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 MTHFD2 10797 broad.mit.edu 37 2 74432845 74432845 + Missense_Mutation SNP G G T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr2:74432845G>T ENST00000394053.2 + 2 195 c.115G>T c.(115-117)Gtc>Ttc p.V39F MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000394050.3_Intron|MTHFD2_ENST00000409601.1_Missense_Mutation_p.V39F|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409804.1_Missense_Mutation_p.V39F NM_006636.3 NP_006627.2 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase 39 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding p.V39F(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 NADH(DB00157)|Tetrahydrofolic acid(DB00116) TGAAGCTGTTGTCATTTCTGG 0.468000 8 51 0.00307968 0.00327966 0.038147 1 0 DSP 1832 broad.mit.edu 37 6 7579653 7579653 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:7579653C>T ENST00000379802.3 + 23 3571 c.3230C>T c.(3229-3231)gCg>gTg p.A1077V DSP_ENST00000418664.2_Missense_Mutation_p.A1077V NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 1077 Central fibrous rod domain. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton p.A1077V(1) biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GCGAAGCTTGCGAGCCTGGAG 0.483000 4 134 0 0 0.009096 0 0 BRF1 2972 broad.mit.edu 37 14 105685542 105685542 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr14:105685542C>T ENST00000546474.1 - 13 16364 c.1405G>A c.(1405-1407)Gtg>Atg p.V469M BRF1_ENST00000547530.1_De_novo_Start_InFrame|BRF1_ENST00000440513.3_Missense_Mutation_p.V376M|BRF1_ENST00000327359.3_Missense_Mutation_p.V354M|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000446501.2_Missense_Mutation_p.V231M|BRF1_ENST00000379937.2_Missense_Mutation_p.V442M|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000392557.4_Missense_Mutation_p.V265M NM_001242787.1|NM_001519.3 NP_001229716.1|NP_001510.2 Q92994 TF3B_HUMAN BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit 469 positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription transcription factor TFIIIB complex translation initiation factor activity|zinc ion binding p.V469L(1)|p.V469M(1)|p.V376L(1)|p.V376M(1) NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221) Epithelial(152;0.14) TCGGCCTTCACGCGGGCTTCC 0.642000 52 128 0 0 0.139131 0 0 MMRN1 22915 broad.mit.edu 37 4 90857417 90857417 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:90857417G>A ENST00000394980.1 + 7 2905 c.2586G>A c.(2584-2586)ttG>ttA p.L862L MMRN1_ENST00000264790.2_Silent_p.L862L|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Silent_p.L604L Q13201 MMRN1_HUMAN multimerin 1 862 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen p.L862L(1) breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) AGACTCGGTTGCAAGACATTG 0.358000 6 26 0 0 0.021553 0 0 DLX6 1750 broad.mit.edu 37 7 96636997 96636997 + Missense_Mutation SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr7:96636997G>A ENST00000518156.2 + 2 914 c.484G>A c.(484-486)Gga>Aga p.G162R DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6_ENST00000555308.1_Missense_Mutation_p.G34R|DLX6_ENST00000007660.5_Missense_Mutation_p.G134R|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000452769.2_RNA P56179 DLX6_HUMAN distal-less homeobox 6 44 nervous system development|skeletal system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.G134R(1) central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1) 12 all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858) CAGGTTCAATGGAAAAGGGAA 0.478000 6 21 0 0 0.029380 0 0 MUC16 94025 broad.mit.edu 37 19 9045585 9045585 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr19:9045585C>T ENST00000397910.4 - 5 36249 c.36046G>A c.(36046-36048)Gag>Aag p.E12016K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12018 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.E12016K(1)|p.E7649K(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTCACACTCTCAGAGGCCAAG 0.398000 18 15 0 0 0.038395 0 0 WDR90 197335 broad.mit.edu 37 16 703599 703599 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr16:703599G>A ENST00000549091.1 + 12 1400 c.1308G>A c.(1306-1308)cgG>cgA p.R436R WDR90_ENST00000293879.4_Silent_p.R436R NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 436 p.R436R(1) endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) GTGTGATGCGGCTCTGGGACT 0.657000 50 59 0 0 0.139131 0 0 PTPRT 11122 broad.mit.edu 37 20 40735463 40735463 + Missense_Mutation SNP T T G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr20:40735463T>G ENST00000373198.4 - 25 3645 c.3410A>C c.(3409-3411)gAg>gCg p.E1137A PTPRT_ENST00000373193.3_Missense_Mutation_p.E1121A|PTPRT_ENST00000356100.2_Missense_Mutation_p.E1127A|PTPRT_ENST00000373184.1_Missense_Mutation_p.E1128A|PTPRT_ENST00000373190.1_Missense_Mutation_p.E1117A|PTPRT_ENST00000373187.1_Missense_Mutation_p.E1118A|PTPRT_ENST00000373201.1_Missense_Mutation_p.E1108A NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T Tyrosine-protein phosphatase 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.E1140A(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GGCCCGGAGCTCACGCACGCA 0.577000 76 191 0 0 0.139131 0 0 NLRP3 114548 broad.mit.edu 37 1 247587530 247587530 + Missense_Mutation SNP G G T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:247587530G>T ENST00000366497.2 + 4 1565 c.785G>T c.