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 CLCA2 9635 broad.mit.edu 37 1 86916415 86916415 + Splice_Site SNP C C T rs140158852 TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr1:86916415C>T ENST00000370565.4 + 12 2316 c.2154C>T c.(2152-2154)aaC>aaT p.N718N CLCA2_ENST00000498802.1_3'UTR NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 718 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity p.N718N(1) NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) ACACAGCAAACGGTAAGAACC 0.448 31 203 --- --- --- --- SEMA6C 10500 broad.mit.edu 37 1 151105861 151105861 + Missense_Mutation SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr1:151105861C>T ENST00000341697.3 - 19 3583 c.1892G>A c.(1891-1893)cGc>cAc p.R631H Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 631 integral to membrane receptor activity p.R631H(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCGGTGGGCGCGGCGACAAGC 0.716 3 24 --- --- --- --- HMCN1 83872 broad.mit.edu 37 1 185880818 185880818 + Missense_Mutation SNP A A C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr1:185880818A>C ENST00000271588.4 + 6 1035 c.806A>C c.(805-807)aAa>aCa p.K269T HMCN1_ENST00000367492.2_Missense_Mutation_p.K269T NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 269 response to stimulus|visual perception basement membrane calcium ion binding p.K269T(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 AAGCTGATAAAAAAGGGATTT 0.393 24 389 --- --- --- --- CPS1 1373 broad.mit.edu 37 2 211421556 211421556 + Silent SNP A A G TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr2:211421556A>G ENST00000233072.5 + 1 295 c.99A>G c.(97-99)agA>agG p.R33R CPS1_ENST00000430249.2_Silent_p.R39R NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 33 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.R33R(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) AATTTTCAAGACCTGGCATCA 0.403 13 235 --- --- --- --- ABCA12 26154 broad.mit.edu 37 2 215914419 215914419 + Missense_Mutation SNP G G T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr2:215914419G>T ENST00000272895.7 - 6 843 c.624C>A c.(622-624)aaC>aaA p.N208K NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 208 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.N208K(1) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GGCAAAATTTGTTAAAAACAT 0.383 28 103 --- --- --- --- LOC101929006 101929006 broad.mit.edu 37 6 29231318 29231318 + RNA SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr6:29231318G>A ENST00000441381.1 + 0 79 p.S180F(1) GACCATTGCAGATATTTCACA 0.433 48 118 --- --- --- --- MICB 4277 broad.mit.edu 37 6 31477560 31477560 + Splice_Site SNP G G T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr6:31477560G>T ENST00000252229.6 + 6 1105 c.1026G>T c.(1024-1026)gaG>gaT p.E342D MICB_ENST00000538442.1_Splice_Site_p.E310D|MICB_ENST00000399150.3_Splice_Site_p.E299D NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 342 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding p.E342D(1) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 CTTCTCCAGAGCTTGTGAGCC 0.522 30 136 --- --- --- --- FAM83B 222584 broad.mit.edu 37 6 54735357 54735357 + Missense_Mutation SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr6:54735357G>A ENST00000306858.7 + 2 429 c.313G>A c.(313-315)Gac>Aac p.D105N NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 105 p.D105N(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TCCAAATCTTGACTTAGGCTG 0.463 114 216 --- --- --- --- COL21A1 81578 broad.mit.edu 37 6 56035897 56035897 + Missense_Mutation SNP C C A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr6:56035897C>A ENST00000244728.5 - 4 1067 c.670G>T c.(670-672)Gca>Tca p.A224S COL21A1_ENST00000370819.1_Missense_Mutation_p.A224S|COL21A1_ENST00000535941.1_Missense_Mutation_p.A224S NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 224 cell adhesion collagen|cytoplasm structural molecule activity p.A224S(2) breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) TCACGAGCTGCCACTGGAATT 0.318 36 92 --- --- --- --- TTYH3 80727 broad.mit.edu 37 7 2698620 2698620 + Missense_Mutation SNP C C G TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr7:2698620C>G ENST00000258796.7 + 13 1676 c.1471C>G c.