrane structural molecule activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGTCAGGCCCCGGGCCAGGTG 0.617000 65 76 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109400287 109400287 + Missense_Mutation SNP T T C TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr2:109400287T>C ENST00000283195.6 + 29 9731 c.9605T>C c.(9604-9606)aTt>aCt p.I3202T NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 3202 PPIase cyclophilin-type. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 GTGAAAAAGATTGAATCATTT 0.328000 29 39 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946336 16946336 + RNA SNP G G A rs11586784 by1000genomes TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr1:16946336G>A ENST00000412962.1 - 0 1183 CAGGGCTCACGAACCTGCTGC 0.662000 4 28 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31576337 31576337 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr14:31576337G>A ENST00000399332.1 - 38 7229 c.6741C>T c.(6739-6741)ttC>ttT p.F2247F HECTD1_ENST00000553700.1_Silent_p.F2247F NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 2247 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) AAATTCCAAGGAAATGAAACA 0.378000 41 57 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540471 169540471 + Silent SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr3:169540471C>T ENST00000340806.6 + 1 762 c.762C>T c.(760-762)gcC>gcT p.A254A NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 254 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 AGAGCTTCGCCGAGCTCAGGA 0.602000 21 35 0 0 1 0 0 SOX17 64321 broad.mit.edu 37 8 55370804 55370804 + Silent SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr8:55370804C>T ENST00000297316.4 + 1 310 c.106C>T c.(106-108)Ctg>Ttg p.L36L NM_022454.3 NP_071899.1 Q9H6I2 SOX17_HUMAN SRY (sex determining region Y)-box 17 36 angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway transcription factor complex beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1) 18 Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159) GGCCGAGTCGCTGAGCCCCAT 0.746000 9 17 0 0 1 0 0 C19orf43 79002 broad.mit.edu 37 19 12841862 12841862 + Silent SNP G G A rs116718949 byFrequency TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr19:12841862G>A ENST00000242784.4 - 3 561 c.444C>T c.(442-444)gaC>gaT p.D148D C19orf43_ENST00000588213.1_3'UTR|C19orf43_ENST00000592273.1_Silent_p.D122D NM_024038.2 NP_076943.1 Q9BQ61 CS043_HUMAN chromosome 19 open reading frame 43 148 endometrium(2)|large_intestine(2) 4 TGGCCCACGCGTCACCTTTAC 0.557000 40 88 0 0 1 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19716359 19716359 + Missense_Mutation SNP G G T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr21:19716359G>T ENST00000284885.3 - 11 1223 c.1190C>A c.(1189-1191)cCa>cAa p.P397Q NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 397 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TGGTCCAGTTGGGGTAGAAAT 0.398000 72 73 9.07738e-34 1.01844e-33 1 1 0 GPR98 84059 broad.mit.edu 37 5 89933730 89933730 + Silent SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr5:89933730G>A ENST00000405460.2 + 11 2301 c.2205G>A c.(2203-2205)ccG>ccA p.P735P NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 735 Calx-beta 5. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATGACATACCGGAAATGAATG 0.353000 23 33 0 0 1 0 0 IREB2 3658 broad.mit.edu 37 15 78730692 78730692 + Missense_Mutation SNP A A G TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr15:78730692A>G ENST00000258886.8 + 1 162 c.13A>G c.(13-15)Aaa>Gaa p.K5E IREB2_ENST00000560440.1_Missense_Mutation_p.K5E NM_004136.2 NP_004127.1 P48200 IREB2_HUMAN iron-responsive element binding protein 2 5 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) GGACGCCCCAAAAGCAGGTCA 0.662000 6 8 0 0 1 0 0 FBN2 2201 broad.mit.edu 37 5 127800539 127800539 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr5:127800539G>A ENST00000508053.1 - 12 1678 c.704C>T c.(703-705)aCg>aTg p.T235M FBN2_ENST00000262464.4_Missense_Mutation_p.T235M|FBN2_ENST00000508989.1_Missense_Mutation_p.T202M P35556 FBN2_HUMAN fibrillin 2 235 TB 1. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CAGAGTCTTCGTGCAGACAAT 0.577000 37 59 0 0 1 0 0 TEX13A 56157 broad.mit.edu 37 X 104464686 104464686 + Silent SNP G G T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chrX:104464686G>T ENST00000372578.3 - 2 507 c.396C>A c.(394-396)gcC>gcA p.A132A IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Silent_p.A132A|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Silent_p.A132A NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 132 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 GGCTGGTCTGGGCCATTCTTA 0.592000 17 0 3.51602e-12 3.67584e-12 1 1 0 ADAMTS15 170689 broad.mit.edu 37 11 130340895 130340895 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr11:130340895G>A ENST00000299164.2 + 6 1801 c.1801G>A c.(1801-1803)Gtg>Atg p.V601M NM_139055.2 NP_620686.1 Q8TE58 ATS15_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 15 601 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CACTCTCGCCGTGGCATGGGT 0.597000 89 116 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10267760 10267760 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr17:10267760G>A ENST00000418404.3 - 2 251 c.88C>T c.(88-90)Cgt>Tgt p.R30C MYH13_ENST00000252172.4_Missense_Mutation_p.R30C|MYH13_ENST00000570743.1_Missense_Mutation_p.R30C Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 30 Myosin head-like. 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 TCGAATGGACGATTTTGAGCC 0.463000 9 8 0 0 1 0 0 CSNK1A1P1 0 broad.mit.edu 37 15 37109983 37109983 + RNA SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr15:37109983G>A ENST00000430593.3 - 0 677 NR_027320.1 CAATTCTACTGATCATCTGGT 0.383000 11 21 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7812221 7812221 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr19:7812221C>T ENST00000315599.7 - 2 99 c.77G>A c.(76-78)cGa>cAa p.R26Q CD209_ENST00000593821.1_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R26Q|CD209_ENST00000354397.6_Missense_Mutation_p.R26Q|CD209_ENST00000394161.5_Missense_Mutation_p.R26Q|CD209_ENST00000394173.4_Missense_Mutation_p.R26Q|CD209_ENST00000204801.8_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R26Q|CD209_ENST00000301357.8_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.R26Q|CD209_ENST00000315591.8_Missense_Mutation_p.R26Q|CD209_ENST00000601256.1_Missense_Mutation_p.R26Q NM_001144895.1|NM_001144897.1|NM_021155.3 NP_001138367.1|NP_001138369.1|NP_066978.1 Q9NNX6 CD209_HUMAN CD209 molecule 26 cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCGAGTCTGTCGGAATCCAAG 0.572000 230 567 0 0 1 0 0 CERKL 0 broad.mit.edu 37 2 182468728 182468728 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr2:182468728C>T ENST00000410087.3 - 2 417 c.317G>A c.(316-318)cGt>cAt p.R106H CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000374970.2_Missense_Mutation_p.R106H|CERKL_ENST00000339098.5_Missense_Mutation_p.R106H|CERKL_ENST00000409440.3_Missense_Mutation_p.R106H|CERKL_ENST00000374969.2_Missense_Mutation_p.R106H NM_001030311.2|NM_201548.4 NP_001025482.1|NP_963842.1 Q49MI3 CERKL_HUMAN ceramide kinase-like 106 R -> S (in RP26). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis endoplasmic reticulum|Golgi apparatus|nucleolus diacylglycerol kinase activity p.R106H(2) NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3) 32 OV - Ovarian serous cystadenocarcinoma(117;0.088) AACAGAACAACGCCGTTTCAG 0.313000 7 17 0 0 1 0 0 GAL3ST4 79690 broad.mit.edu 37 7 99758141 99758141 + Missense_Mutation SNP G G T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr7:99758141G>T ENST00000360039.4 - 4 1263 c.871C>A c.(871-873)Ctg>Atg p.L291M GAL3ST4_ENST00000411994.1_Silent_p.V189V|GAL3ST4_ENST00000423751.1_Silent_p.V189V|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.L229M|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.L291M NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 291 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCCATGCCAGACCCCACTGG 0.527000 64 171 1.35869e-18 1.48808e-18 1 1 0 TOLLIP 54472 broad.mit.edu 37 11 1298448 1298448 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr11:1298448C>T ENST00000527886.1 - 6 819 c.439G>A c.