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 ELMSAN1 91748 broad.mit.edu 37 14 74188154 74188154 + Missense_Mutation SNP C C A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr14:74188154C>A ENST00000286523.5 - 11 3565 c.2783G>T c.(2782-2784)aGg>aTg p.R928M ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R928M NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 GGGCTCCAGCCTCTCTTCACT 0.587000 12 12 3.07112e-06 3.19908e-06 1 1 0 IL5RA 0 broad.mit.edu 37 3 3146598 3146598 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr3:3146598G>A ENST00000446632.2 - 3 645 c.71C>T c.(70-72)cCt>cTt p.P24L IL5RA_ENST00000456302.1_Missense_Mutation_p.P24L|IL5RA_ENST00000430514.2_Missense_Mutation_p.P24L|IL5RA_ENST00000418488.2_Missense_Mutation_p.P24L|IL5RA_ENST00000383846.1_Missense_Mutation_p.P24L|IL5RA_ENST00000438560.1_Missense_Mutation_p.P24L|IL5RA_ENST00000311981.8_Missense_Mutation_p.P24L|IL5RA_ENST00000256452.3_Missense_Mutation_p.P24L|IL5RA_ENST00000445864.2_Missense_Mutation_p.P24L NM_175726.3 NP_783853.1 Q01344 IL5RA_HUMAN interleukin 5 receptor, alpha 24 cell proliferation extracellular space|integral to membrane|plasma membrane interleukin-5 receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2) 24 Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944) CTTTTCATCAGGAAGTAAGTC 0.343000 29 65 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155458639 155458639 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr6:155458639G>A ENST00000461783.3 + 7 2796 c.1523G>A c.(1522-1524)cGg>cAg p.R508Q TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 508 PH 1. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) GGGGTGGTCCGGAAGGCCGGG 0.542000 3 70 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20685472 20685472 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr7:20685472G>A ENST00000404938.2 + 8 1424 c.772G>A c.(772-774)Gcc>Acc p.A258T NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 444 ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 AACAGTCATAGCCTTTAGGGC 0.408000 48 49 0 0 1 0 0 FAM103A1 83640 broad.mit.edu 37 15 83657865 83657865 + Missense_Mutation SNP G G A rs150238339 TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr15:83657865G>A ENST00000304191.3 + 3 316 c.95G>A c.(94-96)cGc>cAc p.R32H C15orf40_ENST00000538348.2_Silent_p.G137G|RP11-382A20.5_ENST00000566841.1_RNA NM_031452.3 NP_113640.1 Q9BTL3 F103A_HUMAN family with sequence similarity 103, member A1 32 prostate(1) 1 TACCTGAAACGCCCTCCTGAG 0.428000 35 25 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93522490 93522490 + Silent SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr15:93522490G>A ENST00000394196.4 + 22 3921 c.2853G>A c.(2851-2853)ctG>ctA p.L951L CHD2_ENST00000557381.1_Silent_p.L951L NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 951 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding 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) GGACGATCCTGGAAAACAACT 0.458000 4 121 0 0 1 0 0 NRAS 4893 broad.mit.edu 37 1 115258745 115258745 + Missense_Mutation SNP C C G rs121434595 TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr1:115258745C>G ENST00000369535.4 - 2 290 c.37G>C c.(37-39)Ggt>Cgt p.G13R NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 13 G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCCCAACACCACCTGCTCCA 0.498000 G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 55 71 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30673766 30673766 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr6:30673766G>A ENST00000376406.3 - 10 3841 c.3194C>T c.(3193-3195)cCc>cTc p.P1065L MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.P801L NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1065 Pro-rich. Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 AGAAAGAAGGGGCGGAGGTGC 0.547000 Other conserved DNA damage response genes 73 97 0 0 1 0 0 CYP51A1 1595 broad.mit.edu 37 7 91747893 91747893 + Nonsense_Mutation SNP C C A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr7:91747893C>A ENST00000003100.8 - 8 1288 c.1123G>T c.(1123-1125)Gaa>Taa p.E375* CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E270*|LRRD1_ENST00000422722.1_5'UTR NM_000786.3 NP_000777.1 Q16850 CP51A_HUMAN cytochrome P450, family 51, subfamily A, polypeptide 1 369 cholesterol biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|sterol 14-demethylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 10 all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251) CTTAATGTTTCTTTTATACAG 0.353000 45 56 2.81731e-22 2.97603e-22 1 1 0 EP400 57634 broad.mit.edu 37 12 132551995 132551995 + Silent SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr12:132551995C>T ENST00000333577.4 + 51 9055 c.8946C>T c.(8944-8946)ccC>ccT p.P2982P EP400_ENST00000332482.4_Silent_p.P2909P|EP400_ENST00000330386.6_Silent_p.P2865P|EP400_ENST00000389561.2_Silent_p.P2946P|EP400_ENST00000389562.2_Silent_p.P2945P Q96L91 EP400_HUMAN E1A binding protein p400 2982 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCATCCAGCCCCAGGCTGCAC 0.652000 7 57 0 0 1 0 0 C6orf222 389384 broad.mit.edu 37 6 36297863 36297863 + Missense_Mutation SNP C C T rs140939742 by1000genomes TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr6:36297863C>T ENST00000437635.2 - 2 782 c.605G>A c.(604-606)cGc>cAc p.R202H NM_001010903.4 NP_001010903.3 P0C671 CF222_HUMAN chromosome 6 open reading frame 222 202 breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4) 26 CTCACCCCTGCGAGCTGGGCC 0.642000 4 91 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16610781 16610781 + Splice_Site SNP A A G TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr17:16610781A>G ENST00000443444.2 + 4 804 c.e4-1 RP11-219A15.1_ENST00000448331.3_Splice_Site|CCDC144A_ENST00000340621.5_Intron|CCDC144A_ENST00000399273.1_Splice_Site|CCDC144A_ENST00000360524.8_Splice_Site|CCDC144A_ENST00000456009.1_Splice_Site|CCDC144A_ENST00000436374.1_Splice_Site A2RUR9 C144A_HUMAN coiled-coil domain containing 144A TGGATTTTGCAGCAGAACAAG 0.313000 17 15 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18956124 18956124 + Missense_Mutation SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr11:18956124C>T ENST00000302797.3 - 1 432 c.208G>A c.(208-210)Gca>Aca p.A70T MRGPRX1_ENST00000526914.1_5'UTR NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 70 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AAGTCTGCTGCGGCCAAGTTG 0.532000 50 106 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66765161 66765161 + Missense_Mutation SNP A A T rs71905623 TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chrX:66765161A>T ENST00000374690.3 + 1 697 c.173A>T c.(172-174)cAg>cTg p.Q58L AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 58 Gln-rich.|Modulating.|Poly-Gln. cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding p.Q58L(2) breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) CTGCTGCTgcagcagcagcag 0.667000 Androgen Insensitivity Syndrome 3 34 0 0 1 0 0 PANX3 116337 broad.mit.edu 37 11 124489721 124489721 + Missense_Mutation SNP A A G TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr11:124489721A>G ENST00000284288.2 + 4 1136 c.1069A>G c.(1069-1071)Acc>Gcc p.T357A NM_052959.2 NP_443191.1 Q96QZ0 PANX3_HUMAN pannexin 3 357 protein hexamerization gap junction|integral to membrane gap junction hemi-channel activity|ion channel activity NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1) 26 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219) GGATACAACCACCCAGAAGCA 0.433000 46 65 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8973984 8973984 + Silent SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr19:8973984G>A ENST00000397910.4 - 76 42890 c.42687C>T c.