(784-786)cGa>cTa p.R262L NLRP3_ENST00000366496.2_Missense_Mutation_p.R262L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.R262L|NLRP3_ENST00000391827.2_Missense_Mutation_p.R262L|NLRP3_ENST00000391828.3_Missense_Mutation_p.R262L|NLRP3_ENST00000348069.2_Missense_Mutation_p.R262L NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 262 NACHT. R -> L (in CINCA).|R -> P (in CINCA).|R -> W (in FCAS1 and MWS). detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.R262L(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) ATCCACTGTCGAGAGGTGAGC 0.547000 10 157 1.08611e-07 1.22001e-07 0.080935 1 0 ZSCAN12P1 221584 broad.mit.edu 37 6 28060389 28060389 + RNA SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:28060389C>T ENST00000529104.1 + 0 604 NR_024063.2 CCAGGAGACACCTGGACCCTG 0.517000 3 2 0 0 0.115264 0 0 MUC4 4585 broad.mit.edu 37 3 195505836 195505836 + Missense_Mutation SNP G G C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr3:195505836G>C ENST00000463781.3 - 2 13074 c.12615C>G c.(12613-12615)caC>caG p.H4205Q MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 968 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.H4205Q(10) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGGGTGGCGTGACCTGTGG 0.597000 4 5 0 0 0.009096 0 0 CFB 629 broad.mit.edu 37 6 31901504 31901504 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:31901504C>T ENST00000456570.1 + 3 429 c.374C>T c.(373-375)tCg>tTg p.S125L C2_ENST00000442278.2_Missense_Mutation_p.S55L|C2_ENST00000418949.2_Missense_Mutation_p.S187L|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.S187L|C2_ENST00000452323.2_Missense_Mutation_p.S64L|CFB_ENST00000556679.1_Missense_Mutation_p.S125L|C2_ENST00000469372.1_Missense_Mutation_p.R19W P00751 CFAB_HUMAN complement factor B 201 Sushi 2. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity p.S187L(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 ACGGGGTCTTCGGAGCGGGAG 0.647000 63 74 0 0 0.139131 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 6 73 0 0 0.021553 0 0 ZSWIM8 23053 broad.mit.edu 37 10 75548921 75548921 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr10:75548921C>T ENST00000604729.1 + 3 727 c.430C>T c.(430-432)Cgg>Tgg p.R144W ZSWIM8_ENST00000605216.1_Missense_Mutation_p.R144W|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.R144W|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.R144W|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.R144W zinc finger, SWIM-type containing 8 p.R144W(4) CTTCCGCATGCGGGCTGTGAA 0.572000 4 117 0 0 0.009096 0 0 RASSF8 11228 broad.mit.edu 37 12 26217667 26217667 + Missense_Mutation SNP C C A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr12:26217667C>A ENST00000405154.2 + 3 539 c.340C>A c.(340-342)Cct>Act p.P114T RASSF8_ENST00000282884.9_Missense_Mutation_p.P114T|RASSF8_ENST00000541490.1_Missense_Mutation_p.P114T|RASSF8_ENST00000542865.1_Missense_Mutation_p.P114T|RASSF8_ENST00000381352.3_Missense_Mutation_p.P114T NM_001164748.1 NP_001158220.1 Q8NHQ8 RASF8_HUMAN Ras association (RalGDS/AF-6) domain family (N-terminal) member 8 114 signal transduction p.P114T(2) cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1) 25 Colorectal(261;0.0847) TAAACTGAGGCCTCAGATTGA 0.458000 39 109 3.09479e-21 3.67786e-21 0.092188 1 0 LRIF1 55791 broad.mit.edu 37 1 111495013 111495013 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:111495013C>T ENST00000369763.4 - 2 883 c.493G>A c.(493-495)Gtt>Att p.V165I LRIF1_ENST00000485275.2_Intron|LRIF1_ENST00000494675.1_Intron|RP11-96K19.2_ENST00000440689.1_RNA NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding p.V165I(1) endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 TGGGTATTAACTACAATAAAA 0.418000 10 66 0 0 0.069234 0 0 ADAM29 11086 broad.mit.edu 37 4 175899049 175899049 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:175899049G>A ENST00000359240.3 + 5 3043 c.2373G>A c.(2371-2373)acG>acA p.T791T ADAM29_ENST00000514159.1_Silent_p.T791T|ADAM29_ENST00000445694.1_Silent_p.T791T|ADAM29_ENST00000404450.4_Silent_p.T791T|RP13-577H12.2_ENST00000507525.1_RNA NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 791 9 X 9 AA approximate repeats. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.T791T(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) CTCAGTTGACGCCTTCCCAGA 0.572000 6 186 0 0 0.080935 0 0 LCE2B 26239 broad.mit.edu 37 1 152659331 152659331 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:152659331G>A ENST00000368780.3 + 2 66 c.12G>A c.(10-12)caG>caA p.Q4Q LCE2B_ENST00000417924.2_Silent_p.Q4Q NM_014357.4 NP_055172.1 O14633 LCE2B_HUMAN late cornified envelope 2B 4 Cys-rich. keratinization p.Q4Q(1) endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 11 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCTTGCCAGCAAAACCAGC 0.458000 4 223 0 0 0.009096 0 0 PARP8 79668 broad.mit.edu 37 5 50137809 50137809 + Silent SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr5:50137809C>T ENST00000281631.5 + 26 2630 c.2472C>T c.(2470-2472)gaC>gaT p.D824D PARP8_ENST00000514067.2_Silent_p.D782D|PARP8_ENST00000505697.2_Silent_p.D824D|PARP8_ENST00000505554.1_Silent_p.D803D|PARP8_ENST00000503750.2_Silent_p.D782D|PARP8_ENST00000511363.2_3'UTR NM_001178056.1|NM_024615.3 NP_001171527.1|NP_078891.2 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 824 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity p.D824D(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Lung NSC(810;0.0305)|Breast(144;0.222) GCTATGAAGACGGCCAAGTGG 0.333000 4 28 0 0 0.009096 0 0 SCN2A 6326 broad.mit.edu 37 2 166245543 166245543 + Missense_Mutation SNP A A G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr2:166245543A>G ENST00000375437.2 + 27 5517 c.5227A>G c.