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 MT-CYB 4519 broad.mit.edu 37 MT 15633 15633 + Missense_Mutation SNP T T C TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chrM:15633T>C ENST00000361789.2 + 1 887 c.887T>C c.(886-888)cTa>cCa p.296_296insP mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 TGCCCTATTACTATCCATCCT 0.448000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 33 42 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3002560 3002560 + Missense_Mutation SNP T T A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chrX:3002560T>A ENST00000381127.1 + 6 904 c.683T>A c.(682-684)cTc>cAc p.L228H ARSF_ENST00000359361.2_Missense_Mutation_p.L228H|ARSF_ENST00000537104.1_Missense_Mutation_p.L228H NM_001201538.1|NM_001201539.1 NP_001188467.1|NP_001188468.1 P54793 ARSF_HUMAN arylsulfatase F 228 extracellular region arylsulfatase activity|metal ion binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TTTATTTTCCTCTTGGGCTAT 0.547000 9 90 0 0 1 0 0 GMDS 2762 broad.mit.edu 37 6 2117711 2117711 + Missense_Mutation SNP A A G TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr6:2117711A>G ENST00000380815.4 - 3 496 c.227T>C c.(226-228)aTt>aCt p.I76T GMDS_ENST00000530927.1_Missense_Mutation_p.I46T NM_001500.3 NP_001491.1 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 76 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity GMDS/PDE8B(2) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1) 21 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) ACTTCCTTCAATGTGAGCCTG 0.373000 6 68 0 0 1 0 0 HIST2H2AC 8338 broad.mit.edu 37 1 149858724 149858724 + Missense_Mutation SNP C C T rs142055068 TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr1:149858724C>T ENST00000331380.2 + 1 200 c.200C>T c.(199-201)gCg>gTg p.A67V NM_003517.2 NP_003508.1 Q16777 H2A2C_HUMAN histone cluster 2, H2ac 67 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1) 20 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) CTGGAGCTGGCGGGCAACGCG 0.657000 4 61 0 0 1 0 0 ZNF83 55769 broad.mit.edu 37 19 53116885 53116885 + Silent SNP A A G rs7247257 TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr19:53116885A>G ENST00000597597.1 - 2 3186 c.933T>C c.(931-933)caT>caC p.H311H ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.H311H P51522 ZNF83_HUMAN zinc finger protein 83 311 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244) TCTCTCCAGTATGAATTCTCC 0.418000 4 164 0 0 1 0 0 RP11-1166P10.6 0 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 88 0 0 1 0 0 OR1N2 138882 broad.mit.edu 37 9 125316381 125316381 + Missense_Mutation SNP C C A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr9:125316381C>A ENST00000373688.2 + 1 991 c.933C>A c.(931-933)aaC>aaA p.N311K NM_001004457.1 NP_001004457.1 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, member 2 311 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3) 26 GCTTGAGGAACAGAGACATGA 0.403000 4 54 0.00909568 0.00931224 1 1 0 IGHV3OR15-7 0 broad.mit.edu 37 15 20193165 20193165 + RNA SNP C C A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr15:20193165C>A ENST00000558565.2 - 0 102 CTCAGAGAACCCCCAGGCTGG 0.572000 8 72 7.48243e-07 8.6958e-07 1 1 0 TRIML1 339976 broad.mit.edu 37 4 189068456 189068456 + Missense_Mutation SNP C C A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr4:189068456C>A ENST00000332517.3 + 6 1477 c.1337C>A c.(1336-1338)tCc>tAc p.S446Y TRIML1_ENST00000507581.1_3'UTR NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 446 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CCTATCTTTTCCCCCTGCCTC 0.562000 9 94 0.000978159 0.00102587 1 1 0 MYO15A 51168 broad.mit.edu 37 17 18022790 18022790 + Missense_Mutation SNP C C T TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr17:18022790C>T ENST00000205890.5 + 2 1014 c.676C>T c.(676-678)Ctt>Ttt p.L226F NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 226 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCTGTACGGGCTTGAGGGCTT 0.642000 5 65 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 3 46 0 0 1 0 0 ZNF543 125919 broad.mit.edu 37 19 57835056 57835056 + Missense_Mutation SNP G G T TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr19:57835056G>T ENST00000321545.4 + 2 370 c.25G>T c.(25-27)Gtg>Ttg p.V9L NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 9 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CCAGGTGTCTGTGACCTTTGA 0.488000 4 154 1.23904e-05 1.36612e-05 1 1 0 ATRX 546 broad.mit.edu 37 X 76939853 76939853 + Missense_Mutation SNP T T C TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chrX:76939853T>C ENST00000373344.5 - 9 1109 c.895A>G c.