(42685-42687)gaC>gaT p.D14229D MUC16_ENST00000380951.5_Silent_p.D870D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14292 Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding 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 TGTCCTGGATGTCCCTCAGCA 0.498000 3 6 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107312617 107312617 + Silent SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr7:107312617C>T ENST00000265715.3 + 4 563 c.339C>T c.(337-339)gtC>gtT p.V113V NM_000441.1 NP_000432.1 O43511 S26A4_HUMAN solute carrier family 26 (anion exchanger), member 4 113 regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CAGTTCCTGTCGGATATGGTC 0.378000 Pendred syndrome 97 67 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12231056 12231056 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr11:12231056G>A ENST00000256194.4 + 6 890 c.602G>A c.(601-603)cGg>cAg p.R201Q MICAL2_ENST00000527546.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000342902.5_Missense_Mutation_p.R201Q|MICAL2_ENST00000537344.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000379612.3_Missense_Mutation_p.R201Q NM_014632.2 NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 201 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) ATTGGCTGGCGGGCAGAATTT 0.507000 38 15 0 0 1 0 0 FKBP10 60681 broad.mit.edu 37 17 39969425 39969425 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr17:39969425G>A ENST00000321562.4 + 1 243 c.139G>A c.(139-141)Gag>Aag p.E47K NM_021939.3 NP_068758.3 Q96AY3 FKB10_HUMAN FK506 binding protein 10, 65 kDa 47 protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 14 Breast(137;0.00122) BRCA - Breast invasive adenocarcinoma(366;0.148) TGTGGTCATCGAGAGGTACCA 0.642000 48 52 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40902215 40902215 + Missense_Mutation SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr19:40902215C>T ENST00000324001.7 - 7 2314 c.2044G>A c.(2044-2046)Gag>Aag p.E682K PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 682 55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGCTGCACCTCGGGGAGTCGA 0.582000 59 130 0 0 1 0 0 B3GNT7 93010 broad.mit.edu 37 2 232263162 232263162 + Silent SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr2:232263162C>T ENST00000287590.5 + 2 993 c.732C>T c.(730-732)ttC>ttT p.F244F NM_145236.2 NP_660279.1 Q8NFL0 B3GN7_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 244 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1) 17 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139) ATGACGTCTTCGTCAACCCCA 0.567000 5 62 0 0 1 0 0 SYCE1 93426 broad.mit.edu 37 10 135369378 135369378 + Missense_Mutation SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr10:135369378C>T ENST00000368517.3 - 10 655 c.517G>A c.(517-519)Gtg>Atg p.V173M SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.V209M|SYCE1_ENST00000432597.2_Missense_Mutation_p.V173M NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 209 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TGATGCTTCACGTCTTCCAGT 0.597000 8 11 0 0 1 0 0 USP54 159195 broad.mit.edu 37 10 75294484 75294484 + Missense_Mutation SNP T T C TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr10:75294484T>C ENST00000339859.4 - 11 1289 c.1189A>G c.(1189-1191)Acg>Gcg p.T397A USP54_ENST00000319786.7_Missense_Mutation_p.T397A|USP54_ENST00000408019.1_Missense_Mutation_p.T397A|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_Intron|USP54_ENST00000428547.1_Missense_Mutation_p.T247A Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 397 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) TAGCTCTCCGTTGAGGAATCT 0.463000 15 41 0 0 1 0 0 TAAR2 9287 broad.mit.edu 37 6 132938561 132938561 + Nonsense_Mutation SNP T T A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr6:132938561T>A ENST00000275191.2 - 1 756 c.649A>T c.