(5227-5229)Aaa>Gaa p.K1743E SCN2A_ENST00000283256.6_Missense_Mutation_p.K1743E|SCN2A_ENST00000357398.3_Missense_Mutation_p.K1743E|SCN2A_ENST00000375427.2_Missense_Mutation_p.K1743E NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1743 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.K1743E(2) NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AAGCTCAGTTAAAGGAGACTG 0.458000 70 231 0 0 0.139131 0 0 USP8 9101 broad.mit.edu 37 15 50782647 50782647 + Missense_Mutation SNP C C A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr15:50782647C>A ENST00000433963.1 + 15 2659 c.2159C>A c.(2158-2160)cCa>cAa p.P720Q USP8_ENST00000307179.4_Missense_Mutation_p.P720Q|USP8_ENST00000396444.3_Missense_Mutation_p.P720Q|USP8_ENST00000425032.3_Missense_Mutation_p.P614Q P40818 UBP8_HUMAN ubiquitin specific peptidase 8 720 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.P720Q(2) central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) TACTCCTCCCCAGATATAACC 0.478000 8 170 0.000274275 0.000295928 0.047766 1 0 USP35 57558 broad.mit.edu 37 11 77924751 77924751 + Silent SNP G G T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr11:77924751G>T ENST00000529308.1 + 11 3210 c.2949G>T c.(2947-2949)ccG>ccT p.P983P USP35_ENST00000526425.1_Silent_p.P714P|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000441408.2_Silent_p.P569P|USP35_ENST00000530267.1_Silent_p.P551P NM_020798.2 NP_065849.1 Q9P2H5 UBP35_HUMAN ubiquitin specific peptidase 35 983 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity p.P983P(1)|p.P739P(1) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1) 23 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) CCACATCTCCGCACTGGGGGA 0.577000 25 126 1.10923e-09 1.29939e-09 0.076483 1 0 CSMD1 64478 broad.mit.edu 37 8 3076926 3076926 + Missense_Mutation SNP T T C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr8:3076926T>C ENST00000602557.1 - 30 5081 c.4526A>G c.(4525-4527)tAt>tGt p.Y1509C CSMD1_ENST00000539096.1_Missense_Mutation_p.Y1508C|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000520002.1_Missense_Mutation_p.Y1509C|CSMD1_ENST00000537824.1_Missense_Mutation_p.Y1508C|CSMD1_ENST00000602723.1_Missense_Mutation_p.Y1509C|CSMD1_ENST00000400186.3_Missense_Mutation_p.Y1509C|CSMD1_ENST00000542608.1_Missense_Mutation_p.Y1508C Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1509 CUB 9. integral to membrane p.Y1237C(1)|p.Y1508C(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTCCCCTTCATAGATGTGTAG 0.443000 4 8 0 0 0.009096 0 0 VWA7 80737 broad.mit.edu 37 6 31734406 31734406 + Missense_Mutation SNP T T C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:31734406T>C ENST00000375686.3 - 14 2255 c.2018A>G c.(2017-2019)gAg>gGg p.E673G VWA7_ENST00000447450.1_Silent_p.G666G|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.E673G NM_025258.2 NP_079534.2 Q9Y334 G7C_HUMAN von Willebrand factor A domain containing 7 673 extracellular region p.E673G(1) TCCCACGGGCTCCAAGGGCAC 0.652000 29 56 0 0 0.116897 0 0 KRT73 319101 broad.mit.edu 37 12 53012081 53012081 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr12:53012081G>A ENST00000305748.3 - 1 262 c.228C>T c.(226-228)ggC>ggT p.G76G NM_175068.2 NP_778238.1 Q86Y46 K2C73_HUMAN keratin 73 76 Gly-rich.|Head. keratin filament structural molecule activity p.G76G(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.189) CACTGGCCCGGCCCCGGCCAA 0.637000 73 140 0 0 0.139131 0 0 SDK2 54549 broad.mit.edu 37 17 71433929 71433929 + Missense_Mutation SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr17:71433929G>A ENST00000392650.3 - 8 949 c.949C>T c.(949-951)Cac>Tac p.H317Y SDK2_ENST00000388726.3_Missense_Mutation_p.H317Y NM_001144952.1 NP_001138424.1 Q58EX2 SDK2_HUMAN sidekick cell adhesion molecule 2 317 Ig-like C2-type 4. cell adhesion integral to membrane p.H317Y(1) 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 GCAGTGATGTGTCTTTCTGGC 0.587000 53 92 0 0 0.139131 0 0 MKI67 4288 broad.mit.edu 37 10 129900995 129900995 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr10:129900995C>T ENST00000368654.3 - 13 9484 c.9109G>A c.(9109-9111)Gca>Aca p.A3037T MKI67_ENST00000368653.3_Missense_Mutation_p.A2677T NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 3037 cell proliferation nucleolus ATP binding|protein C-terminus binding p.A3037T(1) 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) TTGCCTCTTGCCCTGGGAGCA 0.537000 5 219 0 0 0.014758 0 0 AKAP6 9472 broad.mit.edu 37 14 32902841 32902841 + Missense_Mutation SNP T T A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr14:32902841T>A ENST00000280979.4 + 2 312 c.142T>A c.(142-144)Tct>Act p.S48T AKAP6_ENST00000557354.1_Missense_Mutation_p.S48T|AKAP6_ENST00000554449.1_3'UTR|AKAP6_ENST00000557272.1_Missense_Mutation_p.S48T NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 48 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding p.S48T(1) 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) GGACATGGACTCTGACCAGCA 0.547000 32 77 0 0 0.144211 0 0 AKT3 10000 broad.mit.edu 37 1 243668581 243668581 + Silent SNP T T C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:243668581T>C ENST00000366539.1 - 14 1610 c.1410A>G c.