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 NR5A2 2494 broad.mit.edu 37 1 200017398 200017398 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:200017398G>T ENST00000367362.3 + 5 808 c.562G>T c.(562-564)Gcc>Tcc p.A188S NR5A2_ENST00000236914.3_Missense_Mutation_p.A142S|NR5A2_ENST00000544748.1_Missense_Mutation_p.A116S NM_001276464.1|NM_205860.1 NP_001263393.1|NP_995582.1 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 188 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Prostate(682;0.19) CCTCATCCGAGCCAATGGACT 0.502000 37 141 1.57351e-24 2.07903e-24 1 1 0 FLG 2312 broad.mit.edu 37 1 152280015 152280015 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:152280015G>A ENST00000368799.1 - 3 7382 c.7347C>T c.(7345-7347)agC>agT p.S2449S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2449 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGTGCCTGGAGCTGTCTCGTG 0.592000 Ichthyosis 166 276 0 0 1 0 0 RUNX3 864 broad.mit.edu 37 1 25256172 25256172 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:25256172G>T ENST00000399916.1 - 2 668 c.230C>A c.(229-231)gCa>gAa p.A77E RUNX3_ENST00000338888.3_Missense_Mutation_p.A77E|RUNX3_ENST00000308873.6_Missense_Mutation_p.A63E NM_001031680.2 NP_001026850.1 Q13761 RUNX3_HUMAN runt-related transcription factor 3 63 Runt. cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136) GAGCTCGCCTGCGTGGTCCGC 0.731000 4 16 0.000602214 0.00061809 1 1 0 CA11 770 broad.mit.edu 37 19 49142821 49142821 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:49142821G>C ENST00000084798.4 - 6 1304 c.625C>G c.(625-627)Cgc>Ggc p.R209G SEC1P_ENST00000430145.2_RNA NM_001217.3 NP_001208.2 O75493 CAH11_HUMAN carbonic anhydrase XI 209 extracellular region breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8) 14 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) TAGGAGATGCGAGTGATGGTG 0.577000 9 33 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516083 140516083 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:140516083C>A ENST00000231134.5 + 1 1284 c.1067C>A c.(1066-1068)cCa>cAa p.P356Q NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 356 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCCCTACCCCAGAAAATGCC 0.527000 52 53 1.91693e-13 2.27076e-13 1 1 0 APOLD1 81575 broad.mit.edu 37 12 12940571 12940571 + Silent SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:12940571A>T ENST00000356591.4 + 2 817 c.732A>T c.(730-732)gcA>gcT p.A244A RP11-59H1.3_ENST00000534843.1_Intron|APOLD1_ENST00000326765.6_Silent_p.A275A NM_030817.2 NP_110444.3 Q96LR9 APLD1_HUMAN apolipoprotein L domain containing 1 275 angiogenesis|cell differentiation|lipid transport|lipoprotein metabolic process extracellular region|integral to membrane|plasma membrane lipid binding breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 5 Prostate(47;0.0632) BRCA - Breast invasive adenocarcinoma(232;0.0338)|GBM - Glioblastoma multiforme(207;0.149) ACCAGCGTGCAGGGCTGTTTT 0.552000 39 43 0 0 1 0 0 PRSS58 136541 broad.mit.edu 37 7 141952426 141952426 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:141952426C>T ENST00000552471.1 - 4 761 c.442G>A c.(442-444)Gag>Aag p.E148K PRSS58_ENST00000547058.2_Missense_Mutation_p.E148K Q8IYP2 PRS58_HUMAN protease, serine, 58 148 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2) 19 GAATCGGGCTCTTTGTCTAAA 0.353000 36 114 0 0 1 0 0 SNORD113-4 767564 broad.mit.edu 37 14 101402883 101402883 + RNA SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr14:101402883T>C ENST00000364802.1 + 0 56 NR_003232.1 ATTAAACCCATATGCAATTCT 0.378000 83 49 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50555480 50555480 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:50555480G>T ENST00000267845.3 - 2 558 c.156C>A c.(154-156)gaC>gaA p.D52E HDC_ENST00000543581.1_Missense_Mutation_p.D52E NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 52 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) TGTCCCAGCTGTCGGGGTCCT 0.597000 29 106 2.46105e-21 3.17977e-21 1 1 0 SHBG 6462 broad.mit.edu 37 17 7534132 7534132 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:7534132G>T ENST00000380450.4 + 3 369 c.338G>T c.(337-339)tGg>tTg p.W113L SHBG_ENST00000576728.1_Missense_Mutation_p.W55L|SHBG_ENST00000574539.1_Missense_Mutation_p.W55L|SHBG_ENST00000572182.1_Missense_Mutation_p.W55L|SHBG_ENST00000576478.1_Missense_Mutation_p.W55L|SHBG_ENST00000575314.1_Missense_Mutation_p.W55L|SHBG_ENST00000570547.1_Missense_Mutation_p.W55L|SHBG_ENST00000416273.3_Missense_Mutation_p.W113L|SHBG_ENST00000575903.1_Missense_Mutation_p.W113L|SHBG_ENST00000572262.1_Missense_Mutation_p.W55L|SHBG_ENST00000441599.2_Missense_Mutation_p.W113L|SHBG_ENST00000340624.5_Missense_Mutation_p.W55L NM_001040.3 NP_001031.2 P04278 SHBG_HUMAN sex hormone-binding globulin 113 Laminin G-like 1. hormone transport extracellular region androgen binding|protein homodimerization activity p.?(1) cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1) 10 all_cancers(10;0.0867) READ - Rectum adenocarcinoma(115;0.168) Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624) CACAATCACTGGGCCCAGCTT 0.567000 53 21 8.44121e-28 1.14113e-27 1 1 0 PDS5A 23244 broad.mit.edu 37 4 39924301 39924301 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:39924301C>T ENST00000303538.8 - 6 1134 c.595G>A c.(595-597)Gat>Aat p.D199N PDS5A_ENST00000503396.1_Missense_Mutation_p.D199N NM_001100399.1 NP_001093869.1 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) 199 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1) 39 GTAACTCCATCACCTTCCATG 0.318000 5 21 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198740 170198740 + Missense_Mutation SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:170198740A>G ENST00000231706.4 - 7 1646 c.1331T>C c.(1330-1332)tTg>tCg p.L444S CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 444 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CTCCTCAGACAAGAACTTGAC 0.517000 7 62 0 0 1 0 0 ZNF497 162968 broad.mit.edu 37 19 58868868 58868868 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:58868868G>T ENST00000311044.3 - 3 322 c.134C>A c.(133-135)aCg>aAg p.T45K ZNF497_ENST00000425453.3_Missense_Mutation_p.T45K|CTD-2619J13.8_ENST00000599109.1_RNA NM_198458.2 NP_940860.2 Q6ZNH5 ZN497_HUMAN zinc finger protein 497 45 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|lung(3)|skin(2) 7 all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278) CGGAACCTCCGTGGAGTTTTC 0.706000 9 24 3.86212e-05 4.04933e-05 1 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3686664 3686664 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr20:3686664C>T ENST00000344754.4 - 3 432 c.433G>A c.(433-435)Gcc>Acc p.A145T SIGLEC1_ENST00000202578.4_Missense_Mutation_p.A145T NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 145 Ig-like C2-type 1. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 ACCGGGGAGGCAATGGTGGGC 0.627000 14 42 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105821188 105821188 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:105821188C>G ENST00000353479.5 - 13 1244 c.954G>C c.(952-954)gtG>gtC p.V318V COL17A1_ENST00000369733.3_Silent_p.V318V|COL17A1_ENST00000393211.3_Silent_p.V318V NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 318 Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CGCCAGTGTTCACAGCCGCAG 0.577000 14 14 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150648077 150648077 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:150648077G>A ENST00000392968.2 - 6 2909 c.1789C>T c.(1789-1791)Ctg>Ttg p.L597L KCNH2_ENST00000262186.5_Silent_p.L693L|KCNH2_ENST00000430723.3_Silent_p.L693L|KCNH2_ENST00000330883.4_Silent_p.L353L Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 693 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CGCTGGCGCAGGGGATTGGGG 0.652000 27 37 0 0 1 0 0 FGA 2243 broad.mit.edu 37 4 155507723 155507723 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:155507723G>T ENST00000302053.3 - 5 936 c.858C>A c.(856-858)ccC>ccA p.P286P FGA_ENST00000403106.3_Silent_p.P286P NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 286 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TAGGGTTCCTGGGGCTTTCCG 0.552000 19 105 2.94398e-08 3.23174e-08 1 1 0 NRIP1 8204 broad.mit.edu 37 21 16339781 16339781 + Missense_Mutation SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr21:16339781T>C ENST00000400202.1 - 3 1445 c.733A>G c.(733-735)Agc>Ggc p.S245G NRIP1_ENST00000400199.1_Missense_Mutation_p.S245G|NRIP1_ENST00000318948.4_Missense_Mutation_p.S245G P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 245 Repression domain 1. androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) TCCACCATGCTTGCAACAGCC 0.473000 75 195 0 0 1 0 0 CCNE2 9134 broad.mit.edu 37 8 95897703 95897703 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:95897703G>C ENST00000520509.1 - 8 936 c.684C>G c.(682-684)ctC>ctG p.L228L CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Silent_p.L228L|CCNE2_ENST00000308108.4_Silent_p.L228L O96020 CCNE2_HUMAN cyclin E2 228 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) TTAATATAATGAGTTCCATCC 0.299000 38 112 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10360894 10360894 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:10360894G>A ENST00000255381.2 - 16 1850 c.1740C>T c.(1738-1740)ttC>ttT p.F580F CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 580 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCACCAGTGAGAAGTGAGCCT 0.532000 108 61 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78774046 78774046 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:78774046G>C ENST00000545128.1 + 12 2116 c.1578G>C c.(1576-1578)ctG>ctC p.L526L PCSK5_ENST00000376767.3_Silent_p.L526L|PCSK5_ENST00000376752.4_Silent_p.L526L NM_001190482.1 NP_001177411.1 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 526 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CCATCTACCTGACCTCGCCCT 0.577000 23 43 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283199 152283199 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:152283199C>A ENST00000368799.1 - 3 4198 c.4163G>T c.(4162-4164)cGa>cTa p.R1388L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1388 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTGGACCCTCGGTGTCCACT 0.562000 Ichthyosis 43 487 1.00953e-15 1.2334e-15 1 1 0 SPOP 8405 broad.mit.edu 37 17 47700159 47700159 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:47700159G>A ENST00000393331.3 - 4 484 c.14C>T c.(13-15)cCa>cTa p.P5L SPOP_ENST00000347630.2_Missense_Mutation_p.P5L|SPOP_ENST00000503676.1_Missense_Mutation_p.P5L|SPOP_ENST00000393328.2_Missense_Mutation_p.P5L|SPOP_ENST00000513080.1_5'UTR|SPOP_ENST00000504102.1_Missense_Mutation_p.P5L NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 5 mRNA processing nucleus protein binding endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TGGAGGACTTGGAACCCTTGA 0.493000 Prostate(2;0.17) 4 104 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25472073 25472073 + RNA SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:25472073C>G ENST00000453082.2 + 0 1115 NR_003343.1 AGATGGTGACCCCGGAGGAAA 0.617000 5 13 0 0 1 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013014 142013014 + RNA SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:142013014C>A ENST00000390357.3 + 0 8 GTCAGAGGCCCCATCTCAGAC 0.577000 29 33 1.99505e-19 2.53285e-19 1 1 0 AASDH 132949 broad.mit.edu 37 4 57204793 57204793 + Silent SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:57204793C>A ENST00000205214.6 - 15 3252 c.3072G>T c.(3070-3072)ccG>ccT p.P1024P AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Silent_p.P924P|AASDH_ENST00000602986.1_3'UTR|AASDH_ENST00000434343.2_Silent_p.P539P NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 1024 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) GGAAAGCAAACGGTGTTGCAT 0.408000 26 67 1.77063e-15 2.14979e-15 1 1 0 SURF6 6838 broad.mit.edu 37 9 136199074 136199074 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:136199074C>T ENST00000372022.4 - 5 982 c.717G>A c.(715-717)ctG>ctA p.L239L SURF6_ENST00000468290.1_5'UTR NM_006753.4 NP_006744.2 O75683 SURF6_HUMAN surfeit 6 239 granular component DNA binding|RNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 12 OV - Ovarian serous cystadenocarcinoma(145;1.16e-06)|Epithelial(140;8.34e-06)|all cancers(34;7.08e-05) GGCGCTCCAGCAGCTGCCGGT 0.672000 28 67 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51617248 51617248 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:51617248G>T ENST00000522124.1 + 16 1788 c.1127G>T c.(1126-1128)aGt>aTt p.S376I SNTG1_ENST00000518864.1_Missense_Mutation_p.S376I|SNTG1_ENST00000517473.1_Missense_Mutation_p.S376I|SNTG1_ENST00000276467.5_Missense_Mutation_p.S376I NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 376 PH. cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) GAGCTGGAAAGTGACCTCGCC 0.557000 20 48 5.03518e-11 5.78848e-11 1 1 0 PRPF40A 55660 broad.mit.edu 37 2 153519208 153519208 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:153519208C>A ENST00000410080.1 - 21 2772 c.2231G>T c.(2230-2232)cGt>cTt p.R744L NM_017892.3 NP_060362.3 O75400 PR40A_HUMAN PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) 771 FF 5. mRNA processing|RNA splicing nuclear matrix|nuclear speck protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1) 21 AAATCTCTCACGGATCTGAAA 0.294000 8 28 7.48243e-07 8.06225e-07 1 1 0 F2RL3 9002 broad.mit.edu 37 19 17001291 17001291 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:17001291C>G ENST00000248076.3 + 2 1347 c.1017C>G c.(1015-1017)atC>atG p.I339M NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 339 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 ATCCCTTCATCTACTACTACG 0.657000 9 24 0 0 1 0 0 LONRF2 164832 broad.mit.edu 37 2 100916302 100916302 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:100916302C>T ENST00000393437.3 - 5 1783 c.1144G>A c.(1144-1146)Gag>Aag p.E382K LONRF2_ENST00000409647.1_Missense_Mutation_p.E139K NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 382 proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 TTTTTATCCTCTTCAAAGTGT 0.428000 34 110 0 0 1 0 0 DPP6 1804 broad.mit.edu 37 7 154593115 154593115 + Missense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:154593115A>T ENST00000404039.1 + 13 1745 c.1158A>T c.(1156-1158)agA>agT p.R386S DPP6_ENST00000427557.1_Missense_Mutation_p.R343S|DPP6_ENST00000332007.3_Missense_Mutation_p.R388S|DPP6_ENST00000377770.3_Missense_Mutation_p.R450S NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 450 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TCTTCATCAGAGCCATCCCCC 0.483000 4 12 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73960499 73960499 + Missense_Mutation SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:73960499A>G ENST00000373468.1 - 3 4544 c.3893T>C c.(3892-3894)aTg>aCg p.M1298T KIAA2022_ENST00000055682.5_Missense_Mutation_p.M1298T Q5QGS0 K2022_HUMAN KIAA2022 1298 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GTTGGTGCCCATGCTCATATC 0.527000 30 18 0 0 1 0 0 AMER3 205147 broad.mit.edu 37 2 131521072 131521072 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:131521072C>G ENST00000423981.1 + 2 1537 c.1427C>G c.(1426-1428)cCt>cGt p.P476R AMER3_ENST00000321420.4_Missense_Mutation_p.P476R NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2 NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2 APC membrane recruitment protein 3 GCACCAGGCCCTGACCTGCTC 0.637000 15 29 0 0 1 0 0 SLC16A13 201232 broad.mit.edu 37 17 6942176 6942176 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:6942176G>T ENST00000308027.6 + 3 1357 c.1049G>T c.(1048-1050)aGc>aTc p.S350I NM_201566.2 NP_963860.1 Q7RTY0 MOT13_HUMAN solute carrier family 16, member 13 350 integral to membrane|plasma membrane symporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 ATGATAGAGAGCATCGGGGGG 0.577000 94 79 1.09905e-38 1.51378e-38 1 1 0 ZNF676 163223 broad.mit.edu 37 19 22362826 22362826 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:22362826C>A ENST00000397121.2 - 3 2010 c.1693G>T c.(1693-1695)Gaa>Taa p.E565* NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGCCACATTCTTCACATTTG 0.378000 32 60 8.88839e-20 1.1309e-19 1 1 0 FAM196A 642938 broad.mit.edu 37 10 128973751 128973751 + Silent SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:128973751A>T ENST00000522781.1 - 4 1464 c.909T>A c.(907-909)acT>acA p.T303T FAM196A_ENST00000424811.2_Silent_p.T303T|DOCK1_ENST00000280333.6_Intron NM_001039762.2 NP_001034851.1 Q6ZSG2 F196A_HUMAN family with sequence similarity 196, member A 303 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 AGGCCAGGGCAGTTTCCGAGG 0.667000 25 46 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220089061 220089061 + Silent SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:220089061T>C ENST00000366926.3 - 4 1349 c.1188A>G c.(1186-1188)ttA>ttG p.L396L SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Silent_p.L151L NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 396 Poly-Leu. zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) AGAGCAACAGTAAGTCCTTCT 0.532000 57 57 0 0 1 0 0 HSCB 150274 broad.mit.edu 37 22 29153084 29153084 + Missense_Mutation SNP A A C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr22:29153084A>C ENST00000216027.3 + 6 700 c.635A>C c.(634-636)aAg>aCg p.K212T HSCB_ENST00000495977.1_3'UTR|HSCB_ENST00000398941.2_3'UTR NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone 212 iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1)|lung(2)|skin(1) 4 GAAGAAGCCAAGGAAATTTTG 0.323000 82 167 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325343 9325343 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:9325343G>A ENST00000308682.2 - 1 199 c.171C>T c.(169-171)acC>acT p.T57T NM_001005191.2 NP_001005191.1 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, member 4 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 AGTACATGGGGGTGTGGAGGT 0.557000 30 81 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100189 168100189 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:168100189G>C ENST00000409195.1 + 9 2376 c.2287G>C c.(2287-2289)Gaa>Caa p.E763Q XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E541Q|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E763Q|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 588 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGAAGACGTTGAAAAGGGAGA 0.363000 5 77 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177052728 177052728 + Missense_Mutation SNP A A C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:177052728A>C ENST00000393643.2 + 7 1189 c.937A>C c.(937-939)Aat>Cat p.N313H WDR17_ENST00000507824.2_Missense_Mutation_p.N320H|WDR17_ENST00000280190.4_Missense_Mutation_p.N337H|WDR17_ENST00000508596.1_Missense_Mutation_p.N313H NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 337 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TCCAACCAAAAATCATTATAC 0.343000 32 94 0 0 1 0 0 WDR49 151790 broad.mit.edu 37 3 167272550 167272550 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:167272550T>A ENST00000308378.3 - 6 993 c.688A>T c.(688-690)Aat>Tat p.N230Y WDR49_ENST00000476376.1_Missense_Mutation_p.N55Y|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Missense_Mutation_p.N283Y NM_178824.3 NP_849146.1 Q8IV35 WDR49_HUMAN WD repeat domain 49 230 breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 TGCCCAACATTTAGTGTATGG 0.368000 35 112 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561319 44561319 + Missense_Mutation SNP T T C rs146911955 byFrequency TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:44561319T>C ENST00000332567.4 - 1 669 c.317A>G c.(316-318)cAg>cGg p.Q106R KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 106 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.Q106R(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGCCTTTTCCTGGTCCTGAAG 0.652000 71 58 0 0 1 0 0 MORN3 283385 broad.mit.edu 37 12 122107361 122107361 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:122107361G>A ENST00000355329.3 - 1 199 c.29C>T c.(28-30)tCg>tTg p.S10L NM_173855.4 NP_776254.3 Q6PF18 MORN3_HUMAN MORN repeat containing 3 10 breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145) CAGGGACTCCGACTTTTTTGG 0.617000 11 132 0 0 1 0 0 PTGIR 5739 broad.mit.edu 37 19 47127217 47127217 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:47127217G>A ENST00000291294.2 - 2 399 c.266C>T c.(265-267)cCc>cTc p.P89L PTGIR_ENST00000594275.1_Intron|PTGIR_ENST00000596260.1_Missense_Mutation_p.P89L|PTGIR_ENST00000598865.1_Intron|PTGIR_ENST00000597185.1_Intron NM_000960.3 NP_000951.1 P43119 PI2R_HUMAN prostaglandin I2 (prostacyclin) receptor (IP) 89 cell-cell signaling|G-protein signaling, coupled to cyclic nucleotide second messenger|platelet activation integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 13 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000327)|all cancers(93;0.000641)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0331) Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Epoprostenol(DB01240)|Iloprost(DB01088)|Misoprostol(DB00929) GCACAGGGCGGGGCCGCCTCG 0.701000 5 9 0 0 1 0 0 PRPF38B 55119 broad.mit.edu 37 1 109241261 109241261 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:109241261G>T ENST00000370021.1 + 6 898 c.261G>T c.(259-261)atG>atT p.M87I PRPF38B_ENST00000370025.4_Missense_Mutation_p.M198I Q5VTL8 PR38B_HUMAN pre-mRNA processing factor 38B 198 mRNA processing|RNA splicing spliceosomal complex NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) GCTGTGTAATGACCATTGGAG 0.373000 19 46 5.26018e-13 6.20595e-13 1 1 0 LINGO2 158038 broad.mit.edu 37 9 27949813 27949813 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:27949813C>A ENST00000379992.2 - 6 1306 c.857G>T c.(856-858)aGc>aTc p.S286I LINGO2_ENST00000308675.3_Missense_Mutation_p.S286I NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 286 integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) TTCAATAGTGCTGATGGGATT 0.507000 38 39 9.45814e-24 1.24125e-23 1 1 0 OTOGL 283310 broad.mit.edu 37 12 80704456 80704456 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:80704456G>C ENST00000458043.2 + 29 3378 c.3372G>C c.