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 NISCH 11188 broad.mit.edu 37 3 52521842 52521842 + Silent SNP G G T rs150301138 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr3:52521842G>T ENST00000345716.4 + 16 2468 c.2334G>T c.(2332-2334)ctG>ctT p.L778L NISCH_ENST00000479054.1_Silent_p.L778L NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 778 Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) TGCCGGAGCTGTGTCTGGTGC 0.597000 11 23 0.0809354 0.0859938 1 1 0 ACOT12 134526 broad.mit.edu 37 5 80643655 80643655 + Silent SNP G G A rs149420016 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr5:80643655G>A ENST00000307624.3 - 6 619 c.591C>T c.(589-591)caC>caT p.H197H NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 197 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) ATGTATTTCCGTGATGGTTTG 0.488000 82 146 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76457712 76457712 + Nonsense_Mutation SNP G G A TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr17:76457712G>A ENST00000389840.5 - 58 9335 c.9211C>T c.(9211-9213)Cag>Tag p.Q3071* DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Q3080* dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCGACCACCTGGATCAGTTGG 0.527000 5 12 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 47 49 0 0 1 0 0 IGHV1OR16-3 28313 broad.mit.edu 37 16 32070612 32070612 + RNA SNP A A C TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr16:32070612A>C ENST00000566806.1 - 0 499 GGTCTCCTGCAAGGCTTCTGG 0.552000 3 46 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219247721 219247721 + Missense_Mutation SNP G G T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr2:219247721G>T ENST00000233202.6 + 2 386 c.46G>T c.(46-48)Ggt>Tgt p.G16C SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_5'UTR NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 16 Pro/Ser-rich. activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTCCAGCTATGGTTCCATCTc 0.597000 3 29 6.4e-05 7.25333e-05 1 1 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 4 77 0 0 1 0 0 SSFA2 6744 broad.mit.edu 37 2 182784164 182784164 + Silent SNP C C T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr2:182784164C>T ENST00000431877.2 + 14 3314 c.3135C>T c.(3133-3135)tcC>tcT p.S1045S SSFA2_ENST00000428267.2_Silent_p.S892S|SSFA2_ENST00000409136.1_Silent_p.S554S|SSFA2_ENST00000409001.1_Silent_p.S1045S|SSFA2_ENST00000320370.7_Silent_p.S1045S|SSFA2_ENST00000467172.2_3'UTR NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 1045 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCCGCTCCTCCGCACTCATGG 0.527000 4 116 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148004602 148004602 + Missense_Mutation SNP C C A TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr1:148004602C>A ENST00000369219.1 - 22 2728 c.2712G>T c.(2710-2712)ttG>ttT p.L904F Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 904 NBPF 10. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) TTGTCACCGTCAAAGTAAAAA 0.468000 19 212 1.75199e-13 2.29106e-13 1 1 0 MEFV 4210 broad.mit.edu 37 16 3293588 3293588 + Silent SNP C C T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr16:3293588C>T ENST00000219596.1 - 10 1938 c.1899G>A c.(1897-1899)ccG>ccA p.P633P MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 633 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CAAATCTTTGCGGGCCATCAG 0.517000 7 219 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100961724 100961724 + Missense_Mutation SNP G G C TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr9:100961724G>C ENST00000375066.5 - 13 2784 c.2693C>G c.(2692-2694)tCc>tGc p.S898C TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.S691C|TBC1D2_ENST00000375063.1_Missense_Mutation_p.S449C NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 909 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) TCTGCGCCGGGATGCCCGCCT 0.677000 6 97 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100961724 100961724 + Missense_Mutation SNP G G C TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr9:100961724G>C ENST00000375066.5 - 13 2784 c.2693C>G c.