(1408-1410)caA>caG p.Q470Q AKT3_ENST00000336199.5_Intron|AKT3_ENST00000263826.5_Silent_p.Q470Q|AKT3_ENST00000366540.1_Intron Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 470 AGC-kinase C-terminal. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity p.Q470Q(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) AGTAGGAAAATTGAGGGAAAT 0.398000 23 21 0 0 0.069288 0 0 VCAN 1462 broad.mit.edu 37 5 82849280 82849280 + Silent SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr5:82849280C>T ENST00000265077.3 + 11 10156 c.9591C>T c.(9589-9591)tgC>tgT p.C3197C VCAN_ENST00000512590.2_Silent_p.C1395C|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Silent_p.C1443C|VCAN-AS1_ENST00000513899.1_RNA|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Silent_p.C2210C|VCAN_ENST00000502527.2_Silent_p.C456C NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 3197 C-type lectin. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding p.C3197C(2) 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) AACGGGAATGCCGTCTGCAGG 0.478000 5 197 0 0 0.021553 0 0 NRXN1 9378 broad.mit.edu 37 2 50850546 50850546 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr2:50850546C>T ENST00000404971.1 - 7 2478 c.1139G>A c.(1138-1140)gGa>gAa p.G380E NRXN1_ENST00000405472.3_Missense_Mutation_p.G347E|NRXN1_ENST00000406316.2_Missense_Mutation_p.G347E|NRXN1_ENST00000406859.3_Missense_Mutation_p.G347E|NRXN1_ENST00000402717.3_Missense_Mutation_p.G347E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G347E NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 347 Laminin G-like 2. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity p.G381E(1)|p.G380E(1)|p.G347E(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGCCCCTGATCCCAAATTAAT 0.458000 43 94 0 0 0.117977 0 0 INPP4B 8821 broad.mit.edu 37 4 143159109 143159109 + Nonsense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:143159109C>T ENST00000513000.1 - 13 1177 c.744G>A c.(742-744)tgG>tgA p.W248* INPP4B_ENST00000509777.1_Nonsense_Mutation_p.W248*|INPP4B_ENST00000508116.1_Nonsense_Mutation_p.W248*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.W248*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.W248* NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 248 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity p.W248*(1)|p.W248S(1) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) GAATTCGCATCCACTTATTGT 0.328000 18 32 0 0 0.038395 0 0 C19orf44 84167 broad.mit.edu 37 19 16612266 16612266 + Missense_Mutation SNP G G T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr19:16612266G>T ENST00000221671.3 + 2 819 c.663G>T c.(661-663)ttG>ttT p.L221F CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.L221F NM_032207.2 NP_115583.1 Q9H6X5 CS044_HUMAN chromosome 19 open reading frame 44 221 p.L221F(1) endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 16 TGAAAGTATTGCTAGGAAGCT 0.433000 21 83 8.10497e-08 9.23066e-08 0.055883 1 0 CWH43 80157 broad.mit.edu 37 4 49040081 49040081 + Missense_Mutation SNP A A T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:49040081A>T ENST00000226432.4 + 13 1870 c.1687A>T c.(1687-1689)Att>Ttt p.I563F CWH43_ENST00000513409.1_Missense_Mutation_p.I536F NM_025087.2 NP_079363.2 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) 563 GPI anchor biosynthetic process integral to membrane p.I563F(1) cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 ACTGCAGGCTATTGCTGTTTC 0.358000 58 226 0 0 0.139131 0 0 MRPS36 92259 broad.mit.edu 37 5 68524147 68524147 + Missense_Mutation SNP T T C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr5:68524147T>C ENST00000256441.4 + 3 297 c.227T>C c.(226-228)aTa>aCa p.I76T MRPS36_ENST00000512880.1_Missense_Mutation_p.I11T|MRPS36_ENST00000602380.1_Missense_Mutation_p.I11T|MRPS36_ENST00000507022.1_3'UTR NM_033281.5 NP_150597.1 P82909 RT36_HUMAN mitochondrial ribosomal protein S36 76 translation mitochondrial small ribosomal subunit structural constituent of ribosome p.I76T(1) NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1) 7 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176) ACTGCAGAAATAATAAAAACA 0.388000 78 81 0 0 0.139131 0 0 POTEC 388468 broad.mit.edu 37 18 14513675 14513675 + Missense_Mutation SNP T T C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr18:14513675T>C ENST00000358970.5 - 10 1518 c.1519A>G c.(1519-1521)Aaa>Gaa p.K507E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 507 p.K507E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 GAATTCATTTTCTTTTCAGCC 0.284000 3 95 0 0 0.009096 0 0 THSD4 79875 broad.mit.edu 37 15 72030241 72030241 + Nonsense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr15:72030241C>T ENST00000355327.3 + 11 1935 c.1801C>T c.(1801-1803)Cga>Tga p.R601* THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Nonsense_Mutation_p.R601*|THSD4_ENST00000357769.4_Nonsense_Mutation_p.R241* Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 601 proteinaceous extracellular matrix metalloendopeptidase activity p.R601*(1) breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TTCTCCCCATCGACCGGACAA 0.597000 50 52 0 0 0.139131 0 0 INPP4B 8821 broad.mit.edu 37 4 143159110 143159110 + Missense_Mutation SNP C C G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:143159110C>G ENST00000513000.1 - 13 1176 c.743G>C c.