(895-897)Aaa>Gaa p.K299E ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K261E NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 299 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CTGTCAACTTTTATCTTCTTC 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 6 59 0 0 1 0 0 SLC28A2 9153 broad.mit.edu 37 15 45545719 45545719 + Splice_Site SNP G G C TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr15:45545719G>C ENST00000347644.3 + 3 235 c.e3+1 CTD-2651B20.3_ENST00000559003.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA NM_004212.3 NP_004203.2 O43868 S28A2_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 2 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1) 26 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) CTTACCAGAGGTACTGGTGTT 0.522000 3 17 0 0 1 0 0 SAMD1 90378 broad.mit.edu 37 19 14199324 14199324 + Missense_Mutation SNP G G A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr19:14199324G>A ENST00000533683.2 - 5 1491 c.1204C>T c.(1204-1206)Cgc>Tgc p.R402C NM_138352.1 NP_612361.1 Q6SPF0 SAMD1_HUMAN sterile alpha motif domain containing 1 508 cytoplasm|extracellular region endometrium(3) 3 Renal(1328;0.00183)|Hepatocellular(1079;0.00826) GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199) GGCCCGAGGCGGATGGACAGG 0.577000 3 35 0 0 1 0 0 ZNF91 7644 broad.mit.edu 37 19 23544783 23544783 + Missense_Mutation SNP C C T rs410211 TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr19:23544783C>T ENST00000300619.7 - 4 1203 c.998G>A c.(997-999)cGt>cAt p.R333H ZNF91_ENST00000397082.2_Missense_Mutation_p.R301H|ZNF91_ENST00000599743.1_Intron NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 333 R -> H (in Ref. 1; AAA59469). nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R333H(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) GGTTGAAGAACGGCTAAAAGC 0.393000 6 95 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028425 37028425 + Missense_Mutation SNP A A G rs145580328 byFrequency TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chrX:37028425A>G ENST00000358047.3 + 1 1994 c.1942A>G c.(1942-1944)Aat>Gat p.N648D NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 648 p.N648D(7) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 GGAGCCTCCCAATACTGGAGT 0.642000 5 125 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45812903 45812903 + Missense_Mutation SNP C C A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr3:45812903C>A ENST00000358525.4 - 6 856 c.741G>T c.(739-741)caG>caT p.Q247H SLC6A20_ENST00000353278.4_Missense_Mutation_p.Q210H|SLC6A20_ENST00000456124.2_Missense_Mutation_p.Q247H NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 247 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) AGAAGAAGATCTGGGTGGCTG 0.587000 4 62 0.00024832 0.000266944 1 1 0 FAM83H 286077 broad.mit.edu 37 8 144811136 144811136 + Splice_Site SNP C C T TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr8:144811136C>T ENST00000388913.3 - 4 863 c.e4+1 NM_198488.3 NP_940890.3 Q6ZRV2 FA83H_HUMAN family with sequence similarity 83, member H biomineral tissue development central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1) 21 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CGCGGGCGCACCTGTAGCTCC 0.657000 4 147 0 0 1 0 0 DMTN 2039 broad.mit.edu 37 8 21924655 21924655 + Silent SNP T T G TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr8:21924655T>G ENST00000358242.3 + 3 571 c.78T>G c.(76-78)tcT>tcG p.S26S DMTN_ENST00000517600.1_Intron|DMTN_ENST00000523782.2_Intron|DMTN_ENST00000415253.1_Silent_p.S26S|DMTN_ENST00000523266.1_Silent_p.S26S|DMTN_ENST00000519907.1_Silent_p.S26S|DMTN_ENST00000432128.1_Silent_p.S26S|DMTN_ENST00000381470.3_Silent_p.S26S|DMTN_ENST00000265800.5_Silent_p.S26S|DMTN_ENST00000443491.2_Intron dematin actin binding protein TGCCTGGCTCTCCCTCCAGCA 0.697000 3 89 0 0 1 0 0 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr19:40580552T>G ENST00000450241.2 - 6 2006 c.1695A>C c.(1693-1695)caA>caC p.Q565H ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H O75290 Z780A_HUMAN zinc finger protein 780A 599 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1) 31 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403000 5 117 0 0 1 0 0 RP11-114H24.7 0 broad.mit.edu 37 15 78208916 78208916 + RNA SNP C C G rs56290535 by1000genomes TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr15:78208916C>G ENST00000565869.1 + 0 53 TCCAGATGTTCTCCTCCATCT 0.627000 3 87 0 0 1 0 0 GOLGA5 9950 broad.mit.edu 37 14 93303788 93303788 + Missense_Mutation SNP A A G TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr14:93303788A>G ENST00000163416.2 + 12 2365 c.2109A>G c.