(649-651)Aaa>Taa p.K217* TAAR2_ENST00000537809.1_Nonsense_Mutation_p.K217*|TAAR2_ENST00000367931.1_Nonsense_Mutation_p.K262* NM_014626.3 NP_055441.2 Q9P1P5 TAAR2_HUMAN trace amine associated receptor 2 262 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) CCTAAAGTTTTGGCAGCTTTT 0.328000 12 63 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr17:7578413C>T ENST00000420246.2 - 5 649 c.517G>A c.(517-519)Gtg>Atg p.V173M TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 173 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGCGCCTCACAACCTCCGTC 0.662000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 67 6 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113113 209113113 + Missense_Mutation SNP G G T rs121913499 TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr2:209113113G>T ENST00000415913.1 - 4 775 c.394C>A c.(394-396)Cgt>Agt p.R132S IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) TAAGCATGACGACCTATGATG 0.398000 Mis gliobastoma 60 46 1.02016e-41 1.09302e-41 1 1 0 LRRC66 339977 broad.mit.edu 37 4 52861983 52861983 + Missense_Mutation SNP T T A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr4:52861983T>A ENST00000343457.3 - 4 1211 c.1205A>T c.(1204-1206)gAc>gTc p.D402V NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 402 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 CCACAGTCTGTCAACATAAGG 0.562000 10 68 0 0 1 0 0 PCDHA8 0 broad.mit.edu 37 5 140222719 140222719 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr5:140222719G>A ENST00000531613.1 + 1 1813 c.1813G>A c.(1813-1815)Gcg>Acg p.A605T PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.A605T|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCTACAACGCGTGGCTTTC 0.677000 31 46 0 0 1 0 0 TBP 6908 broad.mit.edu 37 6 170871043 170871043 + Silent SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr6:170871043G>A ENST00000392092.2 + 3 498 c.219G>A c.(217-219)caG>caA p.Q73Q TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 73 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q73Q(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcaacagcaacagcagc 0.562000 3 21 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T T C rs149439944 by1000genomes TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr17:39274291T>C ENST00000391413.2 - 1 315 c.277A>G c.(277-279)Atg>Gtg p.M93V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.M93V(4) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.662000 4 55 0 0 1 0 0 EVC2 132884 broad.mit.edu 37 4 5564756 5564756 + Missense_Mutation SNP A A G TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr4:5564756A>G ENST00000310917.2 - 22 4237 c.3506T>C c.(3505-3507)aTt>aCt p.I1169T EVC2_ENST00000344408.5_Missense_Mutation_p.I1249T|EVC2_ENST00000344938.1_Intron NM_001166136.1 NP_001159608.1 Q86UK5 LBN_HUMAN Ellis van Creveld syndrome 2 1249 integral to membrane NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 81 CAGTTCGCCAATGGGCTCCAG 0.448000 38 142 0 0 1 0 0 CRHR2 1395 broad.mit.edu 37 7 30693147 30693147 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr7:30693147G>A ENST00000471646.1 - 12 1582 c.1165C>T c.(1165-1167)Cgg>Tgg p.R389W CRHR2_ENST00000341843.4_Missense_Mutation_p.R375W|CRHR2_ENST00000348438.4_Missense_Mutation_p.R416W|CRHR2_ENST00000506074.2_3'UTR NM_001202482.1|NM_001202483.1|NM_001883.4 NP_001189411.1|NP_001189412.1|NP_001874.2 Q13324 CRFR2_HUMAN corticotropin releasing hormone receptor 2 389 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding p.R375R(1)|p.R389R(1) breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GACATGGCCCGGGCCATGGGG 0.657000 15 103 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900882 51900882 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr17:51900882G>A ENST00000268919.4 + 1 644 c.488G>A c.(487-489)cGc>cAc p.R163H NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 163 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CGGGAAAAGCGCAGGCGGCTG 0.547000 22 59 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150946625 150946625 + Missense_Mutation SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr5:150946625C>T ENST00000261800.5 - 1 1880 c.1868G>A c.