(742-744)tGg>tCg p.W248S INPP4B_ENST00000509777.1_Missense_Mutation_p.W248S|INPP4B_ENST00000508116.1_Missense_Mutation_p.W248S|INPP4B_ENST00000308502.4_Missense_Mutation_p.W248S|INPP4B_ENST00000262992.4_Missense_Mutation_p.W248S NM_003866.2 NP_003857.2 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 105kDa 248 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity p.W248S(2) breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 all_hematologic(180;0.158) AATTCGCATCCACTTATTGTC 0.328000 19 32 0 0 0.043863 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35919962 35919962 + Splice_Site SNP C C G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:35919962C>G ENST00000325722.3 - 11 2015 c.e11+1 KIAA0319L_ENST00000373266.4_Splice_Site|KIAA0319L_ENST00000485551.1_Splice_Site NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like cytoplasmic vesicle part|integral to membrane protein binding p.?(2) breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CTGGAGCTTACCAGGTTGCAC 0.498000 16 96 0 0 0.043863 0 0 GBP7 388646 broad.mit.edu 37 1 89637586 89637586 + Silent SNP C C A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:89637586C>A ENST00000294671.2 - 2 171 c.33G>T c.(31-33)gtG>gtT p.V11V NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 11 integral to membrane GTP binding|GTPase activity p.V11V(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) CAGTGAGGCACACTGGGCCTG 0.483000 8 191 0.000274275 0.000295928 0.047766 1 0 TTN 7273 broad.mit.edu 37 2 179475790 179475790 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr2:179475790G>A ENST00000589042.1 - 270 51290 c.51066C>T c.(51064-51066)gcC>gcT p.A17022A TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.A14454A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.A8149A|TTN_ENST00000591111.1_Silent_p.A15381A|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Silent_p.A8082A|TTN_ENST00000460472.2_Silent_p.A7957A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 15381 Fibronectin type-III 23. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A14454A(2)|p.A7957A(1)|p.A8082A(1)|p.A8149A(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TATAAATTCCGGCATCTGCAC 0.393000 6 185 0 0 0.021553 0 0 DNAH9 1770 broad.mit.edu 37 17 11592918 11592918 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr17:11592918C>T ENST00000262442.4 + 20 3847 c.3779C>T c.(3778-3780)gCc>gTc p.A1260V DNAH9_ENST00000454412.2_Missense_Mutation_p.A1260V NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.A1260V(1) NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ATGCTGGATGCCAGGCACATC 0.483000 4 138 0 0 0.009096 0 0 CSMD3 114788 broad.mit.edu 37 8 113678640 113678640 + Silent SNP T T A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr8:113678640T>A ENST00000297405.5 - 17 2926 c.2682A>T c.(2680-2682)ccA>ccT p.P894P CSMD3_ENST00000455883.2_Silent_p.P790P|CSMD3_ENST00000343508.3_Silent_p.P854P|CSMD3_ENST00000352409.3_Silent_p.P894P NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 894 integral to membrane|plasma membrane p.P894P(1)|p.P854P(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGCCACCACATGGGGCTGAAA 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 20 0 0 0.080935 0 0 FGG 2266 broad.mit.edu 37 4 155530879 155530879 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:155530879C>T ENST00000404648.3 - 6 808 c.569G>A c.(568-570)aGc>aAc p.S190N FGG_ENST00000336098.3_Missense_Mutation_p.S190N|FGG_ENST00000407946.1_Missense_Mutation_p.S198N|FGG_ENST00000405164.1_Missense_Mutation_p.S198N NM_000509.4 NP_000500.2 P02679 FIBG_HUMAN fibrinogen gamma chain 190 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.S190N(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GTAAAGCCCGCTCTGTTTAGC 0.418000 26 98 0 0 0.099896 0 0 FGFR3 2261 broad.mit.edu 37 4 1803564 1803564 + Missense_Mutation SNP C C T rs121913482 TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr4:1803564C>T ENST00000340107.4 + 7 998 c.742C>T c.(742-744)Cgc>Tgc p.R248C FGFR3_ENST00000440486.2_Missense_Mutation_p.R248C|FGFR3_ENST00000412135.2_Missense_Mutation_p.R248C|FGFR3_ENST00000260795.2_Missense_Mutation_p.R248C|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.R248C|FGFR3_ENST00000352904.1_Missense_Mutation_p.R248C NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 248 R -> C (in KERSEB, bladder cancer, keratinocytic non-epidermolytic nevus and TD1; severe and lethal; also found as somatic mutation in one patient with multiple myeloma). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.R248C(241)|p.R248_S249del(1)|p.R248_S249insC(1) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CCCCACAGAGCGCTCCCCGCA 0.741000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 7 14 0 0 0.080935 0 0 GABRB2 2561 broad.mit.edu 37 5 160721255 160721255 + Nonsense_Mutation SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr5:160721255G>A ENST00000274547.2 - 11 1589 c.1372C>T c.