(3370-3372)aaG>aaC p.K1124N OTOGL_ENST00000547103.1_Missense_Mutation_p.K1124N NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CTTATGCCAAGAAAGAATGCT 0.333000 5 51 0 0 1 0 0 OR1K1 392392 broad.mit.edu 37 9 125563199 125563199 + Silent SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:125563199A>T ENST00000277309.2 + 1 830 c.798A>T c.(796-798)cgA>cgT p.R266R NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 CCACATCCCGACGCGAGGCAG 0.602000 45 124 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50142980 50142980 + Splice_Site SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:50142980A>G ENST00000347869.3 + 10 869 c.e10-1 NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATTTACCCCTAGCGATCATTC 0.443000 58 76 0 0 1 0 0 NR4A2 4929 broad.mit.edu 37 2 157182791 157182791 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:157182791G>A ENST00000339562.4 - 7 1773 c.1411C>T c.(1411-1413)Cac>Tac p.H471Y NR4A2_ENST00000426264.1_Missense_Mutation_p.H408Y|NR4A2_ENST00000539077.1_Missense_Mutation_p.H482Y|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409108.2_Intron|NR4A2_ENST00000409572.1_Missense_Mutation_p.H471Y NM_006186.3 NP_006177.1 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 471 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 TGCAACCTGTGCAAGACCACC 0.453000 21 47 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63164373 63164373 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:63164373G>A ENST00000449996.3 + 8 628 c.556G>A c.(556-558)Gca>Aca p.A186T RGS9_ENST00000262406.9_Missense_Mutation_p.A186T|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Missense_Mutation_p.A186T NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 186 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CCAGGAGAAGGCATACTGGCT 0.562000 3 26 0 0 1 0 0 MYOM1 8736 broad.mit.edu 37 18 3155075 3155075 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:3155075C>G ENST00000400569.3 - 11 1846 c.1513G>C c.(1513-1515)Gag>Cag p.E505Q MYOM1_ENST00000261606.7_Missense_Mutation_p.E505Q|MYOM1_ENST00000356443.4_Missense_Mutation_p.E505Q P52179 MYOM1_HUMAN myomesin 1 505 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 CCTTCAATCTCTGCATCAGCA 0.527000 26 17 0 0 1 0 0 HAS3 3038 broad.mit.edu 37 16 69148737 69148737 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:69148737C>T ENST00000306560.1 + 4 1386 c.1230C>T c.(1228-1230)ctC>ctT p.L410L HAS3_ENST00000219322.3_Intron|HAS3_ENST00000569188.1_Silent_p.L410L NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 410 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) GGAACATTCTCCTCTTCCTGC 0.547000 49 130 0 0 1 0 0 FAM83G 644815 broad.mit.edu 37 17 18907342 18907342 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:18907342G>C ENST00000388995.6 - 2 236 c.13C>G c.(13-15)Cag>Gag p.Q5E SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.Q5E|FAM83G_ENST00000345041.4_Missense_Mutation_p.Q5E|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000417251.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 5 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CACTGCACCTGAGAGAAGGCC 0.692000 4 57 0 0 1 0 0 ATIC 471 broad.mit.edu 37 2 216214289 216214289 + Missense_Mutation SNP G G T rs149999349 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:216214289G>T ENST00000435675.1 + 15 2078 c.1687G>T c.(1687-1689)Ggt>Tgt p.G563C ATIC_ENST00000236959.9_Missense_Mutation_p.G564C|ATIC_ENST00000540518.1_Missense_Mutation_p.G505C P31939 PUR9_HUMAN 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase 564 IMP biosynthetic process|purine base metabolic process cytosol IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity p.G564S(1) ATIC/ALK(24) large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 8 Renal(323;0.229) Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097) Tetrahydrofolic acid(DB00116) GGCTCCCTCCGGTTCTGCTGC 0.483000 T ALK ALCL 28 68 7.65355e-07 8.23145e-07 1 1 0 MAP2 4133 broad.mit.edu 37 2 210558199 210558199 + Silent SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:210558199T>A ENST00000360351.4 + 7 1811 c.1305T>A c.(1303-1305)ctT>ctA p.L435L MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Silent_p.L431L|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 435 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AACCTATACTTACTGAAAAGG 0.428000 4 83 0 0 1 0 0 C15orf27 123591 broad.mit.edu 37 15 76496319 76496319 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:76496319C>G ENST00000388942.3 + 11 1535 c.1259C>G c.(1258-1260)tCt>tGt p.S420C NM_152335.2 NP_689548.2 Q2M3C6 CO027_HUMAN chromosome 15 open reading frame 27 420 integral to membrane endometrium(1)|large_intestine(1)|lung(10)|pancreas(1) 13 GAGCCGTCCTCTGAGCCCGGC 0.701000 9 24 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73929084 73929084 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:73929084C>G ENST00000586717.1 - 4 390 c.117G>C c.(115-117)gcG>gcC p.A39A FBF1_ENST00000389570.4_Silent_p.A39A|FBF1_ENST00000319129.5_Silent_p.A39A A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 39 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 ACTTTGTTCTCGCCTTTGAAG 0.473000 21 21 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100210184 100210184 + Missense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:100210184A>T ENST00000317233.4 - 14 2174 c.1939T>A c.(1939-1941)Tgc>Agc p.C647S AFF3_ENST00000409579.1_Missense_Mutation_p.C672S|AFF3_ENST00000356421.2_Missense_Mutation_p.C672S|AFF3_ENST00000409236.1_Missense_Mutation_p.C647S NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 647 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 CGCTTCTCGCAGGTCACGGAG 0.637000 32 46 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62018796 62018796 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:62018796C>T ENST00000578147.1 - 24 4922 c.4846G>A c.(4846-4848)Gac>Aac p.D1616N SCN4A_ENST00000435607.1_Missense_Mutation_p.D1616N P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1616 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) ATCTCAAAGTCATCTTCACCA 0.547000 29 140 0 0 1 0 0 IGF2BP3 10643 broad.mit.edu 37 7 23509711 23509711 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:23509711C>T ENST00000258729.3 - 1 375 c.19G>A c.(19-21)Gga>Aga p.G7R NM_006547.2 NP_006538.2 O00425 IF2B3_HUMAN insulin-like growth factor 2 mRNA binding protein 3 7 RRM 1. anatomical structure morphogenesis|negative regulation of translation|translation cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1) 34 CTGAGGTTTCCGATATACAGT 0.478000 48 102 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46124584 46124584 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:46124584C>G ENST00000536630.1 - 14 1582 c.1444G>C c.(1444-1446)Gag>Cag p.E482Q EML2_ENST00000587152.1_Missense_Mutation_p.E536Q|EML2_ENST00000245925.3_Missense_Mutation_p.E335Q|EML2_ENST00000589876.1_Missense_Mutation_p.E335Q NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 335 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CCAAAGTCCTCAGGGACCTGG 0.632000 5 87 0 0 1 0 0 ZNF555 148254 broad.mit.edu 37 19 2853584 2853584 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:2853584C>G ENST00000334241.4 + 4 1659 c.1521C>G c.(1519-1521)ctC>ctG p.L507L AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Silent_p.L506L NM_001172775.1|NM_152791.4 NP_001166246.1|NP_690004.4 Q8NEP9 ZN555_HUMAN zinc finger protein 555 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4) 23 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGAGAAACTCTATAAATGCA 0.408000 26 87 0 0 1 0 0 OR52E2 119678 broad.mit.edu 37 11 5079889 5079889 + Silent SNP C C G rs148031312 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:5079889C>G ENST00000321522.2 - 1 968 c.969G>C c.(967-969)acG>acC p.T323T NM_001005164.2 NP_001005164.2 Q8NGJ4 O52E2_HUMAN olfactory receptor, family 52, subfamily E, member 2 323 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(13)|ovary(2)|skin(3) 20 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191) TTCAGAACCTCGTATGTATTA 0.318000 21 30 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 70048882 70048882 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:70048882C>A ENST00000370598.1 + 25 4084 c.3263C>A c.(3262-3264)tCa>tAa p.S1088* BAI3_ENST00000546190.1_Nonsense_Mutation_p.S52*|BAI3_ENST00000238918.8_Nonsense_Mutation_p.S294* NM_001704.2 NP_001695.1 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1088 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ACAGCTTTGTCAGCCACCACC 0.418000 65 120 3.36121e-32 4.58632e-32 1 1 0 TP53 7157 broad.mit.edu 37 17 7579485 7579485 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:7579485C>A ENST00000420246.2 - 4 334 c.202G>T c.(202-204)Gag>Tag p.E68* TP53_ENST00000269305.4_Nonsense_Mutation_p.E68*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E68*|TP53_ENST00000413465.2_Nonsense_Mutation_p.E68*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E68*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E68* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 68 Interaction with HRMT1L2.|Interaction with WWOX. E -> G (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation). 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.E68*(10)|p.0?(8)|p.G59fs*23(3)|p.E68fs*55(2)|p.D48fs*55(1)|p.R65_P71delRMPEAAP(1)|p.E68fs*81(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.E68Q(1)|p.S33fs*23(1)|p.M66fs*80(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) GGAGCAGCCTCTGGCATTCTG 0.607000 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) 154 92 3.11347e-79 4.33953e-79 1 1 0 PHKA1 5255 broad.mit.edu 37 X 71802361 71802361 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:71802361C>A ENST00000373545.3 - 31 3697 c.3259G>T c.(3259-3261)Gaa>Taa p.E1087* PHKA1_ENST00000541944.1_Nonsense_Mutation_p.E1057*|PHKA1_ENST00000373539.3_Nonsense_Mutation_p.E1146*|PHKA1_ENST00000339490.3_Nonsense_Mutation_p.E1116*|PHKA1_ENST00000373542.4_Nonsense_Mutation_p.E1129* P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 1129 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) AGGATGGCTTCAACCAGCAGC 0.443000 6 28 0.0293803 0.029583 1 1 0 TSPAN5 10098 broad.mit.edu 37 4 99408023 99408023 + Missense_Mutation SNP T T G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:99408023T>G ENST00000305798.3 - 3 547 c.145A>C c.(145-147)Aac>Cac p.N49H TSPAN5_ENST00000505184.1_5'UTR|TSPAN5_ENST00000509168.1_5'UTR NM_005723.3 NP_005714.2 P62079 TSN5_HUMAN tetraspanin 5 49 integral to membrane kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;1.89e-07) GAAGAGATGTTGGACAGAACT 0.498000 24 80 0 0 1 0 0 TRBC2 28638 broad.mit.edu 37 7 142499042 142499042 + RNA SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:142499042G>A ENST00000466254.1 + 0 318 CTCGGAGAATGACGAGTGGAC 0.632000 29 186 0 0 1 0 0 AD000671.6 0 broad.mit.edu 37 19 36236089 36236089 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:36236089C>G ENST00000589807.1 - 2 109 c.69G>C c.(67-69)aaG>aaC p.K23N U2AF1L4_ENST00000378975.3_Missense_Mutation_p.K23N|PSENEN_ENST00000587708.2_5'UTR|U2AF1L4_ENST00000412391.2_Missense_Mutation_p.K23N|U2AF1L4_ENST00000588100.1_Splice_Site|U2AF1L4_ENST00000292879.5_Missense_Mutation_p.K23N AGACCCCGATCTTAAAGTAAA 0.617000 6 58 0 0 1 0 0 ZCCHC14 23174 broad.mit.edu 37 16 87446152 87446152 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:87446152G>C ENST00000268616.4 - 12 1981 c.1764C>G c.(1762-1764)gtC>gtG p.V588V NM_015144.2 NP_055959.1 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 588 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 BRCA - Breast invasive adenocarcinoma(80;0.0285) GACCAAAGGAGACTGTGGGTG 0.647000 4 62 0 0 1 0 0 PON1 5444 broad.mit.edu 37 7 94937343 94937343 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:94937343G>A ENST00000222381.3 - 6 909 c.678C>T c.(676-678)atC>atT p.I226I PON1_ENST00000542556.1_Silent_p.I226I NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 226 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GTGAAATGTTGATTCCATTAG 0.383000 32 121 0 0 1 0 0 MC1R 4157 broad.mit.edu 37 16 89986156 89986156 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:89986156G>A ENST00000555427.1 + 3 2793 c.490G>A c.(490-492)Gcc>Acc p.A164T MC1R_ENST00000555147.1_Missense_Mutation_p.A164T|TUBB3_ENST00000556922.1_Missense_Mutation_p.A164T melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 11 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) GGCGCGGCGAGCCGTTGCGGC 0.647000 Melanoma, Familial Clustering of 25 43 0 0 1 0 0 SGMS1-AS1 104355295 broad.mit.edu 37 10 52389885 52389885 + RNA SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:52389885T>C ENST00000443374.1 + 0 578 ATTCAGTATGTATGCTGGGTC 0.403000 8 24 0 0 1 0 0 FGL2 10875 broad.mit.edu 37 7 76828974 76828974 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:76828974C>T ENST00000248598.5 - 1 169 c.137G>A c.(136-138)aGa>aAa p.R46K CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron NM_006682.2 NP_006673.1 Q14314 FGL2_HUMAN fibrinogen-like 2 46 signal transduction fibrinogen complex receptor binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 13 GCATTTCCCTCTGCTTTCTAG 0.498000 12 151 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114294539 114294539 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:114294539G>A ENST00000357077.4 + 45 11846 c.11793G>A c.(11791-11793)gaG>gaA p.E3931E ANK2_ENST00000264366.6_Silent_p.E3898E|ANK2_ENST00000509550.1_Silent_p.E1022E|ANK2_ENST00000394537.3_Silent_p.E1846E|ANK2_ENST00000506722.1_Silent_p.E1837E|ANK2_ENST00000510275.2_Silent_p.E529E NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3898 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCAACATCGAGGAAGGGGATG 0.443000 31 79 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73830425 73830425 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:73830425C>T ENST00000264448.6 + 21 12464 c.12353C>T c.(12352-12354)tCc>tTc p.S4118F ALMS1_ENST00000409009.1_Missense_Mutation_p.S4076F|ALMS1_ENST00000464408.2_3'UTR NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4118 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ATTCAGAGGTCCAAACGGTAA 0.443000 30 83 0 0 1 0 0 LRP12 29967 broad.mit.edu 37 8 105507375 105507375 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:105507375G>A ENST00000276654.5 - 6 1751 c.1643C>T c.(1642-1644)tCg>tTg p.S548L LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.S529L NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 548 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) TTGTCCATACGAGGGAGGAGC 0.363000 40 88 0 0 1 0 0 LOC100130331 100130331 broad.mit.edu 37 1 238090211 238090211 + RNA SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:238090211C>A ENST00000450451.1 + 0 1717 NR_027247.2 ACGATGCCCCCCAAGCTGTGT 0.597000 10 8 2.17888e-05 2.29273e-05 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141806652 141806652 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:141806652G>T ENST00000389484.3 - 11 2663 c.1692C>A c.(1690-1692)caC>caA p.H564Q NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 564 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGGTTTCTGCGTGAAAGTCTA 0.433000 TSP Lung(27;0.18) 68 160 1.76847e-28 2.39626e-28 1 1 0 WDR96 80217 broad.mit.edu 37 10 105956620 105956620 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:105956620C>G ENST00000357060.3 - 10 1399 c.1284G>C c.(1282-1284)ctG>ctC p.L428L WDR96_ENST00000428666.1_Silent_p.L429L|WDR96_ENST00000278064.2_Silent_p.L359L|WDR96_ENST00000369720.1_Silent_p.L359L NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 428 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CTAGGGTATTCAGATAAATCT 0.303000 4 65 0 0 1 0 0 OR2M4 26245 broad.mit.edu 37 1 248402522 248402522 + Nonsense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:248402522G>T ENST00000306687.1 + 1 292 c.292G>T c.(292-294)Gga>Tga p.G98* NM_017504.1 NP_059974.1 Q96R27 OR2M4_HUMAN olfactory receptor, family 2, subfamily M, member 4 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2) 50 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGCAGGTTGTGGAACTCAGAT 0.463000 53 60 2.74695e-27 3.6794e-27 1 1 0 AGAP1 116987 broad.mit.edu 37 2 236957875 236957875 + Silent SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:236957875C>A ENST00000409538.1 + 15 3196 c.2700C>A c.(2698-2700)gtC>gtA p.V900V AGAP1_ENST00000304032.7_Silent_p.V688V|AGAP1_ENST00000428334.2_Silent_p.V527V|AGAP1_ENST00000336665.5_Silent_p.V635V Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 688 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CCAACAGCGTCTGGGAAGAGA 0.572000 30 68 5.77227e-19 7.28079e-19 1 1 0 ANKMY1 51281 broad.mit.edu 37 2 241465791 241465791 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:241465791C>A ENST00000391987.1 - 6 1124 c.758G>T c.(757-759)tGt>tTt p.C253F ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.C342F|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.C253F Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 253 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TTTGGGCCCACAGGGTGCAAA 0.532000 40 53 2.54651e-27 3.42664e-27 1 1 0 SHROOM4 57477 broad.mit.edu 37 X 50350944 50350944 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:50350944C>T ENST00000376020.2 - 6 3223 c.3198G>A c.(3196-3198)gcG>gcA p.A1066A SHROOM4_ENST00000289292.7_Silent_p.A1066A|SHROOM4_ENST00000460112.3_Silent_p.A950A NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1066 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding p.A1066A(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) TGCTTTGGGGCGCCAAGCTGA 0.587000 23 16 0 0 1 0 0 GPR83 10888 broad.mit.edu 37 11 94134087 94134087 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:94134087G>A ENST00000243673.2 - 1 498 c.327C>T c.(325-327)ttC>ttT p.F109F GPR83_ENST00000539203.2_Silent_p.F109F NM_016540.3 NP_057624.3 Q9NYM4 GPR83_HUMAN G protein-coupled receptor 83 109 integral to membrane|plasma membrane neuropeptide Y receptor activity NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGTTGACGATGAAGAGGCTGG 0.547000 6 20 0 0 1 0 0 OLIG3 167826 broad.mit.edu 37 6 137814789 137814789 + Silent SNP G G A rs138056559 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:137814789G>A ENST00000367734.2 - 1 742 c.519C>T c.(517-519)caC>caT p.H173H NM_175747.2 NP_786923.1 Q7RTU3 OLIG3_HUMAN oligodendrocyte transcription factor 3 173 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 11 Breast(32;0.165)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447) AGTTGGCCGCGTGCGCGGGGT 0.701000 7 24 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49440330 49440330 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:49440330G>C ENST00000374201.3 - 10 1298 c.996C>G c.(994-996)acC>acG p.T332T FRMPD2_ENST00000305531.3_Silent_p.T308T|FRMPD2_ENST00000407470.4_Silent_p.T301T NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 332 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) TCCCTTTTTTGGTCTGAAAAC 0.423000 11 27 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108298048 108298048 + Splice_Site SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:108298048C>T ENST00000370056.4 - 12 1448 c.e12+1 VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TAATTACATACCAAATTCTCT 0.368000 10 15 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91084308 91084308 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr14:91084308C>G ENST00000357056.2 - 16 1954 c.1833G>C c.(1831-1833)caG>caC p.Q611H TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000328459.6_Missense_Mutation_p.Q611H Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 611 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) ATTTCCATATCTGCAGCATGT 0.547000 28 65 0 0 1 0 0 TUBGCP4 27229 broad.mit.edu 37 15 43678106 43678106 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:43678106G>C ENST00000564079.1 + 8 1081 c.841G>C c.(841-843)Gaa>Caa p.E281Q TUBGCP4_ENST00000399460.3_Missense_Mutation_p.E145Q|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.E281Q NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 281 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) ATTTGTTGGAGAATCTGTCCA 0.418000 7 68 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21399853 21399853 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:21399853G>C ENST00000313654.9 + 19 2437 c.2196G>C c.(2194-2196)gaG>gaC p.E732D LAMA3_ENST00000399516.3_Missense_Mutation_p.E732D NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 732 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGAAGTATGAGATTGAAGACG 0.413000 35 66 0 0 1 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769759 31769759 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:31769759C>G ENST00000240587.4 - 2 1267 c.940G>C c.(940-942)Gcc>Ccc p.A314P NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 314 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A314T(1)|p.A131T(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) ATGATTTTGGCGGCGACAGGA 0.537000 38 68 0 0 1 0 0 WDHD1 11169 broad.mit.edu 37 14 55454021 55454021 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr14:55454021G>T ENST00000360586.3 - 14 1676 c.1611C>A c.(1609-1611)gcC>gcA p.A537A WDHD1_ENST00000420358.2_Silent_p.A414A|WDHD1_ENST00000421192.1_Silent_p.A414A|WDHD1_ENST00000359167.4_Silent_p.A55A NM_007086.3 NP_009017.1 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 537 cytoplasm|nucleoplasm DNA binding breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2) 42 CGAGACATATGGCTTCAATAT 0.438000 29 81 3.67414e-24 4.83265e-24 1 1 0 LAMA4 3910 broad.mit.edu 37 6 112476784 112476784 + Missense_Mutation SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:112476784T>C ENST00000230538.7 - 15 2339 c.1942A>G c.(1942-1944)Act>Gct p.T648A LAMA4_ENST00000522006.1_Missense_Mutation_p.T641A|RP1-142L7.5_ENST00000425503.1_RNA|LAMA4_ENST00000389463.4_Missense_Mutation_p.T641A|LAMA4_ENST00000424408.2_Missense_Mutation_p.T641A|RP1-142L7.5_ENST00000588689.1_RNA|RP1-142L7.5_ENST00000585373.1_RNA NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 648 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) ATTCGGTCAGTGGTGTTCAAA 0.388000 48 66 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150947364 150947364 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:150947364G>A ENST00000261800.5 - 1 1141 c.1129C>T c.(1129-1131)Cct>Tct p.P377S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 377 Cadherin 3. 