(1867-1869)cGc>cAc p.R623H NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 623 Cadherin 5. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GATAAAAGGGCGTTTGAGGGA 0.403000 33 46 0 0 1 0 0 CD1D 912 broad.mit.edu 37 1 158151456 158151456 + Silent SNP T T C TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr1:158151456T>C ENST00000368171.3 + 3 772 c.273T>C c.(271-273)taT>taC p.Y91Y NM_001766.3 NP_001757.1 P15813 CD1D_HUMAN CD1d molecule 91 antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2) 30 all_hematologic(112;0.0378) TTCGGGTTTATCGAAGCAGCT 0.572000 33 35 0 0 1 0 0 CAMKV 79012 broad.mit.edu 37 3 49899533 49899533 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr3:49899533G>A ENST00000477224.1 - 3 650 c.172C>T c.(172-174)Cgg>Tgg p.R58W CAMKV_ENST00000488336.1_Missense_Mutation_p.R58W|CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000296471.7_Missense_Mutation_p.R58W|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000466940.1_Missense_Mutation_p.R58W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R58W Q8NCB2 CAMKV_HUMAN CaM kinase-like vesicle-associated 58 Protein kinase. cytoplasmic vesicle membrane|plasma membrane ATP binding|protein serine/threonine kinase activity central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2) 7 BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CGGCCGTCCCGCTTCTGGAAC 0.592000 3 17 0 0 1 0 0 SLC4A9 83697 broad.mit.edu 37 5 139740529 139740529 + Silent SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr5:139740529C>T ENST00000230993.6 + 2 470 c.435C>T c.(433-435)tgC>tgT p.C145C SLC4A9_ENST00000506545.1_Silent_p.C121C|SLC4A9_ENST00000432095.2_Silent_p.C121C|SLC4A9_ENST00000506757.2_Silent_p.C121C|SLC4A9_ENST00000507527.1_Silent_p.C145C NM_001258428.1 NP_001245357.1 Q96Q91 B3A4_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 9 145 integral to membrane|plasma membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGACTGCCCAGCTCAGA 0.657000 7 4 0 0 1 0 0 PDE4B 5142 broad.mit.edu 37 1 66384510 66384510 + Missense_Mutation SNP C C G TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr1:66384510C>G ENST00000329654.4 + 3 460 c.273C>G c.(271-273)agC>agG p.S91R PDE4B_ENST00000371049.3_Missense_Mutation_p.S91R NM_001037341.1 NP_001032418.1 Q07343 PDE4B_HUMAN phosphodiesterase 4B, cAMP-specific 91 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 37 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) CAACTGTAAGCCAGGAGTGGT 0.398000 16 42 0 0 1 0 0 PRRC2A 7916 broad.mit.edu 37 6 31604007 31604007 + Silent SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr6:31604007C>T ENST00000376033.2 + 26 5880 c.5646C>T c.(5644-5646)ccC>ccT p.P1882P PRRC2A_ENST00000376007.4_Silent_p.P1882P NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 1882 cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TATACCTACCCCCCGGCCCAG 0.522000 73 71 0 0 1 0 0 EDARADD 128178 broad.mit.edu 37 1 236645901 236645901 + Silent SNP C C T rs74942492 by1000genomes TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr1:236645901C>T ENST00000359362.5 + 6 784 c.570C>T c.(568-570)gaC>gaT p.D190D EDARADD_ENST00000334232.4_Silent_p.D200D NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 200 Death. cell differentiation|signal transduction cytoplasm endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GGTGGGTGGACGAGGAGTGGC 0.602000 51 51 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95188826 95188826 + Nonsense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr8:95188826G>A ENST00000027335.3 - 5 491 c.367C>T c.