(1372-1374)Cga>Tga p.R458* GABRB2_ENST00000517547.1_Nonsense_Mutation_p.R260*|GABRB2_ENST00000517901.1_Nonsense_Mutation_p.R357*|GABRB2_ENST00000520240.1_Nonsense_Mutation_p.R420*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.R420*|GABRB2_ENST00000393959.1_Nonsense_Mutation_p.R458* NM_000813.2|NM_021911.2 NP_000804.1|NP_068711.1 P47870 GBRB2_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 2 458 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|GABA-A receptor activity p.R420*(1)|p.R458*(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCCACATGTCGTTCCAGAGCA 0.527000 41 61 0 0 0.104719 0 0 OR3A4P 390756 broad.mit.edu 37 17 3214416 3214416 + RNA SNP C C A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr17:3214416C>A ENST00000573491.1 - 0 359 p.S271*(1) GTGGAGTCTTCGGACAAGGAC 0.547000 4 187 0.00909568 0.00956213 0.009096 1 0 TPTEP1 387590 broad.mit.edu 37 22 17119559 17119559 + RNA SNP G G C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr22:17119559G>C ENST00000426585.1 + 0 371 TTCCTTCGGAGTATCGTTCTA 0.348000 19 33 0 0 0.049695 0 0 CUL1 8454 broad.mit.edu 37 7 148496370 148496370 + Missense_Mutation SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr7:148496370G>A ENST00000325222.4 + 21 2419 c.2140G>A c.(2140-2142)Gcc>Acc p.A714T CUL1_ENST00000409469.1_Missense_Mutation_p.A714T|CUL1_ENST00000602748.1_Missense_Mutation_p.A714T NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 714 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding p.A714T(1) breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TGCATAGGCGGCCATCGTGAG 0.483000 4 115 0 0 0.009096 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140346900 140346900 + Missense_Mutation SNP G G T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr5:140346900G>T ENST00000289269.5 + 1 1081 c.549G>T c.(547-549)caG>caT p.Q183H PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 183 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.Q183H(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCAGTACAGACCTACGAGC 0.607000 15 14 3.27435e-08 3.78165e-08 0.119110 1 0 RSBN1 54665 broad.mit.edu 37 1 114308928 114308928 + Silent SNP A A G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:114308928A>G ENST00000261441.5 - 7 2146 c.2083T>C c.(2083-2085)Tta>Cta p.L695L RSBN1_ENST00000369581.2_5'UTR NM_018364.3 NP_060834.2 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 695 nucleus p.L695L(1) breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2) 29 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-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) TGCCAGGCTAAGCTGCACACC 0.428000 15 131 0 0 0.119110 0 0 NLRP12 91662 broad.mit.edu 37 19 54327327 54327327 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr19:54327327G>A ENST00000324134.6 - 1 270 c.102C>T c.(100-102)acC>acT p.T34T NLRP12_ENST00000345770.5_Silent_p.T34T|NLRP12_ENST00000351894.4_Silent_p.T34T|NLRP12_ENST00000391773.1_Silent_p.T34T|NLRP12_ENST00000391775.3_Silent_p.T34T|NLRP12_ENST00000354278.3_Silent_p.T34T|NLRP12_ENST00000391772.1_Silent_p.T34T|NLRP12_ENST00000535162.1_Silent_p.T34T NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 34 DAPIN. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.T34T(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCTCTGTCGCGGTCCCCAGGT 0.602000 51 98 0 0 0.139131 0 0 NEK11 79858 broad.mit.edu 37 3 130881325 130881325 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr3:130881325C>T ENST00000383366.4 + 11 1329 c.1036C>T c.(1036-1038)Cgg>Tgg p.R346W NEK11_ENST00000507910.1_Missense_Mutation_p.R346W|NEK11_ENST00000510688.1_Missense_Mutation_p.R346W|NEK11_ENST00000511262.1_Missense_Mutation_p.R346W|NEK11_ENST00000412440.2_Missense_Mutation_p.R198W|NEK11_ENST00000356918.4_Missense_Mutation_p.R346W|NEK11_ENST00000510769.1_Missense_Mutation_p.R241W|NEK11_ENST00000429253.2_Missense_Mutation_p.R346W|NEK11_ENST00000508196.1_Missense_Mutation_p.R346W NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 346 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity p.R346W(1) breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 AGAAAGGATGCGGCTGAGGAA 0.493000 5 208 0 0 0.029380 0 0 CCDC144A 9720 broad.mit.edu 37 17 16593762 16593762 + Silent SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr17:16593762G>A ENST00000443444.2 + 1 188 c.48G>A c.(46-48)ccG>ccA p.P16P CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Silent_p.P16P|CCDC144A_ENST00000399273.1_Silent_p.P16P|RP11-219A15.1_ENST00000448331.3_Silent_p.P16P|CCDC144A_ENST00000360524.8_Silent_p.P16P|CCDC144A_ENST00000340621.5_Silent_p.P16P A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 16 p.P16P(1) AGGGGTCTCCGAAGCCGGCAG 0.672000 7 42 0 0 0.029380 0 0 SUPT3H 8464 broad.mit.edu 37 6 45332969 45332969 + Missense_Mutation SNP T T C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:45332969T>C ENST00000371459.1 - 2 235 c.70A>G c.(70-72)Ata>Gta p.I24V RUNX2_ENST00000483243.1_Intron|RUNX2_ENST00000352853.5_Intron|RUNX2_ENST00000371438.1_Intron|RUNX2_ENST00000371436.6_Intron|SUPT3H_ENST00000459689.1_5'UTR|RUNX2_ENST00000465038.2_Intron|RUNX2_ENST00000541979.1_Intron|RUNX2_ENST00000576263.1_Intron|SUPT3H_ENST00000306867.5_Missense_Mutation_p.I24V|SUPT3H_ENST00000371460.1_5'UTR NM_001261823.1|NM_003599.3 NP_001248752.1|NP_003590.1 O75486 SUPT3_HUMAN suppressor of Ty 3 homolog (S. cerevisiae) 106 histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent STAGA complex|transcription factor TFTC complex DNA binding|transcription coactivator activity p.I24V(1) breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 12 GCAAAGCTTATAGACTTCCCT 0.333000 43 84 0 0 0.139131 0 0 HSF1 3297 broad.mit.edu 37 8 145533230 145533230 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr8:145533230C>T ENST00000528838.1 + 3 476 c.316C>T c.