(2692-2694)tCc>tGc p.S898C TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000375063.1_Missense_Mutation_p.S449C|TBC1D2_ENST00000342112.5_Missense_Mutation_p.S691C NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 909 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) TCTGCGCCGGGATGCCCGCCT 0.677000 6 97 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52521842 52521842 + Silent SNP G G T rs150301138 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr3:52521842G>T ENST00000345716.4 + 16 2468 c.2334G>T c.(2332-2334)ctG>ctT p.L778L NISCH_ENST00000479054.1_Silent_p.L778L NM_007184.3 NP_009115.2 Q9Y2I1 NISCH_HUMAN nischarin 778 Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity). apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) TGCCGGAGCTGTGTCTGGTGC 0.597000 11 23 0.0809354 0.0809354 1 1 0 MEFV 4210 broad.mit.edu 37 16 3293588 3293588 + Silent SNP C C T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr16:3293588C>T ENST00000219596.1 - 10 1938 c.1899G>A c.(1897-1899)ccG>ccA p.P633P MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P|MEFV_ENST00000541159.1_3'UTR NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 633 B30.2/SPRY. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CAAATCTTTGCGGGCCATCAG 0.517000 7 219 0 0 1 0 0 ACOT12 134526 broad.mit.edu 37 5 80643655 80643655 + Silent SNP G G A rs149420016 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr5:80643655G>A ENST00000307624.3 - 6 619 c.591C>T c.(589-591)caC>caT p.H197H NM_130767.2 NP_570123.1 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 197 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2) 23 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) ATGTATTTCCGTGATGGTTTG 0.488000 82 146 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76457712 76457712 + Nonsense_Mutation SNP G G A TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr17:76457712G>A ENST00000389840.5 - 58 9335 c.9211C>T c.(9211-9213)Cag>Tag p.Q3071* DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.Q3080* dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCGACCACCTGGATCAGTTGG 0.527000 5 12 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T C rs121913233 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr11:533874T>C ENST00000417302.1 - 3 369 c.182A>G c.(181-183)cAg>cGg p.Q61R HRAS_ENST00000397594.1_Missense_Mutation_p.Q61R|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61R|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61R|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61R NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(136)|p.Q61L(117)|p.Q61P(3) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597000 Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG) 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 47 49 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219247721 219247721 + Missense_Mutation SNP G G T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr2:219247721G>T ENST00000233202.6 + 2 386 c.46G>T c.(46-48)Ggt>Tgt p.G16C SLC11A1_ENST00000539932.1_5'UTR|SLC11A1_ENST00000473367.1_3'UTR NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 16 Pro/Ser-rich. activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTCCAGCTATGGTTCCATCTc 0.597000 3 29 6.4e-05 7.25333e-05 1 1 0 SSFA2 6744 broad.mit.edu 37 2 182784164 182784164 + Silent SNP C C T TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr2:182784164C>T ENST00000431877.2 + 14 3314 c.3135C>T c.(3133-3135)tcC>tcT p.S1045S SSFA2_ENST00000409136.1_Silent_p.S554S|SSFA2_ENST00000409001.1_Silent_p.S1045S|SSFA2_ENST00000320370.7_Silent_p.S1045S|SSFA2_ENST00000467172.2_3'UTR|SSFA2_ENST00000428267.2_Silent_p.S892S NM_001130445.1 NP_001123917.1 P28290 SSFA2_HUMAN sperm specific antigen 2 1045 cytoplasm|plasma membrane actin binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 38 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TCCGCTCCTCCGCACTCATGG 0.527000 4 116 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 4 80 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148004602 148004602 + Missense_Mutation SNP C C A TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr1:148004602C>A ENST00000369219.1 - 22 2728 c.2712G>T c.