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) CGGCTGCCAGGAGGGGAAAAC 0.488000 29 36 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115389479 115389479 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:115389479G>A ENST00000369358.4 - 19 2176 c.1932C>T c.(1930-1932)aaC>aaT p.N644N NRAP_ENST00000360478.3_Silent_p.N601N|NRAP_ENST00000359988.3_Silent_p.N636N|NRAP_ENST00000369360.3_Silent_p.N609N Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 636 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CATGCCTGATGTTTACCATAT 0.443000 50 59 0 0 1 0 0 EXD3 54932 broad.mit.edu 37 9 140267956 140267956 + Translation_Start_Site SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:140267956C>A ENST00000342129.4 - 0 411 EXD3_ENST00000475006.1_5'UTR|EXD3_ENST00000340951.4_Missense_Mutation_p.E72D|EXD3_ENST00000479452.1_Missense_Mutation_p.E72D Q8N9H8 MUT7_HUMAN exonuclease 3'-5' domain containing 3 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2) 12 GGGAGGGGCCCTCTCCCCGCT 0.701000 5 14 0.014758 0.014937 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51612708 51612708 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:51612708G>C ENST00000371117.3 - 58 9981 c.9706C>G c.(9706-9708)Cca>Gca p.P3236A PKHD1_ENST00000340994.4_Missense_Mutation_p.P3236A NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3236 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCTCCTCTTGGATTGGAGGGA 0.478000 36 44 0 0 1 0 0 SCD5 79966 broad.mit.edu 37 4 83552538 83552538 + Missense_Mutation SNP C C G rs150319742 byFrequency TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:83552538C>G ENST00000319540.4 - 5 1254 c.935G>C c.(934-936)cGg>cCg p.R312P NM_001037582.2 NP_001032671.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 312 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) CTTGGTTGCCCGTTTGCGGTC 0.547000 14 24 0 0 1 0 0 OR6N1 128372 broad.mit.edu 37 1 158736137 158736137 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:158736137G>C ENST00000335094.2 - 1 355 c.336C>G c.(334-336)tgC>tgG p.C112W NM_001005185.1 NP_001005185.1 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 all_hematologic(112;0.0378) TCAGGAGATAGCACTCAGTCG 0.498000 12 51 0 0 1 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106710753 106710753 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:106710753G>T ENST00000265717.4 + 2 594 c.335G>T c.(334-336)cGt>cTt p.R112L PRKAR2B_ENST00000393613.2_3'UTR NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta 112 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity p.R112H(1) breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 TTCACAAGGCGTGCCTCAGGT 0.303000 30 117 6.90743e-12 8.03573e-12 1 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43777747 43777747 + Silent SNP T T G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:43777747T>G ENST00000389420.3 - 30 4485 c.4486A>C c.(4486-4488)Agg>Cgg p.R1496R NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1496 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TATACATCCCTCTGCTGAACT 0.438000 30 26 0 0 1 0 0 BRS3 680 broad.mit.edu 37 X 135574491 135574491 + Missense_Mutation SNP C C T rs146164598 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:135574491C>T ENST00000370648.3 + 3 1385 c.1157C>T c.(1156-1158)tCg>tTg p.S386L NM_001727.1 NP_001718.1 P32247 BRS3_HUMAN bombesin-like receptor 3 386 adult feeding behavior|glucose metabolic process|regulation of blood pressure integral to membrane|plasma membrane bombesin receptor activity endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1) 23 Acute lymphoblastic leukemia(192;0.000127) AGTGTGACCTCGTTCACTGGG 0.527000 6 44 0 0 1 0 0 KLF4 9314 broad.mit.edu 37 9 110249793 110249793 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:110249793G>A ENST00000374672.4 - 3 1355 c.882C>T c.(880-882)ctC>ctT p.L294L NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 294 Pro-rich. fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 GGCCATTGCTGAGAGGGGGTC 0.692000 7 14 0 0 1 0 0 TCAIM 285343 broad.mit.edu 37 3 44448933 44448933 + Splice_Site SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:44448933G>A ENST00000342649.4 + 11 1677 c.e11-1 TCAIM_ENST00000417237.1_Splice_Site NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial CTATATAATAGGTTAAAGGTT 0.284000 21 22 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14542999 14542999 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:14542999G>A ENST00000358970.5 - 1 146 c.147C>T c.(145-147)caC>caT p.H49H POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 49 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 AGGAGTCGTCGTGGTCTCCAG 0.587000 68 319 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11446683 11446683 + Splice_Site SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:11446683C>A ENST00000423059.3 - 21 4168 c.e21-1 AC004538.3_ENST00000445839.1_RNA|AC004160.4_ENST00000425837.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ATCATTTTTCCTTGAAGAGAT 0.458000 HNSCC(18;0.044) 13 22 1.49906e-05 1.58309e-05 1 1 0 OR4C15 81309 broad.mit.edu 37 11 55322547 55322547 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:55322547C>G ENST00000314644.2 + 1 765 c.765C>G c.(763-765)aaC>aaG p.N255K NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 201 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TGGTCATCAACAGTGGGTTTA 0.473000 HNSCC(20;0.049) 23 41 0 0 1 0 0 USP53 54532 broad.mit.edu 37 4 120188600 120188600 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:120188600C>T ENST00000450251.1 + 9 1642 c.1098C>T c.(1096-1098)atC>atT p.I366I USP53_ENST00000274030.6_Silent_p.I366I Q70EK8 UBP53_HUMAN ubiquitin specific peptidase 53 366 ubiquitin-dependent protein catabolic process ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 27 GGCAGGTCATCAGCTGGTCAC 0.383000 19 82 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120608131 120608131 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:120608131T>A ENST00000259486.6 - 12 1133 c.1084A>T c.(1084-1086)Ata>Tta p.I362L ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron NM_006209.4 NP_006200.3 Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 324 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) ATCCTATGTATTTTTCTTCTT 0.448000 58 105 0 0 1 0 0 DCUN1D4 23142 broad.mit.edu 37 4 52779750 52779750 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:52779750G>A ENST00000334635.5 + 11 1059 c.879G>A c.(877-879)taG>taA p.*293* DCUN1D4_ENST00000381441.3_Silent_p.*258*|DCUN1D4_ENST00000451288.2_Silent_p.*337*|DCUN1D4_ENST00000381437.4_Silent_p.*233* NM_001040402.1 NP_001035492.1 Q92564 DCNL4_HUMAN DCN1, defective in cullin neddylation 1, domain containing 4 0 endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1) 9 GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654) AGATGTCCTAGGACTTTATGC 0.403000 21 39 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54799343 54799343 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:54799343C>T ENST00000545554.1 + 22 5330 c.5330C>T c.(5329-5331)gCt>gTt p.A1777V UNC13C_ENST00000260323.11_Missense_Mutation_p.A1777V|UNC13C_ENST00000537900.1_Missense_Mutation_p.A1775V Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1777 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) CTCCAGTATGCTGCAATTGTA 0.318000 6 15 0 0 1 0 0 C7orf66 154907 broad.mit.edu 37 7 108524198 108524198 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:108524198G>A ENST00000379007.2 - 2 268 c.214C>T c.(214-216)Cac>Tac p.H72Y NM_001024607.1 NP_001019778.1 A4D0T2 CG066_HUMAN chromosome 7 open reading frame 66 72 integral to membrane breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 15 TCCATCATGTGACGATATTGA 0.413000 113 134 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134073136 134073136 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:134073136C>G ENST00000264360.4 + 1 2667 c.1841C>G c.(1840-1842)gCc>gGc p.A614G NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 614 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GGCGAGAACGCCCGGCTCACT 0.697000 14 45 0 0 1 0 0 OR4D6 219983 broad.mit.edu 37 11 59224883 59224883 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:59224883G>C ENST00000300127.2 + 1 473 c.450G>C c.(448-450)gtG>gtC p.V150V NM_001004708.1 NP_001004708.1 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, member 6 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 CTTCTTGGGTGAGTGGTGGTT 0.517000 56 122 0 0 1 0 0 PPM1E 22843 broad.mit.edu 37 17 57058310 57058310 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:57058310G>C ENST00000308249.2 + 7 2315 c.2186G>C c.(2185-2187)gGg>gCg p.G729A NM_014906.4 NP_055721.3 Q8WY54 PPM1E_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1E 738 protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) AGTTGGAAAGGGTACAGTGAA 0.408000 42 65 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57868441 57868441 + Missense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:57868441A>T ENST00000393797.2 - 17 2159 c.1967T>A c.(1966-1968)gTg>gAg p.V656E ARHGAP9_ENST00000393791.3_Missense_Mutation_p.V566E|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.V585E|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.V645E|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.V566E|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.V382E Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 585 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CTTCTGGACCACTGCCAAGTT 0.522000 49 68 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478633 21478633 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:21478633C>A ENST00000281523.2 - 5 1020 c.502G>T c.(502-504)Gtt>Ttt p.V168F ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 168 Thr-rich. nucleus nucleic acid binding|zinc ion binding p.V168I(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GTTGTCATAACACTGCTTTTG 0.443000 52 51 5.57489e-27 7.43319e-27 1 1 0 WDR17 116966 broad.mit.edu 37 4 177071209 177071209 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:177071209C>A ENST00000393643.2 + 15 2315 c.2063C>A c.(2062-2064)cCa>cAa p.P688Q WDR17_ENST00000507824.2_Missense_Mutation_p.P695Q|WDR17_ENST00000280190.4_Missense_Mutation_p.P712Q|WDR17_ENST00000508596.1_Missense_Mutation_p.P688Q NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 712 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GCTATAGAACCAGGCACTCCT 0.318000 34 60 1.56442e-22 2.03933e-22 1 1 0 OR10G4 390264 broad.mit.edu 37 11 123887132 123887132 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:123887132C>T ENST00000320891.4 + 1 851 c.851C>T c.(850-852)cCt>cTt p.P284L NM_001004462.1 NP_001004462.1 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, member 4 284 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1) 48 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) CTTCTCAACCCTGTTGTGTAC 0.453000 18 64 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884145 228884145 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:228884145G>T ENST00000392056.3 - 7 1471 c.1425C>A c.(1423-1425)gtC>gtA p.V475V SPHKAP_ENST00000344657.5_Silent_p.V475V NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 475 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTTCAACAGAGACTTCCATCT 0.537000 24 51 1.22574e-08 1.36609e-08 1 1 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 4 63 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189597916 189597916 + Silent SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:189597916T>C ENST00000418709.2 + 11 1441 c.1413T>C c.(1411-1413)tcT>tcC p.S471S TP63_ENST00000440651.2_Intron|TP63_ENST00000392463.2_Intron|TP63_ENST00000354600.5_Intron|TP63_ENST00000264731.3_Intron|TP63_ENST00000437221.1_Silent_p.S377S|TP63_ENST00000392461.3_Intron|TP63_ENST00000382063.4_Intron|TP63_ENST00000320472.5_Intron|TP63_ENST00000392460.3_Intron|TP63_ENST00000449992.1_Intron|TP63_ENST00000456148.1_Intron NM_001114979.1 NP_001108451.1 Q9H3D4 P63_HUMAN tumor protein p63 0 anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) CAAAACAATCTGACGTCTTCT 0.443000 HNSCC(45;0.13) 26 63 0 0 1 0 0 AGTR1 185 broad.mit.edu 37 3 148459268 148459268 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:148459268G>A ENST00000542281.1 + 4 892 c.446G>A c.(445-447)tGc>tAc p.C149Y AGTR1_ENST00000497524.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000474935.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000461609.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000404754.2_Missense_Mutation_p.C149Y|AGTR1_ENST00000475347.1_Missense_Mutation_p.C149Y|AGTR1_ENST00000418473.2_Missense_Mutation_p.C149Y|AGTR1_ENST00000349243.3_Missense_Mutation_p.C149Y|AGTR1_ENST00000402260.1_Missense_Mutation_p.C149Y NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 149 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) AAAGTCACCTGCATCATCATT 0.453000 73 131 0 0 1 0 0 OTOGL 283310 broad.mit.edu 37 12 80672909 80672909 + Missense_Mutation SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:80672909A>G ENST00000458043.2 + 25 2870 c.2864A>G c.(2863-2865)tAt>tGt p.Y955C OTOGL_ENST00000547103.1_Missense_Mutation_p.Y955C NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 GGACTAGAATATGACTATATC 0.353000 17 85 0 0 1 0 0 LILRB1 10859 broad.mit.edu 37 19 55143681 55143681 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:55143681G>C ENST00000396331.1 + 6 1011 c.654G>C c.(652-654)ctG>ctC p.L218L LILRB1_ENST00000448689.1_Silent_p.L218L|LILRB1_ENST00000427581.2_Silent_p.L254L|LILRB1_ENST00000396317.1_Silent_p.L218L|LILRB1_ENST00000434867.2_Silent_p.L218L|LILRB1_ENST00000396315.1_Silent_p.L218L|LILRB1_ENST00000396327.3_Silent_p.L218L|LILRB1_ENST00000418536.2_Silent_p.L218L|LILRB1_ENST00000396321.2_Silent_p.L218L|LILRB1_ENST00000324602.7_Silent_p.L218L|LILRB1_ENST00000396332.4_Silent_p.L218L NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 218 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) TGGAGCTCCTGGTCCTAGGTG 0.582000 HNSCC(37;0.09) 45 100 0 0 1 0 0 KLRC2 3822 broad.mit.edu 37 12 10587972 10587972 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:10587972G>T ENST00000381902.2 - 2 231 c.225C>A c.(223-225)gtC>gtA p.V75V KLRC2_ENST00000381901.1_Silent_p.V75V|NKG2-E_ENST00000539033.1_Silent_p.V75V|KLRC2_ENST00000536833.2_Silent_p.V16V NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 75 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 TGATTCCTAGGACCTCGGCAG 0.428000 24 212 2.47511e-08 2.73244e-08 1 1 0 CACNA1A 773 broad.mit.edu 37 19 13565959 13565959 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:13565959G>C ENST00000360228.5 - 2 360 c.361C>G c.(361-363)Ctg>Gtg p.L121V CACNA1A_ENST00000573710.2_Missense_Mutation_p.L121V NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 121 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCATCAGGCAGATGCTGCTCC 0.448000 76 142 0 0 1 0 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 5 68 0 0 1 0 0 CCDC42 146849 broad.mit.edu 37 17 8647480 8647480 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:8647480C>T ENST00000293845.3 - 2 332 c.106G>A c.(106-108)Gcg>Acg p.A36T CCDC42_ENST00000539522.2_Missense_Mutation_p.A36T NM_144681.2 NP_653282.2 Q96M95 CCD42_HUMAN coiled-coil domain containing 42 36 kidney(1)|large_intestine(4)|lung(3)|ovary(1) 9 GACTCCGACGCCCCCTCAACA 0.542000 59 29 0 0 1 0 0 HSPA12A 259217 broad.mit.edu 37 10 118451953 118451953 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:118451953T>A ENST00000369209.3 - 6 676 c.572A>T c.(571-573)gAg>gTg p.E191V NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 191 ATP binding breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) GTTCTCGAACTCCGAACCCGC 0.567000 40 160 0 0 1 0 0 TUBA1B 10376 broad.mit.edu 37 12 49521986 49521986 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:49521986C>A ENST00000336023.5 - 4 1205 c.1111G>T c.(1111-1113)Gta>Tta p.V371L RP11-386G11.10_ENST00000548149.1_RNA|RP11-386G11.10_ENST00000547387.1_RNA|RP11-386G11.10_ENST00000552893.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 371 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 GCTCTCTGTACCTTGGCCAGG 0.577000 22 18 3.11337e-16 3.82781e-16 1 1 0 RP3-368A4.5 0 broad.mit.edu 37 X 73423446 73423446 + RNA SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:73423446G>C ENST00000603037.1 - 0 514 ACTTTCCTTTGAGGGTCTTCG 0.438000 11 6 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141665506 141665506 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:141665506C>A ENST00000389484.3 - 22 4431 c.3460G>T c.(3460-3462)Gag>Tag p.E1154* NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1154 LDL-receptor class A 10. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGAGTTTCTCTGGCTGCAGG 0.448000 TSP Lung(27;0.18) 40 113 3.38236e-24 4.45891e-24 1 1 0 RYR2 6262 broad.mit.edu 37 1 237656291 237656291 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:237656291G>T ENST00000366574.2 + 19 2182 c.1865G>T c.(1864-1866)gGg>gTg p.G622V RYR2_ENST00000360064.6_Missense_Mutation_p.G620V|RYR2_ENST00000542537.1_Missense_Mutation_p.G606V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 622 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTTGCCACGGGGTTGCAGTC 0.502000 18 21 3.99206e-14 4.76761e-14 1 1 0 RFX6 222546 broad.mit.edu 37 6 117252625 117252625 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:117252625C>A ENST00000332958.2 + 19 2759 c.2743C>A c.(2743-2745)Cct>Act p.P915T NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 915 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CTCTTTACCACCTATCAACAC 0.448000 33 60 1.08312e-15 1.32055e-15 1 1 0 SHCBP1 79801 broad.mit.edu 37 16 46650005 46650005 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:46650005C>A ENST00000303383.3 - 4 715 c.449G>T c.(448-450)tGt>tTt p.C150F NM_024745.4 NP_079021.3 Q8NEM2 SHCBP_HUMAN SHC SH2-domain binding protein 1 150 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) TTGAGAGTCACAGAGGTATGG 0.468000 26 78 1.77063e-15 2.14979e-15 1 1 0 TECPR1 25851 broad.mit.edu 37 7 97860318 97860318 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:97860318C>T ENST00000447648.2 - 15 2536 c.2237G>A c.(2236-2238)aGc>aAc p.S746N TECPR1_ENST00000379795.3_Missense_Mutation_p.S747N|TECPR1_ENST00000542604.1_Missense_Mutation_p.S676N Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 746 S -> T (in Ref. 6; CAB55961). integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CAGGTCTGGGCTGGGCTCGCT 0.692000 5 38 0 0 1 0 0 SQRDL 58472 broad.mit.edu 37 15 45968409 45968409 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:45968409C>T ENST00000260324.7 + 6 1151 c.765C>T c.(763-765)ctC>ctT p.L255L SQRDL_ENST00000568606.1_Silent_p.L255L|RP11-96O20.4_ENST00000564080.1_Silent_p.L255L NM_021199.2 NP_067022.1 Q9Y6N5 SQRD_HUMAN sulfide quinone reductase-like (yeast) 255 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2) 11 Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417) all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188) AGCGGAACCTCACTGTTAACT 0.458000 52 119 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 117002759 117002759 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:117002759G>A ENST00000356083.3 + 21 3218 c.2827G>A c.(2827-2829)Ggg>Agg p.G943R NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 943 Collagen-like 6.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 TGGGCAGCTGGGGCCCGAGGT 0.662000 40 82 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95381781 95381781 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:95381781G>A ENST00000371447.3 + 4 954 c.816G>A c.(814-816)ctG>ctA p.L272L NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 272 GAF 2. visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) GATCATATCTGAACTGTGAAC 0.403000 6 89 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176679229 176679229 + Nonsense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:176679229C>T ENST00000367662.3 + 11 4732 c.3568C>T c.(3568-3570)Caa>Taa p.Q1190* NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1190 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ATACTTGGATCAATGGGCTAC 0.453000 17 95 0 0 1 0 0 AHCY 191 broad.mit.edu 37 20 32880204 32880204 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr20:32880204G>A ENST00000538132.1 - 4 707 c.321C>T c.(319-321)ctC>ctT p.L107L AHCY_ENST00000217426.2_Silent_p.L135L|AHCY_ENST00000468908.1_5'UTR NM_001161766.1 NP_001155238.1 P23526 SAHH_HUMAN adenosylhomocysteinase 135 methylation|xenobiotic metabolic process cytosol|melanosome adenosylhomocysteinase activity|protein binding endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TGAGGTTGGTGAGGTCGCCCC 0.637000 6 42 0 0 1 0 0 LRRC6 23639 broad.mit.edu 37 8 133673769 133673769 + Missense_Mutation SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:133673769T>C ENST00000519595.1 - 2 213 c.115A>G c.(115-117)Att>Gtt p.I39V LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.I39V|LRRC6_ENST00000518642.1_Missense_Mutation_p.I39V Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 39 cytoplasm breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CATTTATCAATGTGTTCTAGT 0.358000 27 84 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152623178 152623178 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:152623178C>A ENST00000367255.5 - 92 17968 c.17367G>T c.(17365-17367)aaG>aaT p.K5789N SYNE1_ENST00000265368.4_Missense_Mutation_p.K5789N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K5401N|SYNE1_ENST00000356820.4_Missense_Mutation_p.K313N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K5718N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K5718N NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5789 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCTGGTAGCCCTTAATTTTCT 0.532000 HNSCC(10;0.0054) 25 95 7.38237e-10 8.38775e-10 1 1 0 DGKZ 8525 broad.mit.edu 37 11 46396315 46396315 + Splice_Site SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:46396315G>C ENST00000454345.1 + 19 2213 c.e19-1 DGKZ_ENST00000456247.2_Splice_Site|DGKZ_ENST00000528615.1_Splice_Site|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Splice_Site|DGKZ_ENST00000527911.1_Splice_Site|DGKZ_ENST00000395574.3_Splice_Site|DGKZ_ENST00000421244.2_Splice_Site|DGKZ_ENST00000343674.6_Splice_Site|DGKZ_ENST00000318201.8_Splice_Site NM_001105540.1 NP_001099010.1 Q13574 DGKZ_HUMAN diacylglycerol kinase, zeta activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1) 25 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CCCGCCTCCAGTGTGATGGAA 0.652000 3 51 0 0 1 0 0 FER1L5 90342 broad.mit.edu 37 2 97368398 97368398 + RNA SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:97368398G>T ENST00000457909.1 + 0 4820 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CTCGCTGACTGGGGAGGCCGA 0.582000 10 16 7.48243e-07 8.06225e-07 1 1 0 ERBB3 2065 broad.mit.edu 37 12 56477587 56477587 + Silent SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:56477587A>G ENST00000267101.3 + 2 575 c.135A>G c.