(2107-2109)atA>atG p.I703M GOLGA5_ENST00000355976.2_Intron NM_005113.2 NP_005104.2 Q8TBA6 GOGA5_HUMAN golgin A5 703 Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) TTGTAATTATATATATGGTAA 0.353000 T RET papillary thyroid 11 155 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13042296 13042296 + Missense_Mutation SNP A A G TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr18:13042296A>G ENST00000506447.1 + 15 2110 c.2030A>G c.(2029-2031)aAt>aGt p.N677S CEP192_ENST00000430049.2_Missense_Mutation_p.N202S|CEP192_ENST00000325971.8_Missense_Mutation_p.N81S NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 272 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GTGGATGAAAATGATGTGACG 0.403000 5 67 0 0 1 0 0 TDO2 6999 broad.mit.edu 37 4 156828925 156828925 + Missense_Mutation SNP A A C TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr4:156828925A>C ENST00000536354.2 + 4 348 c.284A>C c.(283-285)gAg>gCg p.E95A NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 95 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) TCTGTTCGAGAGATCTTTCAG 0.338000 3 73 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976750 38976750 + Missense_Mutation SNP G G A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr19:38976750G>A ENST00000355481.4 + 34 5586 c.5455G>A c.(5455-5457)Gtg>Atg p.V1819M RYR1_ENST00000359596.3_Missense_Mutation_p.V1819M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1819M NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1819 6 X approximate repeats. 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) GGGGGAGGCGGTGCGCGACGG 0.706000 4 123 0 0 1 0 0 MT-CO2 4513 broad.mit.edu 37 MT 7847 7847 + Missense_Mutation SNP G G A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chrM:7847G>A ENST00000361739.1 + 1 262 c.262G>A c.(262-264)Gac>Aac p.D88N mitochondrially encoded cytochrome c oxidase II endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1) 19 TTTACATAACAGACGAGGTCA 0.502000 6 109 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55798597 55798597 + Missense_Mutation SNP G G A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr19:55798597G>A ENST00000309383.1 + 3 524 c.247G>A c.(247-249)Gcc>Acc p.A83T BRSK1_ENST00000590333.1_Missense_Mutation_p.A99T|BRSK1_ENST00000585418.1_Missense_Mutation_p.A83T NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 83 Protein kinase. establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GCGGGAGATCGCCATCCTGAA 0.607000 4 168 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57938657 57938657 + Missense_Mutation SNP A A G TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr16:57938657A>G ENST00000564448.1 - 26 2657 c.2597T>C c.(2596-2598)tTc>tCc p.F866S CNGB1_ENST00000251102.8_Missense_Mutation_p.F872S Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 872 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CATCACAGAGAAAGCAAAGAC 0.567000 7 158 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 44 37 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29588854 29588854 + Missense_Mutation SNP A A G TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr17:29588854A>G ENST00000358273.4 + 35 5086 c.4703A>G c.(4702-4704)aAg>aGg p.K1568R NF1_ENST00000356175.3_Missense_Mutation_p.K1547R NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1568 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ACCAGTTCAAAGTTTGAGGAA 0.428000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 55 0 0 1 0 0 SKIL 6498 broad.mit.edu 37 3 170078419 170078419 + Silent SNP G G T TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr3:170078419G>T ENST00000458537.3 + 1 1009 c.300G>T c.(298-300)tcG>tcT p.S100S SKIL_ENST00000426052.2_Silent_p.S80S|SKIL_ENST00000413427.2_Silent_p.S100S|SKIL_ENST00000259119.4_Silent_p.S100S NM_001145097.2|NM_001248008.1|NM_005414.4 NP_001138569.1|NP_001234937.1|NP_005405.2 P12757 SKIL_HUMAN SKI-like oncogene 100 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 25 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) GTCAGAGCTCGCTGGGTGGAC 0.463000 4 167 0.150653 0.150653 1 1 0 LRRC30 339291 broad.mit.edu 37 18 7231664 7231664 + Silent SNP G G A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr18:7231664G>A ENST00000383467.2 + 1 542 c.528G>A c.