(1471-1473)Ctc>Gtc p.L491V TTYH3_ENST00000407643.1_Missense_Mutation_p.L459V|TTYH3_ENST00000403167.1_Missense_Mutation_p.L320V NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 491 chloride channel complex|plasma membrane chloride channel activity p.L491V(1) kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) GAACACCCCACTCATTGGGCG 0.647 16 175 --- --- --- --- KMT2C 58508 broad.mit.edu 37 7 151845693 151845693 + Missense_Mutation SNP T T C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr7:151845693T>C ENST00000355193.2 - 53 13708 c.13490A>G c.(13489-13491)tAt>tGt p.Y4497C KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C lysine (K)-specific methyltransferase 2C p.Y4497C(1)|p.Y4440C(1) CTGAGTCTCATAGACCTCCGT 0.507 70 195 --- --- --- --- ARHGEF39 84904 broad.mit.edu 37 9 35662634 35662634 + Missense_Mutation SNP G G T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr9:35662634G>T ENST00000378387.3 - 7 895 c.778C>A c.(778-780)Cct>Act p.P260T ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Missense_Mutation_p.P224T|ARHGEF39_ENST00000490970.1_5'UTR NM_032818.2 NP_116207.2 Rho guanine nucleotide exchange factor (GEF) 39 p.P260T(1) GGAGGCCGAGGCTTGGCCATG 0.632 21 23 --- --- --- --- ARHGEF39 84904 broad.mit.edu 37 9 35662635 35662635 + Silent SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr9:35662635C>T ENST00000378387.3 - 7 894 c.777G>A c.(775-777)aaG>aaA p.K259K ARHGEF39_ENST00000343259.3_Intron|ARHGEF39_ENST00000378395.2_Silent_p.K223K|ARHGEF39_ENST00000490970.1_5'UTR NM_032818.2 NP_116207.2 Rho guanine nucleotide exchange factor (GEF) 39 p.K259K(1) GAGGCCGAGGCTTGGCCATGA 0.632 20 23 --- --- --- --- ROR2 4920 broad.mit.edu 37 9 94486051 94486051 + Missense_Mutation SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr9:94486051C>T ENST00000375708.3 - 9 2923 c.2725G>A c.(2725-2727)Gtg>Atg p.V909M ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 909 negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.V909M(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 GCTTCCTGCACGGTGCTCTGG 0.637 39 185 --- --- --- --- TTLL11 158135 broad.mit.edu 37 9 124752018 124752018 + Missense_Mutation SNP C C A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr9:124752018C>A ENST00000321582.5 - 4 1182 c.995G>T c.(994-996)tGg>tTg p.W332L TTLL11_ENST00000373776.3_Missense_Mutation_p.W332L|TTLL11_ENST00000474723.1_5'UTR NM_001139442.1 NP_001132914.1 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 332 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity p.W332L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 AGTGGGCTTCCAGGAGGGGTC 0.512 66 240 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129900972 129900972 + Silent SNP G G C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr10:129900972G>C ENST00000368654.3 - 13 9507 c.9132C>G c.(9130-9132)ccC>ccG p.P3044P MKI67_ENST00000368653.3_Silent_p.P2684P NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 3044 cell proliferation nucleolus ATP binding|protein C-terminus binding p.P3044P(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) TGATGACCACGGGTTCGGATG 0.517 10 296 --- --- --- --- EED 8726 broad.mit.edu 37 11 85968564 85968564 + Missense_Mutation SNP T T G TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr11:85968564T>G ENST00000263360.6 + 6 1246 c.560T>G c.(559-561)gTt>gGt p.V187G EED_ENST00000351625.6_Missense_Mutation_p.V187G|EED_ENST00000528180.1_Missense_Mutation_p.V187G|EED_ENST00000327320.4_Missense_Mutation_p.V187G NM_003797.3 NP_003788.2 O75530 EED_HUMAN embryonic ectoderm development 187 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding p.V187G(1) haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 21 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) TAGCACTATGTTGGCCATGGA 0.303 4 90 --- --- --- --- PKP2 5318 broad.mit.edu 37 12 32975445 32975445 + Missense_Mutation SNP T T C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr12:32975445T>C ENST00000340811.4 - 8 1903 c.1795A>G c.