(133-135)caA>caG p.Q45Q ERBB3_ENST00000415288.2_5'UTR|ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000411731.2_Silent_p.Q45Q NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 45 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTGAGAACCAATACCAGACAC 0.547000 73 90 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62284988 62284988 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:62284988C>A ENST00000378024.4 - 5 17175 c.16901G>T c.(16900-16902)gGa>gTa p.G5634V AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5634 Gly-rich. nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGCCTGGAGTCCAATCTGACC 0.493000 53 86 2.48909e-17 3.08626e-17 1 1 0 RBM26 64062 broad.mit.edu 37 13 79894824 79894824 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr13:79894824C>G ENST00000438737.2 - 22 3396 c.2956G>C c.(2956-2958)Gat>Cat p.D986H RBM26_ENST00000438724.1_Missense_Mutation_p.D962H|RBM26_ENST00000267229.7_Missense_Mutation_p.D959H Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 986 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) AATGAGTCATCCACCAAAGAC 0.313000 17 40 0 0 1 0 0 TBC1D14 57533 broad.mit.edu 37 4 6925573 6925573 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:6925573G>A ENST00000409757.4 + 2 581 c.457G>A c.(457-459)Gat>Aat p.D153N TBC1D14_ENST00000448507.1_Missense_Mutation_p.D153N NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 153 intracellular Rab GTPase activator activity breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 CCGCAGCGATGATGTCTCCGT 0.587000 8 87 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8317912 8317912 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:8317912G>T ENST00000381196.4 - 43 6244 c.5701C>A c.(5701-5703)Cta>Ata p.L1901I PTPRD_ENST00000540109.1_Missense_Mutation_p.L1901I|PTPRD_ENST00000537002.1_Missense_Mutation_p.L1491I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L1879I|PTPRD_ENST00000486161.1_Missense_Mutation_p.L1494I|PTPRD_ENST00000356435.5_Missense_Mutation_p.L1901I|PTPRD_ENST00000355233.5_Missense_Mutation_p.L1495I|PTPRD_ENST00000397606.3_Missense_Mutation_p.L1494I|PTPRD_ENST00000397611.3_Missense_Mutation_p.L1491I|PTPRD_ENST00000360074.4_Missense_Mutation_p.L1888I|PTPRD_ENST00000397617.3_Missense_Mutation_p.L1494I NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1901 Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AGGTACTCTAGTGCGGCACGA 0.428000 TSP Lung(15;0.13) 53 61 2.47907e-22 3.22444e-22 1 1 0 ACAN 176 broad.mit.edu 37 15 89402183 89402183 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:89402183G>C ENST00000439576.2 + 12 6741 c.6367G>C c.(6367-6369)Gat>Cat p.D2123H ACAN_ENST00000559004.1_Missense_Mutation_p.D2123H|ACAN_ENST00000561243.1_Missense_Mutation_p.D2123H|ACAN_ENST00000352105.7_Missense_Mutation_p.D2123H NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2123 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CAGCAGAGAAGATTCTGGGTC 0.547000 5 67 0 0 1 0 0 SH3PXD2A 9644 broad.mit.edu 37 10 105363339 105363339 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:105363339C>G ENST00000369774.4 - 15 1912 c.1636G>C c.(1636-1638)Gac>Cac p.D546H SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.D381H|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D518H|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D413H Q5TCZ1 SPD2A_HUMAN SH3 and PX domains 2A 546 cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1) 38 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) CGCGGGGAGTCCTGGCTCTCA 0.667000 24 63 0 0 1 0 0 ULK1 8408 broad.mit.edu 37 12 132404649 132404649 + Nonsense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:132404649G>T ENST00000321867.4 + 26 3280 c.2929G>T c.(2929-2931)Gag>Tag p.E977* ULK1_ENST00000540647.1_Nonsense_Mutation_p.E222* NM_003565.2 NP_003556.1 O75385 ULK1_HUMAN unc-51 like autophagy activating kinase 1 977 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 29 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CATCACTGCCGAGAGGCTCAT 0.652000 8 28 9.70103e-10 1.09795e-09 1 1 0 DNAH1 25981 broad.mit.edu 37 3 52406980 52406980 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:52406980C>A ENST00000420323.2 + 44 7157 c.6896C>A c.(6895-6897)cCg>cAg p.P2299Q NM_015512.4 NP_056327.4 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2299 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGAACATGCCGGCCCTGGAG 0.617000 27 36 7.01153e-11 8.02889e-11 1 1 0 LEPR 3953 broad.mit.edu 37 1 66088592 66088592 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:66088592G>T ENST00000349533.6 + 19 2786 c.2601G>T c.(2599-2601)atG>atT p.M867I LEPR_ENST00000371060.3_Missense_Mutation_p.M867I|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.M867I|LEPR_ENST00000344610.8_Missense_Mutation_p.M867I|LEPR_ENST00000371059.3_Missense_Mutation_p.M867I NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 867 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TTTGTAGAATGAAAAAGCTAT 0.358000 16 29 9.16793e-09 1.02568e-08 1 1 0 LGSN 51557 broad.mit.edu 37 6 63990815 63990815 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:63990815C>A ENST00000370657.4 - 4 674 c.641G>T c.(640-642)gGt>gTt p.G214V LGSN_ENST00000370658.5_Intron Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 214 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TTCGGGCACACCAAAAATGCA 0.403000 14 48 0.000151284 0.000157487 1 1 0 WDR47 22911 broad.mit.edu 37 1 109529169 109529169 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:109529169G>A ENST00000357672.3 - 9 2192 c.1817C>T c.(1816-1818)gCc>gTc p.A606V WDR47_ENST00000361054.3_Missense_Mutation_p.A606V|WDR47_ENST00000400794.3_Missense_Mutation_p.A642V|WDR47_ENST00000369962.3_Missense_Mutation_p.A634V|WDR47_ENST00000369965.4_Missense_Mutation_p.A635V O94967 WDR47_HUMAN WD repeat domain 47 634 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) ATCTGGATAGGCACATACTCT 0.378000 25 49 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41004499 41004499 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:41004499C>G ENST00000399564.4 - 37 4593 c.4143G>C c.(4141-4143)gtG>gtC p.V1381V MROH2B_ENST00000506092.2_Silent_p.V936V NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B AGTAGAAGCTCACGTCTCGGT 0.468000 28 109 0 0 1 0 0 CAMK1G 57172 broad.mit.edu 37 1 209782338 209782338 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:209782338C>G ENST00000009105.1 + 8 894 c.649C>G c.(649-651)Ccc>Gcc p.P217A CAMK1G_ENST00000361322.2_Missense_Mutation_p.P217A|CAMK1G_ENST00000494990.1_3'UTR Q96NX5 KCC1G_HUMAN calcium/calmodulin-dependent protein kinase IG 217 Protein kinase. Golgi membrane|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.0475) CTGTGGATACCCCCCATTCTA 0.512000 24 122 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389980 48389980 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:48389980C>A ENST00000224600.4 - 1 1011 c.898G>T c.(898-900)Ggg>Tgg p.G300W NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 300 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGCAGCACCCCGCTGCCCTCC 0.677000 18 35 1.56452e-12 1.82736e-12 1 1 0 TMEM31 203562 broad.mit.edu 37 X 102968635 102968635 + Missense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:102968635A>T ENST00000319560.6 + 3 407 c.216A>T c.(214-216)gaA>gaT p.E72D GLRA4_ENST00000372617.4_Intron NM_182541.2 NP_872347.2 Q5JXX7 TMM31_HUMAN transmembrane protein 31 72 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(3) 7 ACCTTCTTGAAGTCCTTCCGT 0.478000 57 27 0 0 1 0 0 GTPBP1 9567 broad.mit.edu 37 22 39123305 39123305 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr22:39123305C>G ENST00000216044.5 + 9 1722 c.1489C>G c.(1489-1491)Ctc>Gtc p.L497V NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 497 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) GGCCGAGATTCTCGTCCTCCA 0.597000 4 73 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516082 140516082 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:140516082C>A ENST00000231134.5 + 1 1283 c.1066C>A c.(1066-1068)Cca>Aca p.P356T NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 356 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGCCCTACCCCAGAAAATGC 0.522000 52 52 1.30409e-13 1.5511e-13 1 1 0 DCLRE1C 64421 broad.mit.edu 37 10 14977537 14977537 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:14977537G>T ENST00000453695.2 - 6 473 c.29C>A c.(28-30)aCt>aAt p.T10N DCLRE1C_ENST00000378249.1_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.T130N|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.T10N|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.T15N|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.T130N NM_001033855.1 NP_001029027.1 Q96SD1 DCR1C_HUMAN DNA cross-link repair 1C 130 DNA recombination nucleus 5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1) 17 GTACAGGACAGTTCCATTATT 0.443000 Non-homologous end-joining 56 125 3.28156e-27 4.38542e-27 1 1 0 UBA7 7318 broad.mit.edu 37 3 49850743 49850743 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:49850743C>G ENST00000333486.3 - 3 457 c.299G>C c.(298-300)aGa>aCa p.R100T UBA7_ENST00000494212.1_5'UTR NM_003335.2 NP_003326.2 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 100 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTGGACAGCTCTGTTGAGCTG 0.592000 4 34 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47408863 47408863 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:47408863G>T ENST00000398879.1 - 17 1746 c.1380C>A c.(1378-1380)gcC>gcA p.A460A TNS3_ENST00000311160.9_Silent_p.A460A|TNS3_ENST00000355730.3_Intron Q68CZ2 TENS3_HUMAN tensin 3 460 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 CGTGAACCTGGGCTGGCACCA 0.577000 22 43 2.37509e-13 2.8078e-13 1 1 0 RDH8 50700 broad.mit.edu 37 19 10132278 10132278 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:10132278G>A ENST00000591589.1 + 6 1038 c.849G>A c.(847-849)ccG>ccA p.P283P RDH8_ENST00000171214.1_Silent_p.P263P Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 263 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) GCTACTCGCCGCTGACCACGC 0.627000 29 39 0 0 1 0 0 CHRNA9 55584 broad.mit.edu 37 4 40337875 40337875 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:40337875G>C ENST00000310169.2 + 2 235 c.96G>C c.(94-96)caG>caC p.Q32H NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 32 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) AATATGCTCAGAAGTTGTTTA 0.403000 5 59 0 0 1 0 0 PCSK2 5126 broad.mit.edu 37 20 17446187 17446187 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr20:17446187G>A ENST00000262545.2 + 11 1734 c.1419G>A c.(1417-1419)gtG>gtA p.V473V PCSK2_ENST00000377899.1_Silent_p.V454V|PCSK2_ENST00000536609.1_Silent_p.V438V|PCSK2_ENST00000459871.1_3'UTR NM_002594.3 NP_002585.2 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 473 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAGGCTCCGTGCAGGACCCTG 0.542000 6 27 0 0 1 0 0 KIAA1244 57221 broad.mit.edu 37 6 138655531 138655531 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:138655531G>A ENST00000251691.4 + 33 5714 c.5548G>A c.(5548-5550)Gat>Aat p.D1850N NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1850 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) GAGAAGCACGGATTCTTCCCA 0.542000 6 13 0 0 1 0 0 STEAP3 55240 broad.mit.edu 37 2 120005678 120005678 + Missense_Mutation SNP G G A rs139027075 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:120005678G>A ENST00000354888.5 + 4 1420 c.916G>A c.(916-918)Ggg>Agg p.G306R STEAP3_ENST00000450943.2_Missense_Mutation_p.G306R|STEAP3_ENST00000409811.1_Missense_Mutation_p.G306R|STEAP3_ENST00000393107.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393108.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393110.2_Missense_Mutation_p.G316R|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.G306R|STEAP3_ENST00000393106.2_Missense_Mutation_p.G306R NM_182915.2 NP_878919.2 Q658P3 STEA3_HUMAN STEAP family member 3, metalloreductase 306 Ferric oxidoreductase. apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport endosome membrane|integral to membrane|multivesicular body electron carrier activity|flavin adenine dinucleotide binding|iron ion binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 17 CAAGCAGATCGGGCTGCTCAG 0.692000 4 42 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16531875 16531875 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:16531875C>A ENST00000270747.3 - 10 1763 c.1627G>T c.(1627-1629)Gcc>Tcc p.A543S ARHGEF19_ENST00000478117.1_5'UTR|ARHGEF19_ENST00000421561.1_Intron NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 543 DH. regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GCCTTGGTGGCCATGTCTTCG 0.617000 12 28 1.3612e-06 1.45861e-06 1 1 0 VGLL2 245806 broad.mit.edu 37 6 117586936 117586936 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:117586936C>T ENST00000326274.5 + 1 200 c.10C>T c.(10-12)Ctg>Ttg p.L4L VGLL2_ENST00000352536.3_Silent_p.L4L NM_182645.2 NP_872586.1 Q8N8G2 VGLL2_HUMAN vestigial like 2 (Drosophila) 4 transcription, DNA-dependent nucleus central_nervous_system(1)|kidney(1)|lung(3) 5 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) CATGAGCTGTCTGGATGTTAT 0.582000 7 26 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152188305 152188305 + Silent SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:152188305A>G ENST00000368801.2 - 3 5875 c.5800T>C c.(5800-5802)Ttg>Ctg p.L1934L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1934 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCGTGGCCCAAAGACTGACGG 0.587000 47 1593 0 0 1 0 0 OR1I1 126370 broad.mit.edu 37 19 15197928 15197928 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:15197928T>A ENST00000209540.2 + 1 138 c.52T>A c.(52-54)Tca>Aca p.S18T NM_001004713.1 NP_001004713.1 O60431 OR1I1_HUMAN olfactory receptor, family 1, subfamily I, member 1 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2) 20 CCAGGGACTCTCAGAAAAGCC 0.468000 21 45 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10941928 10941928 + Missense_Mutation SNP A A C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr21:10941928A>C ENST00000298232.7 - 13 1088 c.721T>G c.(721-723)Ttc>Gtc p.F241V TPTE_ENST00000361285.4_Missense_Mutation_p.F259V|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.F221V NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 259 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTTCTATAGAAAGACTGCCTT 0.313000 48 398 0 0 1 0 0 GSTM4 2948 broad.mit.edu 37 1 110201531 110201531 + Splice_Site SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:110201531G>A ENST00000369833.1 + 4 1247 c.333_splice c.e4+1 p.K111_splice GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Splice_Site_p.K91_splice|GSTM4_ENST00000326729.5_Splice_Site_p.K152_splice|GSTM4_ENST00000369836.4_Splice_Site_p.K152_splice Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 152 GST C-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) TTGGAGACAAGGTAATGGGGG 0.483000 10 184 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179574494 179574494 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:179574494C>G ENST00000589042.1 - 99 28776 c.28552G>C c.(28552-28554)Gct>Cct p.A9518P TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8274P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A9201P|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9201 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGGGAACCAGCCACACGTCCC 0.393000 64 118 0 0 1 0 0 HNRNPM 4670 broad.mit.edu 37 19 8531242 8531242 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:8531242G>C ENST00000348943.3 + 8 869 c.637G>C c.(637-639)Gaa>Caa p.E213Q HNRNPM_ENST00000325495.4_Missense_Mutation_p.E252Q NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 252 RRM 2. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 TGTTACTTTTGAACAGTCCAT 0.393000 9 144 0 0 1 0 0 ALAS1 211 broad.mit.edu 37 3 52245381 52245381 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:52245381C>T ENST00000394965.2 + 10 1773 c.1413C>T c.(1411-1413)ttC>ttT p.F471F ALAS1_ENST00000484952.1_Silent_p.F471F|ALAS1_ENST00000469224.1_Silent_p.F471F|ALAS1_ENST00000310271.2_Silent_p.F471F NM_000688.5 NP_000679.1 P13196 HEM1_HUMAN aminolevulinate, delta-, synthase 1 471 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CTGCTGGCTTCATCTTCACCA 0.597000 4 33 0 0 1 0 0 CAPRIN2 65981 broad.mit.edu 37 12 30873754 30873754 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:30873754C>G ENST00000251071.5 - 12 2889 c.2139G>C c.(2137-2139)gaG>gaC p.E713D CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.E713D|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.E380D|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.E713D NM_001002259.1|NM_032156.3 NP_001002259.1|NP_115532.3 Q6IMN6 CAPR2_HUMAN caprin family member 2 713 negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter mitochondrion|receptor complex receptor binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 48 all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CCTCAGGAGTCTCTGAGGTCA 0.373000 49 63 0 0 1 0 0 AIMP2 7965 broad.mit.edu 37 7 6049120 6049120 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:6049120C>T ENST00000223029.3 + 1 245 c.126C>T c.(124-126)ggC>ggT p.G42G AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Silent_p.G42G NM_006303.3 NP_006294.2 Q13155 AIMP2_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 42 apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation cytosol|nucleus protein binding large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 CGGGCGCTGGCCACGTGCAGG 0.771000 14 30 0 0 1 0 0 VPS39 23339 broad.mit.edu 37 15 42470704 42470704 + Silent SNP C C T rs138294459 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:42470704C>T ENST00000318006.5 - 9 945 c.783G>A c.(781-783)ccG>ccA p.P261P VPS39_ENST00000348544.4_Silent_p.P272P NM_015289.2 NP_056104.2 Q96JC1 VPS39_HUMAN vacuolar protein sorting 39 homolog (S. cerevisiae) 272 CNH. protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) CCAGAAGCCTCGGTTCAAATG 0.453000 36 67 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128840371 128840371 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:128840371G>A ENST00000310343.9 - 22 4694 c.4695C>T c.(4693-4695)gtC>gtT p.V1565V ARHGAP32_ENST00000527272.1_Silent_p.V1216V|ARHGAP32_ENST00000392657.3_Silent_p.V1216V|ARHGAP32_ENST00000524655.1_3'UTR NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1565 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 AGGTATTCCTGACAGAGGAGC 0.532000 17 44 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24832592 24832592 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:24832592G>A ENST00000376451.2 + 14 3702 c.3442G>A c.(3442-3444)Gag>Aag p.E1148K KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.E1465K|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376452.3_Intron Q5T5P2 SKT_HUMAN KIAA1217 1465 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AACTATCTTTGAGGAATGTGA 0.438000 20 46 0 0 1 0 0 PAX8 7849 broad.mit.edu 37 2 113984752 113984752 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:113984752G>A ENST00000429538.3 - 10 1363 c.1169C>T c.(1168-1170)gCc>gTc p.A390V AC016683.6_ENST00000456685.1_RNA|PAX8_ENST00000263334.5_Missense_Mutation_p.P364S|PAX8_ENST00000348715.5_Missense_Mutation_p.P364S|PAX8_ENST00000263335.7_Missense_Mutation_p.P287S|PAX8_ENST00000397647.3_Intron NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 390 branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 GCCTGCGATGGCAGAGGAGGC 0.612000 T PPARG follicular thyroid Thyroid dysgenesis 4 5 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53272347 53272347 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:53272347G>C ENST00000566029.1 + 12 2935 c.2726G>C c.(2725-2727)gGa>gCa p.G909A CHD9_ENST00000398510.3_Missense_Mutation_p.G909A|CHD9_ENST00000564845.1_Missense_Mutation_p.G909A|CHD9_ENST00000447540.1_Missense_Mutation_p.G909A Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 909 Helicase ATP-binding. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) GGTATAAGAGGACCTTTCCTG 0.393000 28 83 0 0 1 0 0 SDPR 8436 broad.mit.edu 37 2 192711642 192711642 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:192711642C>G ENST00000304141.4 - 1 339 c.10G>C c.(10-12)Gac>Cac p.D4H AC098617.1_ENST00000424116.2_RNA NM_004657.5 NP_004648.1 O95810 SDPR_HUMAN serum deprivation response 4 caveola|cytosol phosphatidylserine binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3) 23 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) TGTGCAGCGTCCTCTCCCATG 0.622000 21 41 0 0 1 0 0 DPPA2 151871 broad.mit.edu 37 3 109023481 109023481 + Missense_Mutation SNP G G A rs151045476 byFrequency TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:109023481G>A ENST00000478945.1 - 7 941 c.695C>T c.(694-696)tCg>tTg p.S232L NM_138815.3 NP_620170.3 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 232 nucleus nucleic acid binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGTGTCTGCCGAGAGAAGTCT 0.512000 5 75 0 0 1 0 0 CCDC9 26093 broad.mit.edu 37 19 47761887 47761887 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:47761887G>T ENST00000221922.6 + 3 297 c.75G>T c.(73-75)cgG>cgT p.R25R NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 25 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) AGGCTCTTCGGCGGAAGAATG 0.592000 31 73 3.11337e-16 3.82781e-16 1 1 0 ABCG2 9429 broad.mit.edu 37 4 89052265 89052265 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:89052265C>T ENST00000237612.3 - 5 1024 c.479G>A c.