(367-369)Cga>Tga p.R123* CDH17_ENST00000441892.2_Nonsense_Mutation_p.R123*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.R123* NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 123 Cadherin 1. integral to membrane calcium ion binding p.R123*(1) NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) AACGTGGGTCGATTGTCGTTG 0.493000 34 54 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48703992 48703992 + Silent SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr17:48703992C>T ENST00000352832.5 + 34 7005 c.6633C>T c.(6631-6633)agC>agT p.S2211S CACNA1G_ENST00000514079.1_Silent_p.S2252S|CACNA1G_ENST00000514181.1_Silent_p.S2220S|CACNA1G_ENST00000502264.1_Silent_p.S2267S|CACNA1G_ENST00000505165.1_Silent_p.S2166S|CACNA1G_ENST00000503485.1_Silent_p.S2211S|CACNA1G_ENST00000507510.2_Silent_p.S2293S|CACNA1G_ENST00000507896.1_Silent_p.S2155S|CACNA1G_ENST00000514717.1_Silent_p.S2188S|CACNA1G_ENST00000513689.2_Silent_p.S2248S|CACNA1G_ENST00000510366.1_Silent_p.S2193S|CACNA1G_ENST00000515165.1_Silent_p.S2245S|CACNA1G_ENST00000513964.1_Silent_p.S2200S|CACNA1G_ENST00000359106.5_Silent_p.S2338S|CACNA1G_ENST00000515411.1_Silent_p.S2275S|CACNA1G_ENST00000515765.1_Silent_p.S2282S|CACNA1G_ENST00000512389.1_Silent_p.S2234S|CACNA1G_ENST00000510115.1_Silent_p.S2259S|CACNA1G_ENST00000360761.4_Silent_p.S2222S|CACNA1G_ENST00000429973.2_Silent_p.S2227S|CACNA1G_ENST00000358244.5_Silent_p.S2132S|CACNA1G_ENST00000354983.4_Silent_p.S2304S|CACNA1G_ENST00000507609.1_Silent_p.S2238S|CACNA1G_ENST00000442258.2_Silent_p.S2204S|CACNA1G_ENST00000507336.1_Silent_p.S2327S NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 2338 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity p.S2338R(2)|p.S2304R(1) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CTCCGTCCAGCGACTCCAAGG 0.637000 OREG0024569 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 25 0 0 1 0 0 CPSF3L 54973 broad.mit.edu 37 1 1250944 1250944 + Missense_Mutation SNP C C G TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr1:1250944C>G ENST00000540437.1 - 7 957 c.502G>C c.(502-504)Gcc>Ccc p.A168P CPSF3L_ENST00000545578.1_Missense_Mutation_p.A133P|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A162P|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A64P|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A61P NM_001256456.1 NP_001243385.1 Q5TA45 INT11_HUMAN cleavage and polyadenylation specific factor 3-like 162 Golgi apparatus|nucleus hydrolase activity endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201) TGGAACATGGCTGCCCCCAGC 0.607000 4 78 0 0 1 0 0 PARD6B 84612 broad.mit.edu 37 20 49366587 49366587 + Silent SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr20:49366587C>T ENST00000371610.2 + 3 924 c.681C>T c.(679-681)agC>agT p.S227S PARD6B_ENST00000396039.1_Intron NM_032521.2 NP_115910.1 Q9BYG5 PAR6B_HUMAN par-6 family cell polarity regulator beta 227 Interaction with PARD3 and CDC42 (By similarity).|PDZ. axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1) 11 CAGGGAAGAGCCTTGATCAAG 0.428000 45 63 0 0 1 0 0 MGAT1 4245 broad.mit.edu 37 5 180219007 180219007 + Missense_Mutation SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr5:180219007C>T ENST00000446023.2 - 3 1715 c.965G>A c.(964-966)gGg>gAg p.G322E MGAT1_ENST00000307826.4_Missense_Mutation_p.G322E|MGAT1_ENST00000333055.3_Missense_Mutation_p.G322E|MGAT1_ENST00000393340.3_Missense_Mutation_p.G322E|MGAT1_ENST00000427865.2_Missense_Mutation_p.G322E NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 322 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAAGAACTGCCCGTGGCTCAC 0.602000 15 48 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47944425 47944425 + Splice_Site SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr19:47944425C>T ENST00000236877.6 - 6 2281 c.e6+1 SLC8A2_ENST00000539381.1_Splice_Site|SLC8A2_ENST00000542837.1_Splice_Site|SLC8A2_ENST00000601757.1_Splice_Site NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) ACTTCACTCACCTTGATTGAG 0.577000 18 61 0 0 1 0 0 DBC1 0 broad.mit.edu 37 9 121929632 121929632 + Silent SNP T T C TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr9:121929632T>C ENST00000265922.3 - 8 2477 c.2016A>G c.