(526-528)gcG>gcA p.A176A NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 176 p.A176A(1) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 ACTTCTTCGCGCACATCCCCA 0.552000 8 133 0 0 1 0 0 UNC93A 54346 broad.mit.edu 37 6 167728844 167728844 + Silent SNP G G A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr6:167728844G>A ENST00000230256.3 + 8 1453 c.1278G>A c.(1276-1278)ggG>ggA p.G426G UNC93A_ENST00000366829.2_Silent_p.G384G NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) 426 integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TGGCGTATGGGCTTGTGGAGT 0.542000 14 304 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86474101 86474101 + Missense_Mutation SNP T T A TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr9:86474101T>A ENST00000297814.2 - 14 3263 c.3120A>T c.(3118-3120)aaA>aaT p.K1040N RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|RP11-575L7.4_ENST00000586206.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.K943N|RP11-575L7.4_ENST00000592283.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.K974N|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 1040 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 CATTTTTAAGTTTTTCATCCA 0.398000 4 71 0 0 1 0 0 IRAK2 3656 broad.mit.edu 37 3 10258686 10258686 + Missense_Mutation SNP A A G TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr3:10258686A>G ENST00000256458.4 + 7 947 c.857A>G c.(856-858)tAc>tGc p.Y286C NM_001570.3 NP_001561.3 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 286 Protein kinase. activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1) 25 AGCTTCATCTACCCCTACATG 0.567000 4 141 0 0 1 0 0 C1QA 712 broad.mit.edu 37 1 22965379 22965379 + Frame_Shift_Del DEL C C - TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr1:22965379delC ENST00000374642.3 + 3 421 c.217delC c.(217-219)ctfs p.P73fs C1QA_ENST00000402322.1_Frame_Shift_Del_p.P73fs NM_015991.2 NP_057075.1 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 73 Collagen-like. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCAGGGGGAACCTGGGCCCTC 0.647 2 4 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152128169 152128172 + Frame_Shift_Del DEL TGTC TGTC - TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr1:152128169_152128172delTGTC ENST00000316073.3 - 3 1467_1470 c.1403_1406delGACA c.(1402-1407)aafs p.RQ468fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 468 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTCTGGCCTTGTCTGTCTGTCTG 0.500 8 1346 --- --- --- --- ALMS1P 0 broad.mit.edu 37 2 73911485 73911486 + RNA INS - - TCC TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr2:73911485_73911486insTCC ENST00000450720.1 + 0 985 NR_003683.2 CCAGCTTCTGGtcctcctcctc 0.525 3 3 --- --- --- --- FZD10 11211 broad.mit.edu 37 12 130647501 130647502 + Frame_Shift_Ins INS - - C TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr12:130647501_130647502insC ENST00000229030.4 + 1 498_499 c.14_15insC c.(13-15)gccfs p.A5fs FZD10_ENST00000539839.1_5'UTR Q9ULW2 FZD10_HUMAN frizzled family receptor 10 5 brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1) 35 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) CAGCGCCCGGGCCCCCGCCTGT 0.743 3 6 --- --- --- --- RP11-420N3.2 0 broad.mit.edu 37 16 6033866 6033868 + RNA DEL TCC TCC - TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr16:6033866_6033868delTCC ENST00000569895.1 + 0 436 cttccttctttcctcctcctcct 0.586 4 7 --- --- --- --- CDC42EP4 23580 broad.mit.edu 37 17 71281585 71281587 + In_Frame_Del DEL TCC TCC - TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr17:71281585_71281587delTCC ENST00000335793.3 - 2 1447_1449 c.1053_1055delGGA c.(1051-1056)gat>ga p.ED351del CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del|CDC42EP4_ENST00000581014.1_3'UTR Q9H3Q1 BORG4_HUMAN CDC42 effector protein (Rho GTPase binding) 4 351 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1) 14 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) ACGGATTTCATCCTCCTCCTCCT 0.640 7 220 --- --- --- --- RP11-157P23.2 0 broad.mit.edu 37 18 45082567 45082568 + RNA INS - - C rs113242872 TCGA-EL-A3GV-01A-11D-A21A-08 TCGA-EL-A3GV-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0607b9ab-6780-4f97-8f16-01db4da45f1b 5ca70273-84f4-4fa2-ba3a-8aca89e0fe63 g.chr18:45082567_45082568insC ENST00000565127.1 + 0 515 CCAGCATGAGGCCCCCCCCAAT 0.569 2 4 --- --- --- ---