(478-480)cGg>cAg p.R160Q ABCG2_ENST00000515655.1_Missense_Mutation_p.R160Q NM_004827.2 NP_004818.2 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G (WHITE), member 2 160 ABC transporter. cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) CCTGTTAATCCGTTCGTTTTT 0.423000 31 127 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62284989 62284989 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:62284989C>A ENST00000378024.4 - 5 17174 c.16900G>T c.(16900-16902)Gga>Tga p.G5634* AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 5634 Gly-rich. nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) GCCTGGAGTCCAATCTGACCT 0.493000 52 88 1.57914e-17 1.96635e-17 1 1 0 ZNF492 57615 broad.mit.edu 37 19 22847473 22847473 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:22847473G>T ENST00000456783.2 + 4 1246 c.1002G>T c.(1000-1002)gaG>gaT p.E334D NM_020855.2 NP_065906.1 Q9P255 ZN492_HUMAN zinc finger protein 492 334 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ATTCTGGAGAGAAACCCTACA 0.373000 10 27 5.50884e-06 5.84938e-06 1 1 0 IGHV1OR16-4 28312 broad.mit.edu 37 16 33013869 33013869 + RNA SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:33013869T>C ENST00000567619.1 - 0 499 GCCAGGCTTCTGGATACACCT 0.552000 22 10 0 0 1 0 0 C14orf39 317761 broad.mit.edu 37 14 60921825 60921825 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr14:60921825T>A ENST00000321731.3 - 16 1556 c.1397A>T c.(1396-1398)gAa>gTa p.E466V NM_174978.2 NP_777638.2 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 466 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) GGATTCCTTTTCTGTTTGAAC 0.294000 118 47 0 0 1 0 0 DPPA4 55211 broad.mit.edu 37 3 109047884 109047884 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:109047884C>A ENST00000335658.6 - 6 785 c.731G>T c.(730-732)gGt>gTt p.G244V NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 244 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 GTGAACCCAACCATCTGTGTC 0.522000 14 27 0.000308642 0.000318457 1 1 0 DCBLD1 285761 broad.mit.edu 37 6 117846586 117846586 + Nonsense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:117846586G>T ENST00000338728.5 + 5 694 c.574G>T c.(574-576)Gga>Tga p.G192* GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Nonsense_Mutation_p.G192*|DCBLD1_ENST00000368503.4_Nonsense_Mutation_p.G192* Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 192 LCCL. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) TATGGTAGATGGATATAGAGA 0.323000 25 62 3.57733e-08 3.91962e-08 1 1 0 DST 667 broad.mit.edu 37 6 56416991 56416991 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:56416991G>C ENST00000370754.5 - 61 16505 c.16506C>G c.(16504-16506)aaC>aaG p.N5502K DST_ENST00000361203.3_Missense_Mutation_p.N5322K|DST_ENST00000244364.6_Missense_Mutation_p.N2910K|DST_ENST00000446842.2_Missense_Mutation_p.N4998K|DST_ENST00000421834.2_Missense_Mutation_p.N3236K|DST_ENST00000370788.2_Missense_Mutation_p.N3236K|DST_ENST00000370769.4_Missense_Mutation_p.N5324K|DST_ENST00000312431.6_3'UTR Q03001 DYST_HUMAN dystonin 5322 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCTTGAACATGTTAAGCTGCT 0.358000 7 73 0 0 1 0 0 GPR108 56927 broad.mit.edu 37 19 6734257 6734257 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:6734257C>A ENST00000264080.7 - 5 462 c.436G>T c.(436-438)Gaa>Taa p.E146* GPR108_ENST00000430424.4_5'UTR NM_001080452.1 NP_001073921.1 Q9NPR9 GP108_HUMAN G protein-coupled receptor 108 146 integral to membrane breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 GAGGGTGCTTCCGGGAGGAGC 0.657000 OREG0025092 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 33 7.21436e-19 9.08015e-19 1 1 0 COL7A1 1294 broad.mit.edu 37 3 48605585 48605585 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:48605585C>A ENST00000328333.8 - 105 7920 c.7813G>T c.(7813-7815)Gga>Tga p.G2605* COL7A1_ENST00000454817.1_Nonsense_Mutation_p.G2573* NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2605 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CCAGGCACTCCATCCTTTCCT 0.537000 12 28 4.3838e-07 4.76749e-07 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1253769 1253769 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:1253769C>T ENST00000447027.1 + 16 2000 c.1942C>T c.(1942-1944)Cac>Tac p.H648Y MUC5B_ENST00000529681.1_Missense_Mutation_p.H645Y Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 645 cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CAAGCCCTTCCACTCGGTGAG 0.682000 4 2 0 0 1 0 0 MLLT4 4301 broad.mit.edu 37 6 168265306 168265306 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:168265306C>T ENST00000366806.2 + 2 323 c.181C>T c.(181-183)Cgg>Tgg p.R61W MLLT4_ENST00000447894.2_Missense_Mutation_p.R61W|MLLT4_ENST00000344191.4_Missense_Mutation_p.R61W|MLLT4_ENST00000400822.3_Missense_Mutation_p.R61W|MLLT4_ENST00000392108.3_Missense_Mutation_p.R61W|MLLT4_ENST00000392112.1_Missense_Mutation_p.R61W|MLLT4_ENST00000351017.4_Missense_Mutation_p.R61W P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 61 Ras-associating 1. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) AAAATGTATTCGGGTCTCTAG 0.398000 T MLL AL 95 292 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48605584 48605584 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:48605584C>A ENST00000328333.8 - 105 7921 c.7814G>T c.(7813-7815)gGa>gTa p.G2605V COL7A1_ENST00000454817.1_Missense_Mutation_p.G2573V NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2605 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ACCAGGCACTCCATCCTTTCC 0.532000 13 29 7.93312e-07 8.51644e-07 1 1 0 RNF128 79589 broad.mit.edu 37 X 105937453 105937453 + Missense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:105937453A>T ENST00000324342.3 + 1 386 c.221A>T c.(220-222)aAc>aTc p.N74I NM_024539.3 NP_078815.3 Q8TEB7 RN128_HUMAN ring finger protein 128, E3 ubiquitin protein ligase 91 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1) 11 AAGAACAATAACTACCAAGCT 0.403000 31 24 0 0 1 0 0 GRTP1 79774 broad.mit.edu 37 13 113999189 113999189 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr13:113999189C>T ENST00000375430.4 - 5 597 c.551G>A c.(550-552)aGa>aAa p.R184K GRTP1_ENST00000326039.3_Missense_Mutation_p.R106K|GRTP1_ENST00000375431.4_Missense_Mutation_p.R184K Q5TC63 GRTP1_HUMAN growth hormone regulated TBC protein 1 184 Rab-GAP TBC. intracellular Rab GTPase activator activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1) 14 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) TGGTAGTATTCTTCCAACAAG 0.343000 12 156 0 0 1 0 0 GSAP 54103 broad.mit.edu 37 7 76950654 76950654 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:76950654G>A ENST00000257626.7 - 25 2068 c.1990C>T c.(1990-1992)Cac>Tac p.H664Y GSAP_ENST00000440473.1_5'UTR|GSAP_ENST00000441833.2_Intron NM_017439.3 NP_059135.2 gamma-secretase activating protein GCGTACAAGTGGAGAACCCAG 0.408000 21 40 0 0 1 0 0 AJUBA 84962 broad.mit.edu 37 14 23447577 23447577 + Nonsense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr14:23447577G>A ENST00000262713.2 - 2 1459 c.1084C>T c.(1084-1086)Cag>Tag p.Q362* RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.Q362* NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 362 LIM zinc-binding 1. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding ACAAAGCACTGGGTGTGGTAG 0.532000 73 45 0 0 1 0 0 HNRNPU 3192 broad.mit.edu 37 1 245021350 245021350 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:245021350C>T ENST00000444376.2 - 7 1634 c.1400G>A c.(1399-1401)aGa>aAa p.R467K HNRNPU_ENST00000283179.9_Missense_Mutation_p.R486K NM_004501.3|NM_031844.2 NP_004492.2|NP_114032.2 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) 486 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) CTTTGGTCCTCTAACTCGATC 0.383000 35 38 0 0 1 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88886175 88886175 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:88886175G>T ENST00000319675.3 - 1 121 c.25C>A c.(25-27)Ctc>Atc p.L9I NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 9 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 GCTTCCTCGAGCAGTCGCGGT 0.512000 22 47 8.10497e-08 8.86387e-08 1 1 0 COL4A2 1284 broad.mit.edu 37 13 111156284 111156284 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr13:111156284G>A ENST00000360467.5 + 44 4535 c.4229G>A c.(4228-4230)cGa>cAa p.R1410Q COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1410 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CAGGGGAGGCGAGGCCCCCCT 0.731000 10 36 0 0 1 0 0 FBLN2 2199 broad.mit.edu 37 3 13670697 13670697 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:13670697G>T ENST00000404922.3 + 13 2866 c.2747G>T c.(2746-2748)tGc>tTc p.C916F FBLN2_ENST00000295760.7_Missense_Mutation_p.C869F|FBLN2_ENST00000535798.1_Missense_Mutation_p.C895F|FBLN2_ENST00000492059.1_Missense_Mutation_p.C916F NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 912 EGF-like 7; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent p.C916F(1)|p.C335F(1) haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GTGCACCGCTGCGGTGAGGGC 0.652000 7 11 1.12685e-05 1.19218e-05 1 1 0 TTC21A 199223 broad.mit.edu 37 3 39159567 39159567 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:39159567G>C ENST00000301819.6 + 7 901 c.724G>C c.(724-726)Gaa>Caa p.E242Q TTC21A_ENST00000440121.1_Missense_Mutation_p.E201Q|TTC21A_ENST00000431162.2_Missense_Mutation_p.E242Q NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 242 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CAGAATCCTAGAAAAAGATGA 0.418000 45 45 0 0 1 0 0 POM121 9883 broad.mit.edu 37 7 72413258 72413258 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:72413258C>T ENST00000395270.1 + 14 2972 c.1931C>T c.(1930-1932)aCg>aTg p.T644M POM121_ENST00000358357.3_Missense_Mutation_p.T644M|POM121_ENST00000257622.4_Missense_Mutation_p.T644M|POM121_ENST00000446813.1_Missense_Mutation_p.T644M|POM121_ENST00000434423.2_Missense_Mutation_p.T909M NM_001257190.1 NP_001244119.1 Q96HA1 P121A_HUMAN POM121 transmembrane nucleoporin 909 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Lung NSC(55;0.163) GCCGTGCCAACGGCCACCAGC 0.632000 49 178 0 0 1 0 0 OR4S2 219431 broad.mit.edu 37 11 55418380 55418380 + Splice_Site SNP A A T rs150128867 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:55418380A>T ENST00000312422.2 + 1 1 c.0_splice c.e1-1 p.M1_splice NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) GACCCATTCCATGGAAAAAAT 0.328000 33 83 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23808708 23808708 + Missense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:23808708A>T ENST00000354639.3 + 12 1906 c.1442A>T c.(1441-1443)gAt>gTt p.D481V STK31_ENST00000428484.1_Missense_Mutation_p.D481V|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.D504V|STK31_ENST00000355870.3_Missense_Mutation_p.D504V NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 504 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TGGAAGTGTGATAAAAGAGAG 0.393000 49 115 0 0 1 0 0 RMDN2 151393 broad.mit.edu 37 2 38231329 38231329 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:38231329G>A ENST00000407257.1 + 10 1830 c.1683G>A c.(1681-1683)ttG>ttA p.561_561insL RMDN2_ENST00000417700.2_Silent_p.L238L|RMDN2-AS1_ENST00000414365.2_RNA|RMDN2_ENST00000354545.2_Silent_p.L383L|RMDN2_ENST00000406384.1_Silent_p.L383L|RMDN2_ENST00000234195.3_Silent_p.L561L|RMDN2_ENST00000469469.1_3'UTR regulator of microtubule dynamics 2 TCTGTAATTTGGCTTTATTGC 0.353000 29 74 0 0 1 0 0 PRPF18 8559 broad.mit.edu 37 10 13642274 13642274 + Silent SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:13642274T>C ENST00000378572.3 + 3 335 c.175T>C c.(175-177)Tta>Cta p.L59L NM_003675.3 NP_003666.1 Q99633 PRP18_HUMAN pre-mRNA processing factor 18 59 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 CCAGAAACCATTAACTTCATC 0.338000 34 70 0 0 1 0 0 GABRG1 2565 broad.mit.edu 37 4 46060249 46060249 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:46060249C>A ENST00000295452.4 - 7 1068 c.901G>T c.(901-903)Gca>Tca p.A301S NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 301 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) GATGTTCTTGCAGGCACTGCA 0.333000 23 30 8.58068e-18 1.07304e-17 1 1 0 POTED 317754 broad.mit.edu 37 21 15011857 15011857 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr21:15011857G>T ENST00000299443.5 + 10 1483 c.1431G>T c.(1429-1431)cgG>cgT p.R477R NM_174981.3|NM_207355.2 NP_778146.2|NP_997238.2 Q86YR6 POTED_HUMAN POTE ankyrin domain family, member D 477 plasma membrane central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 ATGATACCCGGAAACAACTTT 0.363000 5 88 0.014758 0.014937 1 1 0 SLC15A1 6564 broad.mit.edu 37 13 99337073 99337073 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr13:99337073T>A ENST00000376503.5 - 23 2087 c.2032A>T c.(2032-2034)Atc>Ttc p.I678F NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 678 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) TGAGCTTCGATCTCCGCTGGG 0.438000 32 67 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971036 21971036 + Missense_Mutation SNP C C A rs121913381 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:21971036C>A ENST00000579755.1 - 2 657 c.365G>T c.(364-366)cGa>cTa p.R122L CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 138 G -> R (in CMM2).|G -> S (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCCAGGCATCGCGCACGTCC 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 11 10 1.08611e-07 1.18558e-07 1 1 0 ZNF235 9310 broad.mit.edu 37 19 44792214 44792214 + Silent SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:44792214T>A ENST00000291182.4 - 5 1476 c.1374A>T c.(1372-1374)ccA>ccT p.P458P ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 458 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) CACATTTGTATGGTTTTTCTT 0.383000 42 120 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138312990 138312990 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:138312990C>T ENST00000421622.1 - 7 830 c.622G>A c.(622-624)Ggg>Agg p.G208R SVOPL_ENST00000436657.1_Missense_Mutation_p.G176R|SVOPL_ENST00000288513.5_Missense_Mutation_p.G176R|SVOPL_ENST00000419765.3_Missense_Mutation_p.G328R Q8N434 SVOPL_HUMAN SVOP-like 328 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 TGGCTCTCCCCTGAGTCCCCC 0.567000 16 46 0 0 1 0 0 IQCA1 79781 broad.mit.edu 37 2 237396694 237396694 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:237396694C>A ENST00000409907.3 - 4 871 c.597G>T c.(595-597)atG>atT p.M199I IQCA1_ENST00000309507.5_Missense_Mutation_p.M195I|IQCA1_ENST00000431676.2_Missense_Mutation_p.M199I Q86XH1 IQCA1_HUMAN IQ motif containing with AAA domain 1 199 M -> I (in Ref. 3; BAB70798). ATP binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1) 26 TCTTGCCAAGCATCTTGGATT 0.478000 3 17 6.4e-05 6.69821e-05 1 1 0 PTPRS 5802 broad.mit.edu 37 19 5274329 5274329 + Missense_Mutation SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:5274329T>C ENST00000372412.4 - 3 351 c.118A>G c.(118-120)Aag>Gag p.K40E PTPRS_ENST00000587303.1_Missense_Mutation_p.K40E|PTPRS_ENST00000357368.4_Missense_Mutation_p.K40E|PTPRS_ENST00000353284.2_Missense_Mutation_p.K40E|PTPRS_ENST00000348075.2_Missense_Mutation_p.K40E|PTPRS_ENST00000592099.1_Missense_Mutation_p.K40E|PTPRS_ENST00000262963.6_Missense_Mutation_p.K40E|PTPRS_ENST00000590509.1_Missense_Mutation_p.K40E|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.K40E Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 40 Ig-like C2-type 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) ATCTGGTCCTTGGGTTCTTTG 0.597000 12 30 0 0 1 0 0 PRDM13 59336 broad.mit.edu 37 6 100056662 100056662 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:100056662C>T ENST00000369214.1 + 2 481 c.220C>T c.(220-222)Cct>Tct p.P74S PRDM13_ENST00000369215.4_Missense_Mutation_p.P64S NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 64 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) GGGGGGCTCCCCTCTGGAGTG 0.617000 14 24 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155223 22155223 + Silent SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:22155223T>C ENST00000397126.4 - 4 2761 c.2613A>G c.(2611-2613)aaA>aaG p.K871K ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 p.K771K(2)|p.K871K(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TTGAGGGCCATTTATAGGCTT 0.373000 5 110 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64483263 64483263 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr14:64483263C>G ENST00000358025.3 + 33 5031 c.4801C>G c.(4801-4803)Cta>Gta p.L1601V SYNE2_ENST00000344113.4_Missense_Mutation_p.L1601V|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1601V NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 1601 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) CTGCAAAAATCTACAATTTTA 0.279000 11 91 0 0 1 0 0 SYNJ1 8867 broad.mit.edu 37 21 34060668 34060668 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr21:34060668G>T ENST00000382499.2 - 7 915 c.916C>A c.(916-918)Cat>Aat p.H306N SYNJ1_ENST00000433931.2_Missense_Mutation_p.H306N|SYNJ1_ENST00000357345.3_Missense_Mutation_p.H267N|SYNJ1_ENST00000382491.3_Missense_Mutation_p.H267N|SYNJ1_ENST00000322229.7_Missense_Mutation_p.H267N NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 267 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 CGGACACGATGAGATCCCACC 0.343000 4 52 0.00909568 0.00923805 1 1 0 FAM98A 25940 broad.mit.edu 37 2 33817226 33817226 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:33817226C>T ENST00000403368.1 - 3 327 c.258G>A c.(256-258)atG>atA p.M86I FAM98A_ENST00000498340.1_5'UTR|FAM98A_ENST00000238823.8_Missense_Mutation_p.M86I|FAM98A_ENST00000441530.2_5'UTR NM_015475.3 NP_056290.3 Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 86 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) ACGGGCAGTTCATCTCCCCTA 0.418000 29 186 0 0 1 0 0 NOV 4856 broad.mit.edu 37 8 120431405 120431405 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:120431405C>G ENST00000259526.3 + 4 824 c.597C>G c.(595-597)gtC>gtG p.V199V NM_002514.3 NP_002505.1 P48745 NOV_HUMAN nephroblastoma overexpressed 199 regulation of cell growth growth factor activity|insulin-like growth factor binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3) 21 all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.000507) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GAGTAGAAGTCTCTGACTCAA 0.478000 66 59 0 0 1 0 0 LRFN4 78999 broad.mit.edu 37 11 66626550 66626550 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:66626550G>C ENST00000309602.4 + 1 1578 c.1335G>C c.(1333-1335)gaG>gaC p.E445D PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393958.2_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 445 Fibronectin type-III. integral to membrane breast(1)|lung(1)|prostate(1) 3 GCGAAGATGAGACCCTCATCT 0.662000 14 56 0 0 1 0 0 PCNXL3 399909 broad.mit.edu 37 11 65390996 65390996 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:65390996G>T ENST00000355703.3 + 12 2931 c.2392G>T c.(2392-2394)Ggc>Tgc p.G798C NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 798 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 CTTCGGCGTGGGCCTGAGCAG 0.627000 10 24 1.76689e-08 1.95429e-08 1 1 0 ODF2 4957 broad.mit.edu 37 9 131233613 131233613 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:131233613G>C ENST00000303890.5 + 8 960 c.375G>C c.(373-375)caG>caC p.Q125H ODF2_ENST00000372807.5_Missense_Mutation_p.Q144H|ODF2_ENST00000448249.3_Missense_Mutation_p.Q68H|ODF2_ENST00000444119.2_Missense_Mutation_p.Q125H|ODF2_ENST00000372796.4_Missense_Mutation_p.Q149H|ODF2_ENST00000372814.3_Missense_Mutation_p.Q193H|ODF2_ENST00000372791.3_Missense_Mutation_p.Q130H|ODF2_ENST00000434106.2_Missense_Mutation_p.Q149H|ODF2_ENST00000351030.3_Missense_Mutation_p.Q144H|ODF2_ENST00000393533.2_Missense_Mutation_p.Q149H|ODF2_ENST00000535026.1_Intron|RP11-339B21.9_ENST00000420801.1_RNA|ODF2_ENST00000546203.1_Missense_Mutation_p.Q130H NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 149 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 GTGAGCGCCAGATGGCCAAAA 0.577000 4 73 0 0 1 0 0 GPR12 2835 broad.mit.edu 37 13 27333516 27333516 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr13:27333516G>A ENST00000405846.3 - 2 670 c.449C>T c.(448-450)tCg>tTg p.S150L GPR12_ENST00000381436.2_Missense_Mutation_p.S150L NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 150 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) CGTCCTCTCCGAATGGTACGT 0.577000 17 17 0 0 1 0 0 PEX19 5824 broad.mit.edu 37 1 160249959 160249959 + Silent SNP G G A rs140105219 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:160249959G>A ENST00000368072.5 - 6 693 c.672C>T c.(670-672)gtC>gtT p.V224V PEX19_ENST00000440949.3_Silent_p.V134V|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Silent_p.V77V NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TTTTGCACATGACGCTGTGCT 0.473000 49 224 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105451293 105451293 + Missense_Mutation SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:105451293T>C ENST00000337685.2 + 5 2653 c.1868T>C c.(1867-1869)aTa>aCa p.I623T MUM1L1_ENST00000357175.2_Missense_Mutation_p.I623T|MUM1L1_ENST00000372552.1_Missense_Mutation_p.I623T NM_152423.4 NP_689636.3 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 623 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATAGATCAAATAATGCCAACT 0.323000 11 6 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196342281 196342281 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:196342281G>A ENST00000367433.5 - 14 1493 c.1392C>T c.(1390-1392)acC>acT p.T464T KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.T464T|KCNT2_ENST00000451324.2_Silent_p.T75T|KCNT2_ENST00000294725.8_Silent_p.T464T Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 464 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 GCCCTCTAGAGGTATGAACCA 0.313000 34 97 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2376014 2376014 + Nonsense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:2376014G>A ENST00000301732.5 - 5 1016 c.316C>T c.(316-318)Cga>Tga p.R106* ABCA3_ENST00000382381.3_Nonsense_Mutation_p.R106*|ABCA3_ENST00000567910.1_Nonsense_Mutation_p.R106* NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 106 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) GTCTCACCTCGCATGTTGATC 0.642000 12 35 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167097365 167097365 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:167097365C>A ENST00000361200.2 + 6 3163 c.2997C>A c.