(2014-2016)gcA>gcG p.A672A DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 672 cell cycle arrest|cell death cytoplasm protein binding p.A672A(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CCTGCTGCACTGCACTGCGCA 0.542000 54 92 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 69364317 69364317 + Missense_Mutation SNP A A G TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr7:69364317A>G ENST00000342771.4 + 2 676 c.355A>G c.(355-357)Acg>Gcg p.T119A AUTS2_ENST00000406775.2_Missense_Mutation_p.T119A|AUTS2_ENST00000403018.2_Missense_Mutation_p.T119A NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 119 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GAAACGCCAGACGCCCCTGAC 0.483000 30 27 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118146 4118146 + Silent SNP G G T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr9:4118146G>T ENST00000324333.10 - 3 1060 c.867C>A c.(865-867)ccC>ccA p.P289P GLIS3_ENST00000381971.3_Silent_p.P444P NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 289 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) gaggcgcggggggTAGGTCTA 0.736000 9 0 2.17888e-05 2.23857e-05 1 1 0 C2orf71 388939 broad.mit.edu 37 2 29295877 29295877 + Silent SNP A A G TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr2:29295877A>G ENST00000331664.5 - 1 1250 c.1251T>C c.(1249-1251)gcT>gcC p.A417A NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 417 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 TTGCCATAGGAGCCCCTGAGA 0.582000 34 59 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23857416 23857416 + Missense_Mutation SNP C C T rs142556730 TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr14:23857416C>T ENST00000405093.3 - 30 4377 c.4307G>A c.(4306-4308)cGc>cAc p.R1436H MYH6_ENST00000356287.3_Missense_Mutation_p.R1436H NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1436 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) AGCATTGGAGCGCTCTACGTC 0.587000 20 92 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11157235 11157235 + Silent SNP C C T TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chrX:11157235C>T ENST00000337414.4 - 13 3545 c.2673G>A c.(2671-2673)gcG>gcA p.A891A ARHGAP6_ENST00000303025.6_Silent_p.A688A|ARHGAP6_ENST00000380736.1_Silent_p.A688A|ARHGAP6_ENST00000534860.1_Intron NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 891 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 CTGCCGCTGCCGCGGGCTTCC 0.701000 6 11 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547099 132547099 + Silent SNP G G A rs145603866 byFrequency TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr12:132547099G>A ENST00000333577.4 + 48 8404 c.8295G>A c.(8293-8295)caG>caA p.Q2765Q EP400_ENST00000332482.4_Silent_p.Q2692Q|EP400_ENST00000330386.6_Silent_p.Q2648Q|EP400_ENST00000389561.2_Silent_p.Q2729Q|EP400_ENST00000389562.2_Silent_p.Q2728Q Q96L91 EP400_HUMAN E1A binding protein p400 2765 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) aacaacagcagcagcagcagc 0.577000 4 49 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45127296 45127296 + Missense_Mutation SNP C C G TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr3:45127296C>G ENST00000296129.1 - 9 2479 c.2345G>C c.(2344-2346)aGg>aCg p.R782T NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 782 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) AGTTGGGGCCCTGGAGCATAT 0.622000 21 22 0 0 1 0 0 OTX1 5013 broad.mit.edu 37 2 63283331 63283331 + Missense_Mutation SNP C C G TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr2:63283331C>G ENST00000366671.3 + 5 1221 c.945C>G c.