(439-441)Gtg>Atg p.V147M TOLLIP_ENST00000542915.1_Missense_Mutation_p.V166M|TOLLIP_ENST00000527938.1_Silent_p.P73P|TOLLIP_ENST00000317204.6_Missense_Mutation_p.V216M|TOLLIP_ENST00000263646.7_Missense_Mutation_p.V188M|TOLLIP_ENST00000525159.1_Missense_Mutation_p.V155M Q9H0E2 TOLIP_HUMAN toll interacting protein 216 cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex kinase binding|signal transducer activity|Toll-like receptor binding large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 6 all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107) GGCAGGGCCACGGGCACCATG 0.607000 53 47 0 0 1 0 0 ZNF215 7762 broad.mit.edu 37 11 6953559 6953559 + Missense_Mutation SNP G G A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr11:6953559G>A ENST00000278319.5 + 3 644 c.56G>A c.(55-57)cGt>cAt p.R19H ZNF215_ENST00000529903.1_Missense_Mutation_p.R19H|ZNF215_ENST00000414517.2_Missense_Mutation_p.R19H|ZNF215_ENST00000527171.1_3'UTR NM_013250.2 NP_037382.2 Q9UL58 ZN215_HUMAN zinc finger protein 215 19 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4) 32 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) CTGTCTCTACGTGAACAAAGA 0.473000 48 57 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103163890 103163890 + Missense_Mutation SNP C C T rs150236371 byFrequency TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr7:103163890C>T ENST00000428762.1 - 47 7597 c.7438G>A c.(7438-7440)Ggc>Agc p.G2480S RELN_ENST00000343529.5_Missense_Mutation_p.G2480S|RELN_ENST00000424685.2_Missense_Mutation_p.G2480S NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2480 EGF-like 6. axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TCTATGCAGCCATCCCCGATA 0.473000 61 150 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5529965 5529965 + Missense_Mutation SNP C C T TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr11:5529965C>T ENST00000311659.4 - 2 971 c.824G>A c.(823-825)gGc>gAc p.G275D HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 275 NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AAAGGGATTGCCGCCAAACTG 0.512000 4 182 0 0 1 0 0 SUSD3 203328 broad.mit.edu 37 9 95838087 95838087 + Frame_Shift_Del DEL T T - TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr9:95838087delT ENST00000375472.3 + 2 146 c.110delT c.(109-111)cafs p.L37fs SUSD3_ENST00000375469.1_Frame_Shift_Del_p.L24fs NM_145006.2 NP_659443.1 Q96L08 SUSD3_HUMAN sushi domain containing 3 37 Sushi. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2) 13 AAGCTGCGGCTACCCCCGCAA 0.677 23 54 --- --- --- --- KLHDC1 122773 broad.mit.edu 37 14 50206884 50206885 + Frame_Shift_Ins INS - - A TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr14:50206884_50206885insA ENST00000359332.2 + 11 1055_1056 c.965_966insA c.(964-966)tctfs p.S322fs KLHDC1_ENST00000554512.1_3'UTR NM_172193.2 NP_751943.1 Q8N7A1 KLDC1_HUMAN kelch domain containing 1 322 cytoplasm kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 12 all_epithelial(31;0.00244)|Breast(41;0.00964) AAAGATGACTTACTTGCCTTGG 0.332 18 23 --- --- --- --- SDK2 54549 broad.mit.edu 37 17 71344740 71344741 + Frame_Shift_Del DEL GA GA - TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr17:71344740_71344741delGA ENST00000392650.3 - 44 6162_6163 c.6162_6163delTC c.(6160-6165)tcagfs p.SQ2054fs SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Frame_Shift_Del_p.SQ2035fs NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 2054 cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 GCCCTCACCTGAGAGTCGGAGA 0.594 12 23 --- --- --- --- KCNG2 26251 broad.mit.edu 37 18 77623691 77623692 + In_Frame_Ins INS - - GGC rs71338073 TCGA-FG-A4MU-01B-11D-A289-08 TCGA-FG-A4MU-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17bade4e-8b65-42e3-932f-d50716d0d833 fa64db97-5a09-43a5-8ef3-4671ca970e4b g.chr18:77623691_77623692insGGC ENST00000316249.3 + 1 24_25 c.24_25insGGC c.(22-27)ccgcgg>ccGGCgcgg p.8_9PR>PAR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 8 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity p.P8_G9insG(2) breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCTGCTccccgggcggcggcgg 0.772 5 5 --- --- --- ---