(2995-2997)aaC>aaA p.N999K DUSP27_ENST00000443333.1_Missense_Mutation_p.N999K|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.N999K Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 999 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 CAAATGGCAACTCTGTAAGAA 0.522000 14 59 3.45872e-05 3.6329e-05 1 1 0 WDR70 55100 broad.mit.edu 37 5 37725077 37725077 + Missense_Mutation SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:37725077A>G ENST00000265107.4 + 16 1795 c.1639A>G c.(1639-1641)Aca>Gca p.T547A NM_018034.2 NP_060504.1 Q9NW82 WDR70_HUMAN WD repeat domain 70 547 central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCAACGGAGTACAAGGAAACA 0.478000 60 105 0 0 1 0 0 OR51D1 390038 broad.mit.edu 37 11 4661835 4661835 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:4661835C>T ENST00000357605.2 + 1 891 c.815C>T c.(814-816)tCg>tTg p.S272L NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTGGGCTCTCGGTGGTGCAT 0.552000 38 42 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21689200 21689200 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr20:21689200C>G ENST00000398485.2 + 3 975 c.921C>G c.(919-921)gcC>gcG p.A307A PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.A283A NM_001257096.1|NM_006192.4 NP_001244025.1|NP_006183.2 P15863 PAX1_HUMAN paired box 1 307 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 CTGCAGGGGCCCTGGCTGGGA 0.627000 38 104 0 0 1 0 0 PHYH 5264 broad.mit.edu 37 10 13330428 13330428 + Missense_Mutation SNP C C T rs104894173 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:13330428C>T ENST00000396920.3 - 6 963 c.559G>A c.(559-561)Ggc>Agc p.G187S PHYH_ENST00000263038.4_Missense_Mutation_p.G204S|PHYH_ENST00000396913.2_Missense_Mutation_p.G104S O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 204 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding p.G204S(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) ACCAGACAGCCGTTGTTCCGG 0.627000 12 37 0 0 1 0 0 HRH2 3274 broad.mit.edu 37 5 175111013 175111013 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:175111013G>T ENST00000231683.2 + 1 2550 c.777G>T c.(775-777)ctG>ctT p.L259L HRH2_ENST00000377291.2_Silent_p.L259L NM_022304.2 NP_071640.1 P25021 HRH2_HUMAN histamine receptor H2 259 G-protein signaling, coupled to cyclic nucleotide second messenger|immune response integral to plasma membrane histamine receptor activity breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1) 22 all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149) Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863) ACCGTGGGCTGAGAGGGGATG 0.567000 4 56 0.150653 0.150653 1 1 0 SLC14A2 8170 broad.mit.edu 37 18 43216994 43216994 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:43216994G>T ENST00000255226.6 + 6 1506 c.690G>T c.(688-690)aaG>aaT p.K230N SLC14A2_ENST00000586448.1_Missense_Mutation_p.K230N NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 230 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TCTTCAGCAAGTGGGACCTCC 0.507000 120 157 5.16181e-52 7.16032e-52 1 1 0 PDE1B 5153 broad.mit.edu 37 12 54966391 54966391 + Missense_Mutation SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:54966391A>G ENST00000243052.3 + 7 1037 c.601A>G c.(601-603)Act>Gct p.T201A PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.T181A|PDE1B_ENST00000538346.1_Missense_Mutation_p.T160A NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 201 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 GCAGATTCCCACTGTGTTTTT 0.478000 357 536 0 0 1 0 0 TRIL 9865 broad.mit.edu 37 7 28997171 28997171 + RNA SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:28997171C>A ENST00000322982.3 - 0 763 Q7L0X0 TRIL_HUMAN TLR4 interactor with leucine-rich repeats inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway lipopolysaccharide receptor complex lipopolysaccharide binding CCAGGGCGTTCCCGTCCAGCC 0.647000 13 17 1.5842e-08 1.75888e-08 1 1 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:37868208C>T ENST00000406381.2 + 10 1349 c.839C>T c.(838-840)tCc>tTc p.S280F ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000269571.5_Missense_Mutation_p.S310F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F NM_001005862.1 NP_001005862.1 P04626 ERBB2_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 310 cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(6)|p.S310Y(1) NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4) 247 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582000 1 """A, Mis, O""" """breast, ovarian, other tumour types, NSCLC, gastric""" TCGA GBM(5;<1E-08) 79 162 0 0 1 0 0 MLXIP 22877 broad.mit.edu 37 12 122620140 122620140 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:122620140G>T ENST00000319080.6 + 11 2091 c.1959G>T c.(1957-1959)gcG>gcT p.A653A MLXIP_ENST00000538698.1_Silent_p.A260A Q9HAP2 MLXIP_HUMAN MLX interacting protein 653 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial outer membrane|nucleus DNA binding NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3) 20 all_neural(191;0.0837)|Medulloblastoma(191;0.163) Lung NSC(355;0.0659) OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233) CAAGCACAGCGCAAGACCCCC 0.682000 3 8 0.004672 0.00477001 1 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5146554 5146554 + Missense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:5146554A>T ENST00000274181.7 + 3 625 c.487A>T c.(487-489)Acc>Tcc p.T163S ADAMTS16_ENST00000511368.1_Missense_Mutation_p.T163S|CTD-2297D10.1_ENST00000514848.1_RNA NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 163 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GGCCCTTTCAACCTGCCAAGG 0.532000 43 98 0 0 1 0 0 MPP2 4355 broad.mit.edu 37 17 41975712 41975712 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:41975712G>A ENST00000269095.4 - 3 372 c.68C>T c.(67-69)cCc>cTc p.P23L MPP2_ENST00000377184.3_Missense_Mutation_p.P40L|MPP2_ENST00000536246.1_Missense_Mutation_p.P12L|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000523501.1_Missense_Mutation_p.P12L|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000461854.1_Missense_Mutation_p.P23L|MPP2_ENST00000518766.1_Missense_Mutation_p.P68L NM_001278370.1|NM_001278381.1|NM_005374.3 NP_001265299.1|NP_001265310.1|NP_005365.3 Q14168 MPP2_HUMAN membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2) 23 L27 1. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) CGTGGCACTGGGGAGGGATCC 0.567000 11 25 0 0 1 0 0 SLC15A3 51296 broad.mit.edu 37 11 60714105 60714105 + Silent SNP G G A rs144860400 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:60714105G>A ENST00000227880.3 - 2 980 c.747C>T c.(745-747)ccC>ccT p.P249P NM_016582.2 NP_057666.1 Q8IY34 S15A3_HUMAN solute carrier family 15 (oligopeptide transporter), member 3 249 oligopeptide transport|protein transport integral to membrane|lysosomal membrane peptide:hydrogen symporter activity central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2) 17 TGATGAAGACGGGGGTGGCAA 0.572000 28 56 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034669 52034669 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:52034669G>T ENST00000346477.3 - 2 240 c.172C>A c.(172-174)Cca>Aca p.P58T SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P58T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P58T|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P58T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P58T NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 58 Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) TACGAGGCTGGAAGGGTAGTG 0.607000 16 41 7.07596e-05 7.39242e-05 1 1 0 CD163 9332 broad.mit.edu 37 12 7653818 7653818 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:7653818G>A ENST00000359156.4 - 3 576 c.374C>T c.(373-375)tCa>tTa p.S125L CD163_ENST00000432237.2_Missense_Mutation_p.S125L|CD163_ENST00000541972.1_Missense_Mutation_p.S113L|CD163_ENST00000396620.3_Missense_Mutation_p.S125L NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 125 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 CCAAAGAGCTGACTCATTCCC 0.478000 96 128 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18967087 18967087 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:18967087C>T ENST00000262803.5 + 13 2074 c.1802C>T c.(1801-1803)aCc>aTc p.T601I UPF1_ENST00000599848.1_Missense_Mutation_p.T612I NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 612 cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 TTGAAGCGCACCGCAGAGAGA 0.602000 19 42 0 0 1 0 0 LRFN3 79414 broad.mit.edu 37 19 36431274 36431274 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:36431274G>A ENST00000588831.1 + 3 2001 c.947G>A c.(946-948)cGc>cAc p.R316H LRFN3_ENST00000246529.3_Missense_Mutation_p.R316H Q9BTN0 LRFN3_HUMAN leucine rich repeat and fibronectin type III domain containing 3 316 Ig-like. cell adhesion axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 12 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GCTGCCCTGCGCTGCCGGGCA 0.716000 3 11 0 0 1 0 0 LEKR1 389170 broad.mit.edu 37 3 156763172 156763172 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:156763172G>T ENST00000470811.1 + 14 2135 c.800G>T c.(799-801)cGc>cTc p.R267L LEKR1_ENST00000356539.4_Missense_Mutation_p.R571L D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 82 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TGTGAAGAACGCTTTGAACTG 0.438000 28 55 4.22769e-11 4.87939e-11 1 1 0 ATG4C 84938 broad.mit.edu 37 1 63282341 63282341 + Nonsense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:63282341A>T ENST00000317868.4 + 4 463 c.256A>T c.(256-258)Aga>Tga p.R86* ATG4C_ENST00000371120.3_Nonsense_Mutation_p.R86* NM_032852.3 NP_116241.2 Q96DT6 ATG4C_HUMAN autophagy related 4C, cysteine peptidase 86 autophagic vacuole assembly|protein targeting to membrane|proteolysis cytosol|extracellular region cysteine-type endopeptidase activity ATG4C/FBXO38(2) NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(3)|ovary(1)|prostate(2) 19 TTTCATTTCTAGAATATGGCT 0.423000 14 28 0 0 1 0 0 GTF3C6 112495 broad.mit.edu 37 6 111283710 111283710 + Splice_Site SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:111283710T>C ENST00000329970.7 + 5 571 c.e5+2 GTF3C6_ENST00000480191.1_Splice_Site NM_138408.3 NP_612417.1 Q969F1 TF3C6_HUMAN general transcription factor IIIC, polypeptide 6, alpha 35kDa transcription factor TFIIIC complex DNA binding|protein binding NS(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575) OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186) AAAACATAGGTTAGTTCCATT 0.353000 14 31 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70900122 70900122 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:70900122G>T ENST00000355733.3 - 16 2288 c.1844C>A c.(1843-1845)cCc>cAc p.P615H ADD2_ENST00000264436.3_Silent_p.A586A|ADD2_ENST00000407644.2_Silent_p.A586A NM_017488.3 NP_059522.1 P35612 ADDB_HUMAN adducin 2 (beta) 0 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 GCTCTTCTGGGGCAGTTTCTT 0.468000 13 28 0.00136819 0.00139934 1 1 0 CHRNA10 57053 broad.mit.edu 37 11 3692601 3692601 + Translation_Start_Site SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:3692601C>A ENST00000250699.2 - 0 13 NM_020402.2 NP_065135.2 Q9GZZ6 ACH10_HUMAN cholinergic receptor, nicotinic, alpha 10 (neuronal) elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic cell junction|postsynaptic membrane calcium channel activity|receptor activity|receptor binding breast(1)|endometrium(2)|lung(3)|ovary(1) 7 Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577) BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192) Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116) CTGGCCAGACCTAGGGCAAAA 0.617000 4 0 0.150653 0.150653 1 1 0 RECQL5 9400 broad.mit.edu 37 17 73625553 73625553 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:73625553G>C ENST00000317905.5 - 16 2109 c.1950C>G c.(1948-1950)ctC>ctG p.L650L RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Silent_p.L623L NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 650 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GCTTGGGTTTGAGCTGTAAAT 0.617000 Other identified genes with known or suspected DNA repair function 9 63 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47589732 47589732 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:47589732C>A ENST00000253048.5 - 6 816 c.779G>T c.(778-780)gGc>gTc p.G260V ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 260 Gly-rich. nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CCTGCCCATGCCGCGGCCTCG 0.647000 24 36 7.87624e-14 9.3872e-14 1 1 0 MYOM3 127294 broad.mit.edu 37 1 24401884 24401884 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:24401884G>A ENST00000330966.7 - 22 2948 c.2786C>T c.(2785-2787)tCa>tTa p.S929L RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.S928L|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.S928L Q5VTT5 MYOM3_HUMAN myomesin 3 928 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CTGAAACTCTGAGGAGTCGGG 0.517000 9 113 0 0 1 0 0 AHCTF1 25909 broad.mit.edu 37 1 247031021 247031021 + Nonsense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:247031021T>A ENST00000366508.1 - 25 3422 c.3286A>T c.(3286-3288)Aaa>Taa p.K1096* AHCTF1_ENST00000326225.3_Nonsense_Mutation_p.K1070*|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Nonsense_Mutation_p.K1061* Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 1061 cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TCTCCAATTTTAGATAACACA 0.358000 30 88 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26985673 26985673 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:26985673G>A ENST00000381340.3 - 1 458 c.42C>T c.(40-42)atC>atT p.I14I ITPR2_ENST00000242737.5_Silent_p.I14I NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 14 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity p.I14M(1) ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ACAGGGACACGATGTCCCCTA 0.622000 11 78 0 0 1 0 0 IRX3 79191 broad.mit.edu 37 16 54319355 54319355 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:54319355G>C ENST00000329734.3 - 2 1150 c.438C>G c.(436-438)ctC>ctG p.L146L NM_024336.2 NP_077312.2 P78415 IRX3_HUMAN iroquois homeobox 3 146 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 14 GGTGCTCGTTGAGCCAGGCCT 0.632000 13 72 0 0 1 0 0 EFCAB7 84455 broad.mit.edu 37 1 63999310 63999310 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:63999310C>G ENST00000371088.4 + 5 918 c.672C>G c.(670-672)ttC>ttG p.F224L NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 224 calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 CAGAAACATTCTTAAATAAAG 0.353000 8 99 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31266543 31266543 + Silent SNP C C T rs34660027 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr22:31266543C>T ENST00000332585.6 + 3 1085 c.981C>T c.(979-981)ggC>ggT p.G327G OSBP2_ENST00000407373.1_Silent_p.G154G|OSBP2_ENST00000382310.3_Silent_p.G327G|OSBP2_ENST00000401475.1_5'UTR|OSBP2_ENST00000446658.2_Silent_p.G327G|OSBP2_ENST00000437268.2_Silent_p.G69G|OSBP2_ENST00000403222.3_Silent_p.G162G NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 327 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 CCAAGCACGGCGCTGCACTCC 0.597000 15 36 0 0 1 0 0 OR8D4 338662 broad.mit.edu 37 11 123777945 123777945 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:123777945C>T ENST00000321355.2 + 1 837 c.807C>T c.(805-807)acC>acT p.T269T NM_001005197.1 NP_001005197.1 Q8NGM9 OR8D4_HUMAN olfactory receptor, family 8, subfamily D, member 4 269 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409) GTTCACTCACCCAGGAGAAAG 0.413000 24 83 0 0 1 0 0 EIF2B4 8890 broad.mit.edu 37 2 27591923 27591923 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:27591923C>A ENST00000493344.2 - 3 743 c.431G>T c.(430-432)gGa>gTa p.G144V EIF2B4_ENST00000451130.2_Missense_Mutation_p.G143V|EIF2B4_ENST00000445933.2_Missense_Mutation_p.G122V|EIF2B4_ENST00000347454.4_Missense_Mutation_p.G123V Q9UI10 EI2BD_HUMAN eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa 123 myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex translation initiation factor activity|translation initiation factor binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGTGGTCCTCCTTGTTCCCC 0.562000 8 128 5.4927e-09 6.15689e-09 1 1 0 CHRM2 1129 broad.mit.edu 37 7 136700236 136700236 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:136700236C>T ENST00000445907.2 + 3 1152 c.624C>T c.(622-624)caC>caT p.H208H CHRM2_ENST00000401861.1_Silent_p.H208H|CHRM2_ENST00000397608.3_Silent_p.H208H|CHRM2_ENST00000320658.5_Silent_p.H208H|CHRM2_ENST00000402486.3_Silent_p.H208H|AC009264.1_ENST00000425981.2_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000453373.1_Silent_p.H208H|AC009264.1_ENST00000598184.1_RNA|AC009264.1_ENST00000592183.1_RNA|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 208 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TATATTGGCACATATCCCGAG 0.468000 17 61 0 0 1 0 0 CDKN2AIP 55602 broad.mit.edu 37 4 184367416 184367416 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:184367416C>A ENST00000504169.1 + 3 786 c.579C>A c.(577-579)agC>agA p.S193R CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR NM_017632.2 NP_060102.1 Q9NXV6 CARF_HUMAN CDKN2A interacting protein 193 Ser-rich. negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability granular component|nucleoplasm double-stranded RNA binding|p53 binding endometrium(1)|kidney(2)|large_intestine(2)|lung(1) 6 all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) CAGCTCGGAGCTCTGGCATCT 0.507000 4 51 0.00024832 0.000257582 1 1 0 ADAM19 8728 broad.mit.edu 37 5 156991418 156991418 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:156991418C>T ENST00000257527.4 - 3 292 c.214G>A c.(214-216)Gag>Aag p.E72K ADAM19_ENST00000517905.1_Missense_Mutation_p.E72K|ADAM19_ENST00000430702.2_5'UTR|ADAM19_ENST00000394020.1_Missense_Mutation_p.E74K NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 72 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TCTCGCCCCTCAGCCATTACC 0.502000 50 53 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236957853 236957853 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:236957853G>T ENST00000409538.1 + 15 3174 c.2678G>T c.(2677-2679)gGg>gTg p.G893V AGAP1_ENST00000304032.7_Missense_Mutation_p.G681V|AGAP1_ENST00000428334.2_Missense_Mutation_p.G520V|AGAP1_ENST00000336665.5_Missense_Mutation_p.G628V Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 681 protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TCATCCATCGGGAACGAGCTA 0.577000 34 76 4.4194e-11 5.09059e-11 1 1 0 FHOD3 80206 broad.mit.edu 37 18 34081964 34081964 + Splice_Site SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:34081964T>A ENST00000257209.4 + 4 527 c.e4+2 FHOD3_ENST00000359247.4_Splice_Site|FHOD3_ENST00000590592.1_Splice_Site|FHOD3_ENST00000445677.1_Splice_Site NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) ATATTTCAGGTAAATAGGAAA 0.333000 10 30 0 0 1 0 0 IRF4 3662 broad.mit.edu 37 6 407582 407582 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:407582C>A ENST00000380956.4 + 9 1466 c.1340C>A c.(1339-1341)tCc>tAc p.S447Y NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 447 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) ATCCGCCATTCCTCTATTCAA 0.383000 T IGH@ MM 19 21 1.40151e-16 1.73041e-16 1 1 0 DLG2 1740 broad.mit.edu 37 11 83770503 83770503 + Silent SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:83770503C>A ENST00000398309.2 - 6 929 c.459G>T c.(457-459)gtG>gtT p.V153V DLG2_ENST00000376104.2_Silent_p.V258V|DLG2_ENST00000531015.1_Silent_p.V120V|DLG2_ENST00000280241.8_Silent_p.V192V|DLG2_ENST00000543673.1_Silent_p.V258V|DLG2_ENST00000398301.2_Silent_p.V192V|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000330014.6_Silent_p.V92V|DLG2_ENST00000532653.1_Silent_p.V153V|DLG2_ENST00000524982.1_Silent_p.V153V|DLG2_ENST00000418306.2_Silent_p.V102V NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 153 PDZ 1. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CAACCTCATTCACCCGCAAGA 0.443000 13 26 5.50884e-06 5.84938e-06 1 1 0 USH2A 7399 broad.mit.edu 37 1 215990530 215990530 + Nonsense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:215990530G>A ENST00000366943.2 - 48 9765 c.9379C>T c.(9379-9381)Caa>Taa p.Q3127* USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q3127* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3127 Fibronectin type-III 18. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAATCAATTTGAAGAGATCTG 0.363000 HNSCC(13;0.011) 6 96 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23871926 23871926 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:23871926G>C ENST00000354639.3 + 24 3396 c.2932G>C c.(2932-2934)Gag>Cag p.E978Q STK31_ENST00000428484.1_Missense_Mutation_p.E978Q|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E978Q|STK31_ENST00000355870.3_Missense_Mutation_p.E1001Q NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 1001 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AATAAAGACGGAGAACTTGGA 0.328000 41 99 0 0 1 0 0 LRCH2 57631 broad.mit.edu 37 X 114357122 114357122 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:114357122G>A ENST00000317135.8 - 20 2176 c.2146C>T c.(2146-2148)Ctt>Ttt p.L716F LRCH2_ENST00000538422.1_Missense_Mutation_p.L699F NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 716 CH. breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 CAAGCATCAAGAAAATTTTCT 0.323000 14 9 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170063179 170063179 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:170063179C>A ENST00000263816.3 - 39 7336 c.7051G>T c.(7051-7053)Ggt>Tgt p.G2351C NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 2351 EGF-like 9. hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GAGCACCCACCATTGTTTTCC 0.498000 27 42 4.22769e-11 4.87939e-11 1 1 0 RPGRIP1L 23322 broad.mit.edu 37 16 53730185 53730185 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:53730185C>T ENST00000262135.4 - 3 201 c.108G>A c.(106-108)atG>atA p.M36I RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.M36I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.M36I NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 36 negative regulation of G-protein coupled receptor protein signaling pathway cell-cell junction|centrosome|cilium axoneme|microtubule basal body thromboxane A2 receptor binding endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2) 46 all_cancers(37;0.0973) GGCGAGACTTCATTGTCCGTG 0.383000 69 170 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96748783 96748783 + Nonstop_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:96748783T>A ENST00000260682.6 + 9 1483 c.1471T>A c.