(1795-1797)Aaa>Gaa p.K599E PKP2_ENST00000070846.6_Missense_Mutation_p.K643E NM_001005242.2 NP_001005242.2 Q99959 PKP2_HUMAN plakophilin 2 643 cell-cell adhesion desmosome|integral to membrane|nucleus binding p.K643E(1) NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 50 Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) CCAATACTTTTGTTGTTGTCA 0.403 11 125 --- --- --- --- DNAH10 196385 broad.mit.edu 37 12 124395093 124395093 + Silent SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr12:124395093G>A ENST00000409039.3 + 58 9679 c.9654G>A c.(9652-9654)aaG>aaA p.K3218K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3218 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.K1810K(1)|p.K3218K(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GCCTCTTGAAGACTCTTAATA 0.388 12 219 --- --- --- --- TYRO3 7301 broad.mit.edu 37 15 41860444 41860444 + Missense_Mutation SNP G G A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr15:41860444G>A ENST00000263798.3 + 8 1215 c.991G>A c.(991-993)Gcc>Acc p.A331T TYRO3_ENST00000559066.1_Missense_Mutation_p.A286T NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 331 Fibronectin type-III 2. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.A331T(1)|p.A323T(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) AAACCTCCATGCCATCCGCAC 0.572 17 74 --- --- --- --- SMAD3 4088 broad.mit.edu 37 15 67477178 67477178 + Missense_Mutation SNP G G T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr15:67477178G>T ENST00000327367.4 + 7 1295 c.985G>T c.(985-987)Gcc>Tcc p.A329S SMAD3_ENST00000540846.2_Missense_Mutation_p.A224S|SMAD3_ENST00000537194.2_Missense_Mutation_p.A134S|SMAD3_ENST00000439724.3_Missense_Mutation_p.A285S NM_005902.3 NP_005893.1 P84022 SMAD3_HUMAN SMAD family member 3 329 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding p.A329S(1) autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) CTGGCACCCGGCCACCGTCTG 0.597 7 36 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93524064 93524064 + Missense_Mutation SNP G G C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr15:93524064G>C ENST00000394196.4 + 23 3964 c.2896G>C c.(2896-2898)Gaa>Caa p.E966Q CHD2_ENST00000557381.1_Missense_Mutation_p.E966Q NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 966 Glu-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding p.E966Q(2) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TTTTAATAAAGAAGAGCTGAC 0.368 12 105 --- --- --- --- SMARCE1 6605 broad.mit.edu 37 17 38792754 38792754 + Missense_Mutation SNP T T C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr17:38792754T>C ENST00000348513.6 - 6 1042 c.262A>G c.(262-264)Aac>Gac p.N88D SMARCE1_ENST00000400122.3_Missense_Mutation_p.N18D|SMARCE1_ENST00000578044.1_Missense_Mutation_p.N18D|SMARCE1_ENST00000431889.2_Missense_Mutation_p.N70D|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000580419.1_Missense_Mutation_p.N53D|SMARCE1_ENST00000377808.4_Missense_Mutation_p.N53D|SMARCE1_ENST00000544009.1_Missense_Mutation_p.N18D NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 88 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity p.N88D(1) large_intestine(1) 1 Breast(137;0.000812) AGGTCAGGGTTGGAAGCCTTT 0.363 68 179 --- --- --- --- NAGS 162417 broad.mit.edu 37 17 42085837 42085837 + Silent SNP C C T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr17:42085837C>T ENST00000293404.3 + 7 1591 c.1473C>T c.(1471-1473)ggC>ggT p.G491G NM_153006.2 NP_694551.1 Q8N159 NAGS_HUMAN N-acetylglutamate synthase 491 N-acetyltransferase. arginine biosynthetic process|urea cycle mitochondrial matrix acetyl-CoA:L-glutamate N-acetyltransferase activity p.G491G(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 8 Breast(137;0.00536)|Prostate(33;0.0724) BRCA - Breast invasive adenocarcinoma(366;0.113) L-Glutamic Acid(DB00142) ACAGTGATGGCAGCTTCTCCA 0.498 27 320 --- --- --- --- DDX42 11325 broad.mit.edu 37 17 61864525 61864525 + Missense_Mutation SNP T T C TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr17:61864525T>C ENST00000578681.1 + 3 717 c.116T>C c.