(316-318)Cgt>Tgt p.R106C HSF1_ENST00000400780.4_Missense_Mutation_p.R41C NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 106 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity p.R106C(1) endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) ATGCTTCCTGCGTGGCCAGGA 0.612000 62 109 0 0 0.139131 0 0 OBSCN 84033 broad.mit.edu 37 1 228444535 228444535 + Missense_Mutation SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:228444535G>A ENST00000570156.2 + 16 4843 c.4769G>A c.(4768-4770)aGg>aAg p.R1590K OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.R1498K|OBSCN_ENST00000359599.6_Missense_Mutation_p.R62K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.R1498K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 571 Ig-like 16. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.R1498K(4) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) TGCACACGGAGGCTGGTGGTG 0.672000 4 45 0 0 0.009096 0 0 AMY2B 280 broad.mit.edu 37 1 104117881 104117881 + Missense_Mutation SNP C C A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:104117881C>A ENST00000361355.4 + 8 1531 c.915C>A c.(913-915)gaC>gaA p.D305E AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 305 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding p.D305E(1) breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) TGCCTTCTGACAGAGCACTTG 0.413000 116 233 3.79751e-50 4.57935e-50 0.139131 1 0 ABCC6 368 broad.mit.edu 37 16 16297362 16297362 + Silent SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr16:16297362C>T ENST00000205557.7 - 8 932 c.903G>A c.(901-903)aaG>aaA p.K301K ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 301 response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.K301K(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) GCCAGATGGCCTTCAGCAGTG 0.567000 23 53 0 0 0.134883 0 0 OR5M3 219482 broad.mit.edu 37 11 56237250 56237250 + Missense_Mutation SNP G G T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr11:56237250G>T ENST00000312240.2 - 1 764 c.724C>A c.(724-726)Cat>Aat p.H242N NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 242 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.H242N(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) GCTGTCAGATGGGACCCACAT 0.473000 3 52 0.115264 0.119641 0.115264 1 0 FAM65C 140876 broad.mit.edu 37 20 49211102 49211102 + Nonsense_Mutation SNP G G A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr20:49211102G>A ENST00000327979.2 - 17 2599 c.2188C>T c.(2188-2190)Cag>Tag p.Q730* FAM65C_ENST00000045083.2_Nonsense_Mutation_p.Q730*|FAM65C_ENST00000535356.1_Nonsense_Mutation_p.Q734* Q96MK2 FA65C_HUMAN family with sequence similarity 65, member C 730 p.Q730*(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATTTCCAGCTGTCCTGGGTAC 0.597000 8 226 0 0 0.080935 0 0 HMCN1 83872 broad.mit.edu 37 1 186143685 186143685 + Missense_Mutation SNP A A G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:186143685A>G ENST00000271588.4 + 103 16083 c.15854A>G c.(15853-15855)tAt>tGt p.Y5285C HMCN1_ENST00000367492.2_Missense_Mutation_p.Y5285C NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 5285 EGF-like 5; calcium-binding (Potential). response to stimulus|visual perception basement membrane calcium ion binding p.Y5285C(1) NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 CAGTGCAGATATAACCAGATA 0.408000 11 66 0 0 0.093190 0 0 FRS2 10818 broad.mit.edu 37 12 69968295 69968295 + Missense_Mutation SNP A A C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr12:69968295A>C ENST00000299293.2 + 10 1597 c.1087A>C c.(1087-1089)Aag>Cag p.K363Q FRS2_ENST00000397997.2_Missense_Mutation_p.K363Q|FRS2_ENST00000549921.1_Missense_Mutation_p.K363Q|FRS2_ENST00000550389.1_Missense_Mutation_p.K363Q NM_001278351.1|NM_006654.3 NP_001265280.1|NP_006645.3 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 363 activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity p.K363Q(2) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GGAAGCCCGCAAGCTAAGTAG 0.388000 28 1357 0 0 0.076483 0 0 IZUMO4 113177 broad.mit.edu 37 19 2098100 2098100 + Silent SNP C C T rs146461646 byFrequency TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr19:2098100C>T ENST00000395307.2 + 5 1012 c.447C>T c.(445-447)caC>caT p.H149H IZUMO4_ENST00000395301.3_Silent_p.H149H|IZUMO4_ENST00000588003.1_Intron NM_001031735.2 NP_001026905.2 Q1ZYL8 IZUM4_HUMAN IZUMO family member 4 149 extracellular region p.H149H(2) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 6 CAGACTCGCACGTCGCCTGCT 0.632000 7 349 0 0 0.029380 0 0 KNTC1 9735 broad.mit.edu 37 12 123041992 123041992 + Missense_Mutation SNP C C T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr12:123041992C>T ENST00000333479.7 + 17 1511 c.1334C>T c.(1333-1335)gCc>gTc p.A445V KNTC1_ENST00000450485.2_Missense_Mutation_p.A408V NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 445 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding p.A445V(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TCTGTGGATGCCAGTGAACAG 0.378000 3 56 0 0 0.115264 0 0 CSMD3 114788 broad.mit.edu 37 8 113668395 113668395 + Missense_Mutation SNP T T A TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr8:113668395T>A ENST00000297405.5 - 18 3236 c.2992A>T c.