(1471-1473)Tga>Aga p.*491R NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 0 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) CATTCCTGTCTGAAGAAGAGC 0.507000 72 40 0 0 1 0 0 SMAD4 4089 broad.mit.edu 37 18 48573328 48573328 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:48573328G>T ENST00000590722.2 + 3 300 c.196G>T c.(196-198)Gtt>Ttt p.V66F SMAD4_ENST00000398417.2_5'UTR|SMAD4_ENST00000452201.2_5'UTR|RP11-729L2.2_ENST00000588256.1_3'UTR|SMAD4_ENST00000342988.3_5'UTR TCCTTGCAACGTTAGCTGTTG 0.308000 6 9 0.0215528 0.0217389 1 1 0 SLC35C1 55343 broad.mit.edu 37 11 45827727 45827727 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:45827727C>T ENST00000314134.3 + 1 1771 c.375C>T c.(373-375)atC>atT p.I125I SLC35C1_ENST00000442528.2_Silent_p.I112I|SLC35C1_ENST00000456334.1_Silent_p.I112I NM_018389.4 NP_060859.4 Q96A29 FUCT1_HUMAN solute carrier family 35 (GDP-fucose transporter), member C1 125 Golgi membrane|integral to membrane GDP-fucose transmembrane transporter activity endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 GBM - Glioblastoma multiforme(35;0.227) TGGTCTTCATCGGCATGATCA 0.632000 25 63 0 0 1 0 0 DSC2 1824 broad.mit.edu 37 18 28651652 28651652 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:28651652C>G ENST00000280904.6 - 13 2487 c.2044G>C c.(2044-2046)Gat>Cat p.D682H DSC2_ENST00000251081.6_Missense_Mutation_p.D682H NM_024422.3 NP_077740.1 Q02487 DSC2_HUMAN desmocollin 2 682 Cadherin 5. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) ATCCTTGGATCTACACGATGT 0.438000 4 62 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18715688 18715688 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:18715688C>T ENST00000433979.1 + 26 3635 c.3519C>T c.(3517-3519)atC>atT p.I1173I PIK3C2G_ENST00000266497.5_Silent_p.I1173I|PIK3C2G_ENST00000538779.1_Silent_p.I1214I NM_004570.4 NP_004561.3 O75747 P3C2G_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma 1173 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) ATAACTTGATCCACACACTTG 0.393000 9 10 0 0 1 0 0 SRSF2 6427 broad.mit.edu 37 17 74733103 74733103 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:74733103C>A ENST00000392485.2 - 1 312 c.140G>T c.(139-141)cGg>cTg p.R47L RP11-318A15.7_ENST00000587459.1_Intron|SRSF2_ENST00000359995.5_Missense_Mutation_p.R47L|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|SRSF2_ENST00000508921.3_Missense_Mutation_p.R47L|MFSD11_ENST00000588460.1_5'UTR NM_003016.4 NP_003007.2 Q01130 SRSF2_HUMAN serine/arginine-rich splicing factor 2 47 RRM. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding|transcription corepressor activity haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2) 329 GTAGCGGTCCCGCGGGATGTA 0.657000 Mis """MDS, CLL""" 10 41 2.17888e-05 2.29273e-05 1 1 0 CD1C 911 broad.mit.edu 37 1 158262029 158262029 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:158262029G>A ENST00000368170.3 + 3 763 c.484G>A c.(484-486)Gtc>Atc p.V162I NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 162 antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) GGCCCAAAGTGTCTGTCATCT 0.453000 153 184 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151108997 151108997 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:151108997C>A ENST00000341697.3 - 12 2724 c.1033G>T c.(1033-1035)Ggc>Tgc p.G345C Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 345 Sema. integral to membrane receptor activity 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) TTGAACTTGCCCTCAAACCCA 0.557000 48 159 5.78141e-17 7.15327e-17 1 1 0 ALCAM 214 broad.mit.edu 37 3 105264151 105264151 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:105264151G>T ENST00000306107.5 + 9 1576 c.1076G>T c.(1075-1077)aGc>aTc p.S359I ALCAM_ENST00000389927.4_Missense_Mutation_p.S81I|ALCAM_ENST00000481337.1_3'UTR|ALCAM_ENST00000472644.2_Missense_Mutation_p.S359I|ALCAM_ENST00000486979.2_Missense_Mutation_p.S308I NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 359 Ig-like C2-type 2. cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 ATATCTGCTAGCAGGAATGCA 0.383000 23 78 1.64293e-13 1.95015e-13 1 1 0 CCNB3 85417 broad.mit.edu 37 X 50054110 50054110 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:50054110G>A ENST00000376042.1 + 6 3239 c.2941G>A c.(2941-2943)Gcc>Acc p.A981T CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A981T|CCNB3_ENST00000376038.1_Intron Q8WWL7 CCNB3_HUMAN cyclin B3 981 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) GTCTAGCACTGCCCCTGAATC 0.478000 48 30 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124544672 124544672 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:124544672G>T ENST00000408936.3 + 16 3647 c.3465G>T c.(3463-3465)ctG>ctT p.L1155L DAB2IP_ENST00000309989.1_Silent_p.L1031L|DAB2IP_ENST00000259371.2_Silent_p.L1127L Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 1155 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 TGACCCAGCTGAAAGAGAGGT 0.567000 34 92 9.17885e-22 1.19121e-21 1 1 0 DNMT3A 1788 broad.mit.edu 37 2 25467060 25467060 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:25467060G>A ENST00000264709.3 - 15 2152 c.1815C>T c.(1813-1815)ctC>ctT p.L605L DNMT3A_ENST00000321117.5_Silent_p.L605L|DNMT3A_ENST00000380746.4_Silent_p.L416L|DNMT3A_ENST00000402667.1_Silent_p.L382L|DNMT3A_ENST00000474887.1_5'UTR NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 605 ADD. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAACATCTGGAGCCGGGAGG 0.627000 """Mis, F, N, S""" AML 15 40 0 0 1 0 0 SLC22A16 85413 broad.mit.edu 37 6 110778142 110778142 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:110778142C>A ENST00000368919.3 - 2 198 c.132G>T c.(130-132)atG>atT p.M44I SLC22A16_ENST00000456137.2_Missense_Mutation_p.M44I|SLC22A16_ENST00000330550.4_Missense_Mutation_p.M42I|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.M44I NM_033125.3 NP_149116.2 Q86VW1 S22AG_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 16 44 acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) GGGTGACTCCCATGAACACAG 0.473000 38 52 1.07637e-12 1.26224e-12 1 1 0 IL12RB1 3594 broad.mit.edu 37 19 18188356 18188356 + Silent SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:18188356C>A ENST00000600835.1 - 6 822 c.519G>T c.(517-519)cgG>cgT p.R173R IL12RB1_ENST00000430026.2_Silent_p.R173R|IL12RB1_ENST00000322153.6_Silent_p.R173R|IL12RB1_ENST00000593993.1_Silent_p.R173R P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 173 Fibronectin type-III 2. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 GTGTCCGGTGCCGGAACTGCA 0.607000 13 32 0.00010058 0.00010489 1 1 0 ZP2 7783 broad.mit.edu 37 16 21218290 21218290 + Missense_Mutation SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:21218290T>C ENST00000574002.1 - 6 834 c.352A>G c.(352-354)Atc>Gtc p.I118V ZP2_ENST00000574091.1_Missense_Mutation_p.I118V|ZP2_ENST00000219593.4_Missense_Mutation_p.I118V Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 118 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) ATGACTCTGATGGTCATCTGG 0.488000 53 118 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124179974 124179974 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:124179974G>T ENST00000357821.2 - 1 759 c.689C>A c.(688-690)tCc>tAc p.S230Y NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 230 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GCCCTCTGAGGAGCGGATGTG 0.498000 17 25 1.5739e-10 1.79874e-10 1 1 0 NRIP1 8204 broad.mit.edu 37 21 16340481 16340481 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr21:16340481C>T ENST00000400202.1 - 3 745 c.33G>A c.(31-33)gtG>gtA p.V11V NRIP1_ENST00000400199.1_Silent_p.V11V|NRIP1_ENST00000318948.4_Silent_p.V11V P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 11 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) AATCCTGGTGCACATCAGAGC 0.433000 22 58 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9760228 9760228 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:9760228C>G ENST00000383832.3 + 17 1373 c.1183C>G c.(1183-1185)Cgc>Ggc p.R395G CPNE9_ENST00000383831.3_Missense_Mutation_p.R395G NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 395 VWFA. p.R395C(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) CCAGAGCCTGCGCACAGTGCA 0.567000 33 18 0 0 1 0 0 TSPYL5 85453 broad.mit.edu 37 8 98289495 98289495 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:98289495G>A ENST00000322128.3 - 1 681 c.578C>T c.(577-579)tCg>tTg p.S193L NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 193 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) TGGGGGCCCCGACCCTGCATC 0.622000 23 60 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117660597 117660597 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:117660597C>G ENST00000317775.6 - 26 4583 c.3898G>C c.(3898-3900)Gag>Cag p.E1300Q NOS1_ENST00000338101.4_Missense_Mutation_p.E1334Q|NOS1_ENST00000344089.3_3'UTR NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1300 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) TGCAGGGTCTCTTCCCTGTAG 0.582000 14 98 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47951484 47951484 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:47951484C>A ENST00000236877.6 - 4 1740 c.1345G>T c.(1345-1347)Ggc>Tgc p.G449C SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Missense_Mutation_p.G205C NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 449 Calx-beta 1. 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) ACCAGCGTGCCCTCGCTGCGG 0.642000 9 42 9.70103e-10 1.09795e-09 1 1 0 ITGA8 8516 broad.mit.edu 37 10 15655747 15655747 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:15655747C>G ENST00000378076.3 - 15 1818 c.1465G>C c.(1465-1467)Gta>Cta p.V489L NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 489 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TGGGCATCTACAGTCACAACC 0.468000 42 81 0 0 1 0 0 OR4D9 390199 broad.mit.edu 37 11 59282974 59282974 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:59282974C>A ENST00000329328.3 + 1 589 c.589C>A c.(589-591)Ctc>Atc p.L197I NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 CACTCTGGAGCTCCTGATGAT 0.473000 54 112 2.74695e-27 3.6794e-27 1 1 0 WNK4 65266 broad.mit.edu 37 17 40939915 40939915 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:40939915T>A ENST00000246914.5 + 8 1882 c.1861T>A c.(1861-1863)Tcg>Acg p.S621T WNK4_ENST00000587705.1_Intron NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 621 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CTGCCTGCCCTCGGTGAGAGG 0.627000 28 54 0 0 1 0 0 ARHGAP22 58504 broad.mit.edu 37 10 49812818 49812818 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:49812818C>A ENST00000249601.4 - 1 320 c.24G>T c.(22-24)caG>caT p.Q8H ARHGAP22_ENST00000435790.2_Intron|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.Q8H|ARHGAP22_ENST00000491108.1_5'UTR NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 8 angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 CCCTCCTGGCCTGCCTGATCT 0.612000 18 43 2.94398e-08 3.23174e-08 1 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140723758 140723758 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:140723758G>T ENST00000253812.6 + 1 158 c.158G>T c.(157-159)gGg>gTg p.G53V PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018916.3|NM_032011.1 NP_061739.2|NP_114400.1 breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACGACCTGGGGCTAGAGCCC 0.607000 OREG0016855 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 66 5.98616e-33 8.18716e-33 1 1 0 SCN9A 6335 broad.mit.edu 37 2 167163022 167163022 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:167163022G>A ENST00000375387.4 - 4 808 c.468C>T c.(466-468)gtC>gtT p.V156V SCN9A_ENST00000409672.1_Silent_p.V155V|SCN9A_ENST00000409435.1_Silent_p.V155V|SCN9A_ENST00000303354.6_Silent_p.V156V Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 155 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CCACTTACTCGACATTTTTGG 0.373000 6 8 0 0 1 0 0 ZNF106 64397 broad.mit.edu 37 15 42743476 42743476 + Missense_Mutation SNP C C G rs148277728 byFrequency TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:42743476C>G ENST00000263805.4 - 2 1251 c.925G>C c.(925-927)Gaa>Caa p.E309Q ZNF106_ENST00000565611.1_Intron|ZNF106_ENST00000565380.1_Intron NM_022473.1 NP_071918.1 zinc finger protein 106 AGTAAGCCTTCTGAAGGAAAT 0.428000 9 119 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171452730 171452730 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:171452730C>A ENST00000356327.5 - 5 535 c.465G>T c.(463-465)gaG>gaT p.E155D PLD1_ENST00000340989.4_Missense_Mutation_p.E155D|PLD1_ENST00000351298.4_Missense_Mutation_p.E155D|PLD1_ENST00000342215.6_Missense_Mutation_p.E155D NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 155 PX. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CTCGAGGCTCCTCTCTGACGT 0.403000 75 137 9.59377e-39 1.32453e-38 1 1 0 LAMA4 3910 broad.mit.edu 37 6 112480014 112480014 + Silent SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:112480014T>A ENST00000230538.7 - 14 2134 c.1737A>T c.(1735-1737)ctA>ctT p.L579L LAMA4_ENST00000522006.1_Silent_p.L572L|LAMA4_ENST00000389463.4_Silent_p.L572L|LAMA4_ENST00000424408.2_Silent_p.L572L|RP1-142L7.5_ENST00000585373.1_RNA NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 579 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TGAGGTTACTTAGGTTAGATA 0.343000 24 87 0 0 1 0 0 MAPK1 5594 broad.mit.edu 37 22 22127164 22127164 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr22:22127164C>T ENST00000215832.6 - 7 1152 c.964G>A c.(964-966)Gag>Aag p.E322K MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K NM_002745.4 NP_002736.3 P28482 MK01_HUMAN mitogen-activated protein kinase 1 322 activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity p.E322K(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) GCTCTTACCTCGTCACTCGGG 0.478000 4 71 0 0 1 0 0 PUS7L 83448 broad.mit.edu 37 12 44148735 44148735 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:44148735G>A ENST00000416848.2 - 2 802 c.314C>T c.(313-315)tCa>tTa p.S105L PUS7L_ENST00000551923.1_Missense_Mutation_p.S105L|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.S105L|PUS7L_ENST00000553166.1_Missense_Mutation_p.S105L NM_001098615.1|NM_001271826.1 NP_001092085.1|NP_001258755.1 Q9H0K6 PUS7L_HUMAN pseudouridylate synthase 7 homolog (S. cerevisiae)-like 105 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(12;0.00027) Lung NSC(34;0.114)|all_lung(34;0.24) GBM - Glioblastoma multiforme(48;0.0402) TTCCTTTTCTGAACCAGACTG 0.343000 4 118 0 0 1 0 0 SLA 6503 broad.mit.edu 37 8 134072415 134072415 + Silent SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:134072415T>C ENST00000395352.3 - 2 390 c.42A>G c.(40-42)aaA>aaG p.K14K SLA_ENST00000518565.1_5'UTR|SLA_ENST00000524345.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000517648.1_Silent_p.K14K|SLA_ENST00000427060.2_Silent_p.K37K|SLA_ENST00000338087.5_5'UTR|TG_ENST00000519543.1_Intron|TG_ENST00000220616.4_Intron|TG_ENST00000542445.1_Intron NM_001045557.2 NP_001039022.2 Q13239 SLAP1_HUMAN Src-like-adaptor 0 endosome SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1) 17 all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037) BRCA - Breast invasive adenocarcinoma(115;0.000701) TTTCTTTCTTTTTCCCTGGGG 0.582000 22 63 0 0 1 0 0 P2RY1 5028 broad.mit.edu 37 3 152554073 152554073 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:152554073G>A ENST00000305097.3 + 1 1338 c.502G>A c.(502-504)Gcg>Acg p.A168T NM_002563.3 NP_002554.1 P47900 P2RY1_HUMAN purinergic receptor P2Y, G-protein coupled, 1 168 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) AAAGAAGAATGCGATCTGTAT 0.552000 31 51 0 0 1 0 0 OBFC1 79991 broad.mit.edu 37 10 105658669 105658669 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:105658669G>A ENST00000224950.3 - 6 714 c.547C>T c.(547-549)Cac>Tac p.H183Y OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.H183Y NM_024928.4 NP_079204.2 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold containing 1 183 positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding large_intestine(3)|lung(7)|ovary(1)|pancreas(2) 13 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) GCTGAGCTGTGAAAAGGCTGG 0.478000 35 56 0 0 1 0 0 ENOX1 55068 broad.mit.edu 37 13 43839571 43839571 + Nonsense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr13:43839571A>T ENST00000261488.6 - 14 2151 c.1574T>A c.(1573-1575)tTg>tAg p.L525* ENOX1_ENST00000412891.1_Nonsense_Mutation_p.L525* NM_001242863.1|NM_017993.3 NP_001229792.1|NP_060463.2 Q8TC92 ENOX1_HUMAN ecto-NOX disulfide-thiol exchanger 1 525 electron transport chain|rhythmic process|transport extracellular space|plasma membrane nucleic acid binding|nucleotide binding|oxidoreductase activity breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1) 34 Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406) GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172) GGTCTCGACCAATTCCTTGGT 0.368000 67 118 0 0 1 0 0 MPHOSPH8 54737 broad.mit.edu 37 13 20221135 20221135 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr13:20221135C>A ENST00000361479.5 + 3 990 c.922C>A c.(922-924)Cat>Aat p.H308N MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.H308N NM_017520.3 NP_059990.2 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 308 cell cycle cytoplasm|nucleus breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) GGGGCTGGAGCATGGCTTTGA 0.527000 28 36 1.17739e-12 1.37795e-12 1 1 0 EPB41L5 57669 broad.mit.edu 37 2 120850833 120850833 + Missense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:120850833A>T ENST00000263713.5 + 14 1373 c.1159A>T c.(1159-1161)Aca>Tca p.T387S EPB41L5_ENST00000331393.4_Missense_Mutation_p.T387S|EPB41L5_ENST00000443902.2_Missense_Mutation_p.T387S|EPB41L5_ENST00000443124.1_Missense_Mutation_p.T387S|EPB41L5_ENST00000452780.1_Missense_Mutation_p.T387S NM_020909.3 NP_065960.2 Q9HCM4 E41L5_HUMAN erythrocyte membrane protein band 4.1 like 5 387 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 AGCATGTGCTACAAAACCTGA 0.299000 33 60 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12569058 12569058 + Nonsense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:12569058C>T ENST00000358136.3 + 70 13277 c.13147C>T c.(13147-13149)Cag>Tag p.Q4383* VPS13D_ENST00000471923.1_Nonsense_Mutation_p.Q39*|VPS13D_ENST00000543766.1_Nonsense_Mutation_p.Q381*|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q4358*|VPS13D_ENST00000543710.1_Nonsense_Mutation_p.Q187* NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 4382 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) AAACCGAGAGCAGCTGGAGCT 0.542000 35 76 0 0 1 0 0 CDCA7 83879 broad.mit.edu 37 2 174228114 174228114 + Missense_Mutation SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:174228114A>G ENST00000306721.3 + 4 648 c.545A>G c.(544-546)aAc>aGc p.N182S CDCA7_ENST00000392567.2_Missense_Mutation_p.N103S|CDCA7_ENST00000410019.3_Missense_Mutation_p.N61S|CDCA7_ENST00000410101.3_Missense_Mutation_p.N138S|CDCA7_ENST00000347703.3_Missense_Mutation_p.N103S NM_031942.4 NP_114148.3 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 103 Arg-rich. regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.116) ACTGATTCCAACTCCGATTCA 0.443000 38 73 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179641598 179641598 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:179641598C>T ENST00000589042.1 - 28 5217 c.4993G>A c.(4993-4995)Ggg>Agg p.G1665R TTN_ENST00000342992.6_Missense_Mutation_p.G1665R|TTN_ENST00000359218.5_Missense_Mutation_p.G1619R|TTN_ENST00000460472.2_Missense_Mutation_p.G1619R|TTN_ENST00000360870.5_Missense_Mutation_p.G1665R|TTN_ENST00000591111.1_Missense_Mutation_p.G1665R|TTN_ENST00000342175.6_Missense_Mutation_p.G1619R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1409 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTATATGTCCCCCGTGGGATG 0.458000 37 79 0 0 1 0 0 GTF2IRD2P1 401375 broad.mit.edu 37 7 72658219 72658219 + RNA SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:72658219C>A ENST00000425256.1 - 0 1692 NR_002164.1 gttccgcacccttgcagaacg 0.512000 54 96 1.46156e-29 1.98963e-29 1 1 0 ZKSCAN4 387032 broad.mit.edu 37 6 28214796 28214796 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:28214796G>A ENST00000377294.2 - 4 972 c.729C>T c.(727-729)aaC>aaT p.N243N ZKSCAN4_ENST00000423974.2_Silent_p.N88N NM_019110.3 NP_061983.2 Q969J2 ZKSC4_HUMAN zinc finger with KRAB and SCAN domains 4 243 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 CTCTGTAGAGGTTCACCTGAG 0.458000 31 38 0 0 1 0 0 ZNF839 55778 broad.mit.edu 37 14 102800948 102800948 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr14:102800948C>G ENST00000262236.5 + 4 1481 c.1126C>G c.(1126-1128)Cag>Gag p.Q376E ZNF839_ENST00000559185.1_Missense_Mutation_p.Q376E|ZNF839_ENST00000558850.1_Missense_Mutation_p.Q376E|ZNF839_ENST00000442396.2_Missense_Mutation_p.Q492E NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 376 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 TCAGCTGGCTCAGGTTGTGAC 0.433000 7 13 0 0 1 0 0 SVOPL 136306 broad.mit.edu 37 7 138333839 138333839 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:138333839G>T ENST00000421622.1 - 4 426 c.218C>A c.(217-219)tCt>tAt p.S73Y SVOPL_ENST00000436657.1_Missense_Mutation_p.S41Y|SVOPL_ENST00000288513.5_Missense_Mutation_p.S41Y|SVOPL_ENST00000419765.3_Missense_Mutation_p.S193Y Q8N434 SVOPL_HUMAN SVOP-like 193 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 GATGATCACAGAGGCCAAGCC 0.542000 20 62 1.74485e-21 2.2594e-21 1 1 0 FBXO24 26261 broad.mit.edu 37 7 100189357 100189357 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:100189357C>T ENST00000241071.6 + 4 712 c.390C>T c.(388-390)ccC>ccT p.P130P FBXO24_ENST00000465843.1_Silent_p.P116P|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Silent_p.P168P|FBXO24_ENST00000360609.2_Silent_p.P116P|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Silent_p.P118P NM_033506.2 NP_277041.1 O75426 FBX24_HUMAN F-box protein 24 130 ubiquitin ligase complex ubiquitin-protein ligase activity NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2) 28 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GCGTGGCCCCCTTGCTAGCCC 0.577000 34 106 0 0 1 0 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900456 112900456 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:112900456G>A ENST00000374530.3 + 8 2812 c.2632G>A c.