(115-117)tTt>tCt p.F39S DDX42_ENST00000457800.2_Missense_Mutation_p.F39S|DDX42_ENST00000389924.2_Missense_Mutation_p.F39S|DDX42_ENST00000583590.1_Missense_Mutation_p.F39S|DDX42_ENST00000359353.5_Intron NM_007372.2 NP_031398.2 Q86XP3 DDX42_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 42 39 protein localization|regulation of anti-apoptosis Cajal body|cytoplasm|nuclear speck ATP binding|ATP-dependent helicase activity|protein binding|RNA binding p.F39S(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3) 46 CACAGTGCCTTTGGGGCAACC 0.502 15 222 --- --- --- --- WDR7 23335 broad.mit.edu 37 18 54591238 54591238 + Silent SNP G G A rs149456946 byFrequency TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr18:54591238G>A ENST00000254442.3 + 22 3823 c.3612G>A c.(3610-3612)ctG>ctA p.L1204L WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.L1171L NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1204 p.L1204L(1) NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) CCATTGATCTGATTGGACGTG 0.498 10 122 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9056757 9056757 + Missense_Mutation SNP G G T TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr19:9056757G>T ENST00000397910.4 - 3 30892 c.30689C>A c.(30688-30690)cCc>cAc p.P10230H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10232 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.P5863H(1)|p.P10230H(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 AGCATTAAAGGGGGTGATTAT 0.448 10 94 --- --- --- --- GPR112 139378 broad.mit.edu 37 X 135431329 135431329 + Missense_Mutation SNP C C A TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chrX:135431329C>A ENST00000394143.1 + 6 5755 c.5464C>A c.(5464-5466)Cca>Aca p.P1822T GPR112_ENST00000412101.1_Missense_Mutation_p.P1617T|GPR112_ENST00000370652.1_Missense_Mutation_p.P1822T|GPR112_ENST00000394141.1_Missense_Mutation_p.P1617T|GPR112_ENST00000287534.4_Missense_Mutation_p.P1759T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 1822 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.P1822T(1) NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) TTCATACCCTCCATGGACCCC 0.408 15 143 --- --- --- --- PLAU 5328 broad.mit.edu 37 10 75673298 75673298 + Splice_Site DEL A A - TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr10:75673298delA ENST00000446342.1 + 6 893 c.411delA c.(409-411)gga>gg p.G137fs PLAU_ENST00000372764.3_Splice_Site_p.G154fs|C10orf55_ENST00000412307.2_Intron|C10orf55_ENST00000409178.1_Intron|PLAU_ENST00000372762.4_Splice_Site_p.G118fs|PLAU_ENST00000494287.1_3'UTR NM_001145031.1 NP_001138503 P00749 UROK_HUMAN plasminogen activator, urokinase 154 Kringle. blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction cell surface|extracellular space|plasma membrane serine-type endopeptidase activity cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2) 16 Prostate(51;0.0112) Amiloride(DB00594)|Urokinase(DB00013) GTCCTCCAGGAAAAAAGCCCT 0.517 7 790 --- --- --- --- ARHGAP11A 9824 broad.mit.edu 37 15 32920998 32921007 + Splice_Site DEL GAATTGGTAG GAATTGGTAG - TCGA-EJ-5524-01A-01D-1576-08 TCGA-EJ-5524-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx fb32ee2b-3ed2-4a8b-a7ed-89ef4bef7661 75bec014-53c0-49e0-88d8-fcd261d22ec1 g.chr15:32920998_32921007delGAATTGGTAG ENST00000361627.3 + 7 1654_1659 c.932_937delGAATTGGTAG c.(931-939)agaattggt>agt p.RIG311fs ARHGAP11A_ENST00000565905.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000543522.1_Splice_Site_p.RIG122fs|ARHGAP11A_ENST00000563864.1_Splice_Site_p.RIG311fs|ARHGAP11A_ENST00000567348.1_Splice_Site_p.RIG311fs NM_014783.3 NP_055598.1 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A 311 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.A313P(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) CAAGAAGAAAGAATTGGTAGGTATTTATTA 0.238 13 141 --- --- --- ---