(2992-2994)Att>Ttt p.I998F CSMD3_ENST00000455883.2_Missense_Mutation_p.I894F|CSMD3_ENST00000343508.3_Missense_Mutation_p.I958F|CSMD3_ENST00000352409.3_Missense_Mutation_p.I998F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 998 CUB 5. integral to membrane|plasma membrane p.I998F(1)|p.I958F(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TCATAATGAATCTTGAAACCA 0.308000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 68 0 0 0.119110 0 0 OR2T35 403244 broad.mit.edu 37 1 248801602 248801603 + Frame_Shift_Ins INS - - CA TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr1:248801602_248801603insCA ENST00000317450.3 - 1 956_957 c.957_958insTG c.(955-960)gtgatcfs p.I320fs NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor, family 2, subfamily T, member 35 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I320fs*1(1) endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1) 6 all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.237) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCTTCCTGATCACAGTCGCCA 0.545 2 4 --- --- --- --- SCN2A 6326 broad.mit.edu 37 2 166237618 166237619 + Frame_Shift_Ins INS - - T TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr2:166237618_166237619insT ENST00000375437.2 + 25 4752_4753 c.4462_4463insT c.(4462-4464)attfs p.I1488fs SCN2A_ENST00000375427.2_Frame_Shift_Ins_p.I1488fs|SCN2A_ENST00000283256.6_Frame_Shift_Ins_p.I1488fs|SCN2A_ENST00000357398.3_Frame_Shift_Ins_p.I1488fs NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1488 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) AGGTCAAGACATTTTTATGACA 0.347 2 4 --- --- --- --- AC114765.1 0 broad.mit.edu 37 2 221290621 221290622 + RNA INS - - CCTTCCTT rs148674567 by1000genomes TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr2:221290621_221290622insCCTTCCTT ENST00000432993.1 + 0 427 ctttctttctcccttccttcct 0.361 3 4 --- --- --- --- DOPEY1 23033 broad.mit.edu 37 6 83818634 83818650 + Frame_Shift_Del DEL GATTATTTCCTCTTCTT GATTATTTCCTCTTCTT - TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:83818634_83818650delGATTATTTCCTCTTCTT ENST00000349129.2 + 5 586_602 c.326_342delGATTATTTCCTCTTCTT c.(325-342)ggattatttcctcttcttfs p.GLFPLL109fs DOPEY1_ENST00000536812.1_Frame_Shift_Del_p.GLFPLL109fs|DOPEY1_ENST00000369739.3_Frame_Shift_Del_p.GLFPLL109fs|DOPEY1_ENST00000237163.5_Frame_Shift_Del_p.GLFPLL109fs NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 109 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AATAGTTCTGGATTATTTCCTCTTCTTGCAAATGCTG 0.318 14 110 --- --- --- --- TCP10L2 401285 broad.mit.edu 37 6 167590551 167590552 + Frame_Shift_Ins INS - - C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:167590551_167590552insC ENST00000366832.2 + 4 558_559 c.427_428insC c.(427-429)gctfs p.A143fs NM_001145121.1 NP_001138593.1 B9ZVM9 B9ZVM9_HUMAN t-complex 10-like 2 143 endometrium(1)|kidney(2)|lung(3) 6 GCCCAAATACGCTGGCCGCAAG 0.465 21 197 --- --- --- --- TCP10 6953 broad.mit.edu 37 6 167791512 167791513 + Frame_Shift_Ins INS - - G TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr6:167791512_167791513insG ENST00000366827.2 - 4 558_559 c.347_348insC c.(346-348)gctfs p.A116fs TCP10_ENST00000397829.4_Frame_Shift_Ins_p.A116fs Q12799 TCP10_HUMAN t-complex 10 143 cytosol NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6) 18 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) TCTTGCGGCCAGCGTATTTGGG 0.460 7 122 --- --- --- --- CCDC136 64753 broad.mit.edu 37 7 128434455 128434457 + In_Frame_Del DEL GAA GAA - TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr7:128434455_128434457delGAA ENST00000297788.4 + 2 437_439 c.70_72delGAA c.(70-72)gaadel p.E26del CCDC136_ENST00000464832.1_In_Frame_Del_p.E76del|CCDC136_ENST00000487361.1_In_Frame_Del_p.E26del|CCDC136_ENST00000378685.4_In_Frame_Del_p.E76del NM_022742.4 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 26 Glu-rich. integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 ggaagaggaggaagaagaggtgg 0.532 2 4 --- --- --- --- MRM1 79922 broad.mit.edu 37 17 34958251 34958281 + Frame_Shift_Del DEL CTCGACCGTCCGGGGCGCGACCTGGGGTCGC CTCGACCGTCCGGGGCGCGACCTGGGGTCGC - rs141604685 TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr17:34958251_34958281delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC ENST00000250156.7 + 1 251_281 c.12_42delCTCGACCGTCCGGGGCGCGACCTGGGGTCGC c.(10-42)ctctcgaccgtccggggcgcgacctggggtcgcfs p.LSTVRGATWGR4fs NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 4 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TGGCATTGCTCTCGACCGTCCGGGGCGCGACCTGGGGTCGCCTCGTCACCC 0.697 14 97 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) catcaccaccaccaccatcacc 0.579 4 5 --- --- --- --- KDM6A 7403 broad.mit.edu 37 X 44896934 44896934 + Splice_Site DEL G G - TCGA-BT-A0S7-01A-11D-A10S-08 TCGA-BT-A0S7-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2e5d244-94c1-4dbf-8d33-34b595903310 5f37608e-793b-4409-ba17-aaebe59f214d g.chrX:44896934delG ENST00000377967.4 + 8 695 c.654delG c.(652-654)cag>ca p.Q218fs KDM6A_ENST00000543216.1_Splice_Site_p.Q218fs|KDM6A_ENST00000382899.4_Splice_Site_p.Q218fs|KDM6A_ENST00000536777.1_Splice_Site_p.Q218fs NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 218 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0(12)|p.0?(6)|p.?(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ATGAAACCCAGGTAAGTATTT 0.303 """D, N, F, S""" """renal, oesophageal SCC, MM""" 23 24 --- --- --- ---