(943-945)gaC>gaG p.D315E OTX1_ENST00000282549.2_Missense_Mutation_p.D315E NM_001199770.1 NP_001186699.1 P32242 OTX1_HUMAN orthodenticle homeobox 1 315 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.D315E(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Lung NSC(7;0.121)|all_lung(7;0.211) ACTCTGCCGACTGCTTGGATT 0.602000 20 24 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83352828 83352828 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chrX:83352828G>A ENST00000262752.2 - 19 1812 c.1805C>T c.(1804-1806)gCt>gTt p.A602V RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A602V|RPS6KA6_ENST00000495332.1_5'UTR NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 602 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 GATATCACAAGCAGCATCATA 0.318000 6 172 0 0 1 0 0 ZNF799 90576 broad.mit.edu 37 19 12501697 12501697 + Missense_Mutation SNP C C A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr19:12501697C>A ENST00000419318.1 - 4 2168 c.1419G>T c.(1417-1419)gaG>gaT p.E473D CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E505D Q96GE5 ZN799_HUMAN zinc finger protein 799 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 ATGTGTTACACTCATAAGGTT 0.393000 4 121 0.150653 0.152689 1 1 0 PTK6 5753 broad.mit.edu 37 20 62164937 62164937 + Missense_Mutation SNP G G A TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr20:62164937G>A ENST00000217185.2 - 4 664 c.637C>T c.(637-639)Cgg>Tgg p.R213W PTK6_ENST00000542869.1_Missense_Mutation_p.R112W NM_005975.3 NP_005966.1 Q13882 PTK6_HUMAN protein tyrosine kinase 6 213 Protein kinase. cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 15 all_cancers(38;2.51e-11) Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06) ACCTGGACCCGGTCTTTCCAG 0.657000 14 68 0 0 1 0 0 SYN2 6854 broad.mit.edu 37 3 12046124 12046126 + RNA DEL AGC AGC - rs76272937 TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr3:12046124_12046126delAGC ENST00000432424.2 + 0 245_247 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 AGCCCCAGCAAGCGCCGAcgccg 0.764 3 3 --- --- --- --- CTNND2 1501 broad.mit.edu 37 5 11411675 11411675 + Frame_Shift_Del DEL C C - TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr5:11411675delC ENST00000304623.8 - 5 601 c.412delG c.(412-414)acfs p.D138fs CTNND2_ENST00000511377.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000359640.2_Frame_Shift_Del_p.D138fs|CTNND2_ENST00000458100.2_5'UTR NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 138 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TCCTGTGGGTCAAGTATTCCT 0.373 50 53 --- --- --- --- RECK 8434 broad.mit.edu 37 9 36091312 36091315 + Frame_Shift_Del DEL CTTA CTTA - TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr9:36091312_36091315delCTTA ENST00000377966.3 + 10 1623_1626 c.1057_1060delCTTA c.(1057-1062)ctfs p.LT353fs NM_021111.2 NP_066934.1 O95980 RECK_HUMAN reversion-inducing-cysteine-rich protein with kazal motifs 353 anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228) CTGTAGAAACCTTACTTACTGTAC 0.343 54 76 --- --- --- --- SLC24A1 9187 broad.mit.edu 37 15 65918177 65918179 + In_Frame_Del DEL CTG CTG - TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chr15:65918177_65918179delCTG ENST00000261892.6 + 2 2046_2048 c.1759_1761delCTG c.(1759-1761)del p.L591del SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 591 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GTGGGAGAGCCTGCTGCTGCTGC 0.547 7 82 --- --- --- --- NUDT11 0 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC TCCTCGAGGCAGCC - rs78182391 TCGA-S9-A7J0-01A-11D-A34A-08 TCGA-S9-A7J0-10A-01D-A34A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 365e806d-2141-4e36-a635-a005fbf111e6 ebff37d8-cff8-4ebe-9571-73351b080dc5 g.chrX:51239296_51239309delTCCTCGAGGCAGCC ENST00000375992.3 - 0 139_152 NM_018159.3 NP_060629.2 Q96G61 NUD11_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.?(5) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2) 9 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.692 HNSCC(48;0.14) 8 8 --- --- --- ---