(2710-2712)ttG>ttT p.L904F Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 904 NBPF 10. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) TTGTCACCGTCAAAGTAAAAA 0.468000 19 212 1.75199e-13 2.12741e-13 1 1 0 PRG4 10216 broad.mit.edu 37 1 186274011 186274012 + Frame_Shift_Ins INS - - AA TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr1:186274011_186274012insAA ENST00000445192.2 + 6 600_601 c.555_556insAA c.(553-558)tcaaaafs p.SK185fs PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367483.4_Frame_Shift_Ins_p.SK144fs|PRG4_ENST00000367484.3_Frame_Shift_Ins_p.SK144fs NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 185 Ser-rich. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TCAAGTCTTCCAAAAATTCAGC 0.337 38 65 --- --- --- --- RP11-360K13.1 0 broad.mit.edu 37 11 96514998 96514999 + RNA INS - - A rs112766481 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr11:96514998_96514999insA ENST00000527528.1 + 0 158 GCTTAGTTATTaaaaaaaaaaa 0.366 3 6 --- --- --- --- JPH4 84502 broad.mit.edu 37 14 24046493 24046493 + Frame_Shift_Del DEL C C - TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr14:24046493delC ENST00000397118.3 - 3 1072 c.170delG c.(169-171)gcfs p.G58fs JPH4_ENST00000356300.4_Frame_Shift_Del_p.G58fs NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 58 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) GCTGTGTCCGCCGGGCCCCGT 0.731 2 4 --- --- --- --- NKD1 85407 broad.mit.edu 37 16 50664747 50664747 + Frame_Shift_Del DEL C C - TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr16:50664747delC ENST00000268459.3 + 8 845 c.621delC c.(619-621)agfs p.S207fs NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 207 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) ACCTGCAGAGCGCAAGGCCCC 0.652 2 4 --- --- --- --- WDR18 57418 broad.mit.edu 37 19 990349 990349 + Frame_Shift_Del DEL G G - TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-10A-01D-A35B-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d ce04400e-4148-4408-a9f5-a4ddaca639f9 g.chr19:990349delG ENST00000251289.5 + 4 605 c.582delG c.(580-582)ctfs p.L194fs WDR18_ENST00000587001.2_Frame_Shift_Del_p.L194fs NM_024100.3 NP_077005.2 Q9BV38 WDR18_HUMAN WD repeat domain 18 194 endometrium(1)|kidney(2)|lung(2)|skin(2) 7 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTCCTCACTGGACCAGACGG 0.701 3 5 --- --- --- --- PRG4 10216 broad.mit.edu 37 1 186274011 186274012 + Frame_Shift_Ins INS - - AA TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr1:186274011_186274012insAA ENST00000445192.2 + 6 600_601 c.555_556insAA c.(553-558)tcaaaafs p.SK185fs PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367483.4_Frame_Shift_Ins_p.SK144fs|PRG4_ENST00000367484.3_Frame_Shift_Ins_p.SK144fs NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 185 Ser-rich. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 TCAAGTCTTCCAAAAATTCAGC 0.337 38 65 --- --- --- --- CASP8AP2 9994 broad.mit.edu 37 6 90556398 90556398 + RNA DEL T T - TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr6:90556398delT ENST00000551025.1 + 0 1492 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TCTAAtttccttttttttttt 0.418 2 4 --- --- --- --- NKD1 85407 broad.mit.edu 37 16 50664747 50664747 + Frame_Shift_Del DEL C C - TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr16:50664747delC ENST00000268459.3 + 8 845 c.621delC c.(619-621)agfs p.S207fs NM_033119.4 NP_149110.1 Q969G9 NKD1_HUMAN naked cuticle homolog 1 (Drosophila) 207 Wnt receptor signaling pathway cytoplasm|plasma membrane calcium ion binding|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2) 23 all_cancers(37;0.229) GBM - Glioblastoma multiforme(240;0.243) ACCTGCAGAGCGCAAGGCCCC 0.652 2 4 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21142441 21142442 + RNA INS - - A rs71715453 TCGA-P8-A5KD-01A-11D-A35D-08 TCGA-P8-A5KD-11A-11D-A35D-08 Untested Somatic Phase_I WXS none Illumina GAIIx d6d1ab98-19a0-40b0-ba01-e55a51c61b0d d985c4ed-4c78-44f0-9254-35266677f568 g.chr20:21142441_21142442insA ENST00000591761.1 - 0 5142 PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA TTCATTTCTGGAAAAAAAAAAA 0.366 3 4 --- --- --- ---