(2632-2634)Gaa>Aaa p.E878K AKAP2_ENST00000434623.2_Missense_Mutation_p.E736K|AKAP2_ENST00000374525.1_Missense_Mutation_p.E736K|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.E878K|AKAP2_ENST00000259318.7_Missense_Mutation_p.E647K|AKAP2_ENST00000555236.1_Missense_Mutation_p.E878K|AKAP2_ENST00000510514.5_Missense_Mutation_p.E878K|AKAP2_ENST00000482335.1_3'UTR NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 647 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 TCTGCCTGCTGAAGACAGGGC 0.567000 20 27 0 0 1 0 0 DPY19L2 283417 broad.mit.edu 37 12 63963106 63963106 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:63963106G>C ENST00000324472.4 - 21 2207 c.2024C>G c.(2023-2025)tCt>tGt p.S675C DPY19L2_ENST00000413230.2_Missense_Mutation_p.S122C NM_173812.4 NP_776173.3 Q6NUT2 D19L2_HUMAN dpy-19-like 2 (C. elegans) 675 multicellular organismal development|spermatid development integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) ACTATATGTAGAATAAACTAT 0.264000 92 125 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607384 53607384 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:53607384C>A ENST00000425354.2 - 8 1401 c.914G>T c.(913-915)gGg>gTg p.G305V RARG_ENST00000543726.1_Missense_Mutation_p.G283V|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.G305V|RARG_ENST00000338561.5_Missense_Mutation_p.G294V|RARG_ENST00000327550.3_Missense_Mutation_p.G233V NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 305 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TGTGAGGGGCCCGAAGCCGGC 0.612000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 43 3.09479e-21 3.98975e-21 1 1 0 PCDH7 5099 broad.mit.edu 37 4 30725965 30725965 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:30725965G>T ENST00000361762.2 + 1 3929 c.2921G>T c.(2920-2922)aGc>aTc p.S974I PCDH7_ENST00000543491.1_Missense_Mutation_p.S974I NM_002589.2 NP_002580.2 O60245 PCDH7_HUMAN protocadherin 7 974 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 55 CTGTCAGACAGCCCAAGCATG 0.498000 22 31 1.55795e-14 1.87984e-14 1 1 0 USH2A 7399 broad.mit.edu 37 1 215963415 215963415 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:215963415C>A ENST00000366943.2 - 51 10554 c.10168G>T c.(10168-10170)Gga>Tga p.G3390* USH2A_ENST00000307340.3_Nonsense_Mutation_p.G3390* O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3390 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) ATCATCATTCCAGTTGAAATC 0.343000 HNSCC(13;0.011) 15 79 1.05317e-09 1.18965e-09 1 1 0 BUB1 699 broad.mit.edu 37 2 111431695 111431695 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:111431695C>T ENST00000535254.1 - 2 200 c.133G>A c.(133-135)Gac>Aac p.D45N BUB1_ENST00000302759.6_Missense_Mutation_p.D65N|BUB1_ENST00000409311.1_Missense_Mutation_p.D65N NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 65 BUB1 N-terminal.|Necessary for kinetochore localization. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) AATCTTGGGTCATTGTGGTAT 0.259000 18 63 0 0 1 0 0 BCO2 83875 broad.mit.edu 37 11 112087006 112087006 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:112087006G>C ENST00000357685.5 + 11 1714 c.1579G>C c.(1579-1581)Gaa>Caa p.E527Q BCO2_ENST00000532593.1_Missense_Mutation_p.E422Q|BCO2_ENST00000531169.1_Missense_Mutation_p.E493Q|BCO2_ENST00000438022.1_Missense_Mutation_p.E493Q|BCO2_ENST00000393032.2_Missense_Mutation_p.E493Q|BCO2_ENST00000361053.4_Missense_Mutation_p.E454Q|BCO2_ENST00000526088.1_Missense_Mutation_p.E487Q Q9BYV7 BCDO2_HUMAN beta-carotene oxygenase 2 527 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1) 16 AGGAACCAATGAAGAAGATGG 0.418000 4 93 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7765479 7765479 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:7765479C>T ENST00000358415.4 + 9 1099 c.933C>T c.(931-933)atC>atT p.I311I ITIH2_ENST00000379587.4_Silent_p.I300I NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 311 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CCAAAAACATCCTCTTTGTCA 0.418000 49 89 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228556579 228556579 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:228556579G>A ENST00000570156.2 + 100 22869 c.22795G>A c.(22795-22797)Gaa>Aaa p.E7599K OBSCN_ENST00000422127.1_Missense_Mutation_p.E6642K|OBSCN_ENST00000366707.4_Missense_Mutation_p.E4276K NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6642 Fibronectin type-III 4. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CCCTGTGAGCGAAGCCTCCGA 0.612000 6 104 0 0 1 0 0 ISL2 64843 broad.mit.edu 37 15 76634116 76634116 + Silent SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:76634116C>A ENST00000290759.4 + 6 1180 c.1020C>A c.(1018-1020)tcC>tcA p.S340S RP11-685G9.2_ENST00000559539.1_RNA NM_145805.1 NP_665804.1 Q96A47 ISL2_HUMAN ISL LIM homeobox 2 340 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1) 6 ACGTGACCTCCCTGTCCTCGC 0.687000 22 54 3.5997e-14 4.31668e-14 1 1 0 TAF1C 9013 broad.mit.edu 37 16 84218573 84218573 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:84218573G>A ENST00000567759.1 - 2 204 c.22C>T c.(22-24)Cgc>Tgc p.R8C TAF1C_ENST00000378541.4_Missense_Mutation_p.R8C|TAF1C_ENST00000341690.6_Intron|TAF1C_ENST00000541676.1_Intron|TAF1C_ENST00000566732.1_Missense_Mutation_p.R8C|TAF1C_ENST00000570117.1_Intron NM_005679.3 NP_005670.3 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 8 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 AATGCAGGGCGGAGGGAGCTG 0.612000 12 18 0 0 1 0 0 LAMC2 3918 broad.mit.edu 37 1 183208591 183208591 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:183208591G>C ENST00000264144.4 + 20 3027 c.2962G>C c.(2962-2964)Gac>Cac p.D988H LAMC2_ENST00000493293.1_Missense_Mutation_p.D988H NM_005562.2 NP_005553.2 Q13753 LAMC2_HUMAN laminin, gamma 2 988 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly heparin binding p.D988H(1) breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 AGATGCCAGTGACAAGACCCA 0.537000 40 149 0 0 1 0 0 GCK 2645 broad.mit.edu 37 7 44192917 44192917 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:44192917G>A ENST00000403799.3 - 2 660 c.191C>T c.(190-192)tCc>tTc p.S64F GCK_ENST00000437084.1_Missense_Mutation_p.S64F|GCK_ENST00000345378.2_Missense_Mutation_p.S65F|GCK_ENST00000395796.3_Missense_Mutation_p.S63F NM_000162.3 NP_000153.1 P35557 HXK4_HUMAN glucokinase (hexokinase 4) 64 cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport cytosol|nucleoplasm ATP binding|glucokinase activity|glucose binding|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 37 TTCTGGGGTGGAGCGCACGTA 0.607000 29 67 0 0 1 0 0 RPN2 6185 broad.mit.edu 37 20 35827457 35827457 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr20:35827457C>G ENST00000237530.6 + 4 619 c.308C>G c.(307-309)tCt>tGt p.S103C RPN2_ENST00000373622.5_Missense_Mutation_p.S71C NM_002951.3 NP_002942.2 P04844 RPN2_HUMAN ribophorin II 103 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding p.S103C(2) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1) 24 Myeloproliferative disorder(115;0.00878) TCTTAGATCTCTATTTCAAAT 0.468000 4 84 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147127967 147127967 + Missense_Mutation SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:147127967A>T ENST00000282928.4 + 1 797 c.68A>T c.(67-69)cAc>cTc p.H23L NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 23 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 TCCCGCCACCACTCCGCGGGC 0.721000 17 20 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147914551 147914551 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:147914551C>T ENST00000361727.3 + 19 3698 c.3182C>T c.(3181-3183)cCc>cTc p.P1061L CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P120L NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 1061 Laminin G-like 4. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACCAAGGCGCCCTGCATTCTC 0.572000 HNSCC(39;0.1) 41 139 0 0 1 0 0 LMOD3 56203 broad.mit.edu 37 3 69168663 69168663 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:69168663G>C ENST00000420581.2 - 2 1022 c.843C>G c.(841-843)aaC>aaG p.N281K LMOD3_ENST00000489031.1_Missense_Mutation_p.N281K|LMOD3_ENST00000475434.1_Missense_Mutation_p.N281K NM_198271.3 NP_938012.2 Q0VAK6 LMOD3_HUMAN leiomodin 3 (fetal) 281 cytoplasm|cytoskeleton tropomyosin binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1) 13 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24) TGATGTGCTTGTTTTTCTTCA 0.388000 63 72 0 0 1 0 0 MASP1 5648 broad.mit.edu 37 3 186943239 186943239 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:186943239G>A ENST00000337774.5 - 13 2003 c.1614C>T c.(1612-1614)acC>acT p.T538T NM_001879.5 NP_001870.3 P48740 MASP1_HUMAN mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 538 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 60 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) GGTGGAGAGTGGTGTGTTTGA 0.542000 29 132 0 0 1 0 0 SEMA4B 10509 broad.mit.edu 37 15 90766792 90766792 + Splice_Site SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:90766792G>T ENST00000411539.2 + 8 1123 c.861_splice c.e8-1 p.G288_splice SEMA4B_ENST00000332496.6_Splice_Site_p.G288_splice|SEMA4B_ENST00000379122.3_Splice_Site_p.G283_splice NM_198925.2 NP_945119.1 sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1) 12 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) TCCCTCCAGGGCGATGAGGGT 0.647000 4 17 0.000602214 0.00061809 1 1 0 OR6X1 390260 broad.mit.edu 37 11 123624753 123624753 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:123624753C>T ENST00000327930.2 - 1 500 c.474G>A c.(472-474)acG>acA p.T158T NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TGAGCAGCATCGTCTGACAAA 0.527000 21 52 0 0 1 0 0 SGCZ 137868 broad.mit.edu 37 8 14095174 14095174 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:14095174G>T ENST00000382080.1 - 4 1066 c.351C>A c.(349-351)gtC>gtA p.V117V SGCZ_ENST00000421524.2_Silent_p.V70V NM_139167.2 NP_631906.2 Q96LD1 SGCZ_HUMAN sarcoglycan, zeta 104 cytoskeleton organization cytoplasm|cytoskeleton|integral to membrane|sarcolemma NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 47 all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026) CAGACTGTAAGACCAGCGGAC 0.368000 86 258 9.54843e-35 1.30899e-34 1 1 0 SAMD9L 219285 broad.mit.edu 37 7 92763399 92763399 + Missense_Mutation SNP C C A rs142436298 by1000genomes TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:92763399C>A ENST00000318238.4 - 5 3102 c.1886G>T c.(1885-1887)cGg>cTg p.R629L SAMD9L_ENST00000437805.1_Missense_Mutation_p.R629L|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R629L NM_152703.2 NP_689916.2 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 629 central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 88 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TCTTGATGACCGAGTCACCGA 0.388000 52 175 1.32667e-27 1.78932e-27 1 1 0 CRH 1392 broad.mit.edu 37 8 67089290 67089290 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:67089290G>C ENST00000276571.3 - 2 869 c.423C>G c.(421-423)ctC>ctG p.L141L NM_000756.2 NP_000747.1 P06850 CRF_HUMAN corticotropin releasing hormone 141 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) GGTGGCCGCCGAGGGCATTCC 0.672000 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 23 0 0 1 0 0 MC5R 4161 broad.mit.edu 37 18 13826560 13826560 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:13826560C>A ENST00000324750.3 + 1 1018 c.796C>A c.(796-798)Cag>Aag p.Q266K NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 266 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 TTCTTGCCCTCAGAACCTCTA 0.517000 49 88 3.39706e-21 4.36978e-21 1 1 0 ZIM3 114026 broad.mit.edu 37 19 57646877 57646877 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:57646877C>T ENST00000269834.1 - 5 1213 c.828G>A c.(826-828)aaG>aaA p.K276K NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 276 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GATAGGATTTCTTGGCATTAT 0.358000 52 114 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072606 134072606 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:134072606C>A ENST00000264360.4 + 1 2137 c.1311C>A c.(1309-1311)gaC>gaA p.D437E NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 437 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TGGCTCGGGACCGGGGCGAGC 0.597000 12 114 5.35267e-07 5.81033e-07 1 1 0 ZNF880 400713 broad.mit.edu 37 19 52887621 52887621 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:52887621C>T ENST00000422689.2 + 4 803 c.788C>T c.(787-789)aCt>aTt p.T263I NM_001145434.1 NP_001138906.1 Q6PDB4 ZN880_HUMAN zinc finger protein 880 263 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1) 10 AGAATACATACTGGAGAGAAA 0.408000 11 39 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240255867 240255867 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:240255867G>A ENST00000319653.9 + 1 688 c.458G>A c.(457-459)aGg>aAg p.R153K NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 153 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) GCCGAGGCTAGGGTCGGGGGC 0.672000 7 15 0 0 1 0 0 PGM2L1 283209 broad.mit.edu 37 11 74056633 74056633 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:74056633C>G ENST00000298198.4 - 9 1410 c.1099G>C c.(1099-1101)Gat>Cat p.D367H NM_173582.3 NP_775853.2 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 367 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(11;3.32e-06) TTCCAGCAATCAAACATCCAC 0.373000 5 64 0 0 1 0 0 OR4M1 441670 broad.mit.edu 37 14 20249338 20249338 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr14:20249338C>T ENST00000315957.4 + 1 938 c.857C>T c.(856-858)cCc>cTc p.P286L NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 286 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTACTTAATCCCATTATTTAC 0.363000 28 85 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136597220 136597220 + Missense_Mutation SNP T T G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:136597220T>G ENST00000531224.1 - 5 1695 c.1443A>C c.(1441-1443)gaA>gaC p.E481D BCLAF1_ENST00000527536.1_Missense_Mutation_p.E481D|BCLAF1_ENST00000392348.2_Missense_Mutation_p.E479D|BCLAF1_ENST00000353331.4_Missense_Mutation_p.E479D|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.E479D NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 481 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AATTTTTGTCTTCTTCTTTGT 0.358000 36 217 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897720 175897720 + Silent SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:175897720T>C ENST00000359240.3 + 5 1714 c.1044T>C c.(1042-1044)cgT>cgC p.R348R ADAM29_ENST00000404450.4_Silent_p.R348R|ADAM29_ENST00000514159.1_Silent_p.R348R|ADAM29_ENST00000445694.1_Silent_p.R348R NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 348 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ATACATGTCGTTGTTCACAAC 0.373000 22 121 0 0 1 0 0 PLCZ1 89869 broad.mit.edu 37 12 18865916 18865916 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:18865916G>T ENST00000266505.7 - 6 837 c.574C>A c.(574-576)Ctt>Att p.L192I PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L55I|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000538330.1_5'UTR|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L190I Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 192 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) CCTTTCACAAGGGCACTAGCA 0.348000 30 53 3.73148e-12 4.34967e-12 1 1 0 CCT8L2 150160 broad.mit.edu 37 22 17072850 17072850 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr22:17072850G>A ENST00000359963.3 - 1 850 c.591C>T c.(589-591)agC>agT p.S197S NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 197 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CAGGCTTGAAGCTGCCGTCTA 0.617000 42 67 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96104154 96104154 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:96104154G>C ENST00000453304.1 - 14 2693 c.2345C>G c.(2344-2346)aCt>aGt p.T782S NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 782 apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TCTTTCCAGAGTGAAGGTGCA 0.453000 22 88 0 0 1 0 0 MEGF9 1955 broad.mit.edu 37 9 123370287 123370287 + Splice_Site SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:123370287T>A ENST00000373930.3 - 5 1200 c.1087_splice c.e5-1 p.K363_splice MEGF9_ENST00000426959.1_Splice_Site_p.K400_splice NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 363 Laminin EGF-like 4. integral to membrane calcium ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 16 ATTCACTCGATTCTAAAAGAG 0.343000 36 91 0 0 1 0 0 SLC2A13 114134 broad.mit.edu 37 12 40422130 40422130 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:40422130C>A ENST00000280871.4 - 3 948 c.898G>T c.(898-900)Gaa>Taa p.E300* SLC2A13_ENST00000380858.1_Nonsense_Mutation_p.E300* NM_052885.3 NP_443117.3 Q96QE2 MYCT_HUMAN solute carrier family 2 (facilitated glucose transporter), member 13 300 integral to membrane|plasma membrane myo-inositol:hydrogen symporter activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 29 Lung NSC(34;0.105)|all_lung(34;0.123) TCCTCCTCTTCAATGTTGTTT 0.358000 HNSCC(50;0.14) 34 125 6.05902e-23 7.91603e-23 1 1 0 DBF4B 80174 broad.mit.edu 37 17 42827996 42827996 + Nonsense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:42827996G>A ENST00000315005.3 + 14 1361 c.1223G>A c.(1222-1224)tGg>tAg p.W408* DBF4B_ENST00000393547.2_Nonsense_Mutation_p.W408* NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 408 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) CAGCAGCGATGGACAGAATCA 0.567000 19 48 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21990410 21990410 + Nonstop_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:21990410T>A ENST00000594012.1 - 7 2925 c.2411A>T c.(2410-2412)tAa>tTa p.*804L ZNF43_ENST00000354959.4_Nonstop_Mutation_p.*810L|ZNF43_ENST00000598381.1_Nonstop_Mutation_p.*804L|ZNF43_ENST00000595461.1_Nonstop_Mutation_p.*804L NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) CAGTATAATTTATTTTATGTT 0.308000 12 29 0 0 1 0 0 SYT4 6860 broad.mit.edu 37 18 40857225 40857225 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:40857225G>A ENST00000255224.3 - 1 390 c.22C>T c.(22-24)Cgg>Tgg p.R8W SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.R8W NM_020783.3 NP_065834.1 Q9H2B2 SYT4_HUMAN synaptotagmin IV 8 cell junction|integral to membrane|synaptic vesicle membrane transporter activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 44 AATTCTTCCCGGCTGGTGGTG 0.478000 37 46 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74928828 74928828 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:74928828G>A ENST00000569840.2 + 11 1967 c.1393G>A c.(1393-1395)Gtg>Atg p.V465M MGAT5B_ENST00000428789.2_Missense_Mutation_p.V476M|MGAT5B_ENST00000301618.4_Missense_Mutation_p.V465M NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 465 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CATGGCCGTGGTGTACGGCAA 0.662000 10 71 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77616693 77616693 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:77616693G>T ENST00000521891.2 + 2 818 c.370G>T c.(370-372)Gtg>Ttg p.V124L ZFHX4_ENST00000050961.6_Missense_Mutation_p.V124L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V124L|ZFHX4_ENST00000518282.1_Missense_Mutation_p.V124L|ZFHX4_ENST00000517683.1_Intron NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 124 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) GGACAGTGACGTGGAAAATCT 0.488000 HNSCC(33;0.089) 23 64 1.22574e-08 1.36609e-08 1 1 0 ZP2 7783 broad.mit.edu 37 16 21221024 21221024 + Silent SNP C C T rs150656642 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:21221024C>T ENST00000574002.1 - 5 740 c.258G>A c.(256-258)ccG>ccA p.P86P ZP2_ENST00000574091.1_Silent_p.P86P|ZP2_ENST00000219593.4_Silent_p.P86P Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 86 binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) AAGTGCAGTTCGGCATGTCGA 0.498000 18 59 0 0 1 0 0 EME1 146956 broad.mit.edu 37 17 48452787 48452787 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:48452787C>A ENST00000393271.2 + 2 300 c.218C>A c.(217-219)aCt>aAt p.T73N EME1_ENST00000338165.4_Missense_Mutation_p.T73N|EME1_ENST00000511648.2_Missense_Mutation_p.T73N NM_001166131.1 NP_001159603.1 Q96AY2 EME1_HUMAN essential meiotic structure-specific endonuclease 1 73 DNA recombination|DNA repair nucleolus DNA binding|endonuclease activity|metal ion binding|protein binding endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1) 19 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;2.43e-08) ATAGCTGAAACTGTCACACAA 0.443000 Direct reversal of damage;Homologous recombination 34 69 9.62906e-15 1.16426e-14 1 1 0 ADCY8 114 broad.mit.edu 37 8 132051852 132051852 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:132051852T>A ENST00000286355.5 - 1 2820 c.728A>T c.(727-729)cAg>cTg p.Q243L ADCY8_ENST00000377928.3_Missense_Mutation_p.Q243L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 243 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GCCGCTGTACTGCAGGTACGT 0.642000 HNSCC(32;0.087) 8 23 0 0 1 0 0 TMF1 7110 broad.mit.edu 37 3 69088066 69088066 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:69088066C>T ENST00000543976.1 - 7 2177 c.1931G>A c.(1930-1932)cGt>cAt p.R644H CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.R641H NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 641 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) TACCTGAAGACGGCCAAGATC 0.383000 45 51 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51890007 51890007 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:51890007C>G ENST00000371117.3 - 32 4876 c.4601G>C c.(4600-4602)aGc>aCc p.S1534T PKHD1_ENST00000340994.4_Missense_Mutation_p.S1534T NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 1534 IPT/TIG 10. cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CACAACGTGGCTTGCATTAAA 0.453000 61 38 0 0 1 0 0 NCAM2 4685 broad.mit.edu 37 21 22804471 22804471 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr21:22804471G>A ENST00000400546.1 + 12 1773 c.1524G>A c.(1522-1524)tcG>tcA p.S508S NCAM2_ENST00000284894.7_Silent_p.S366S NM_004540.3 NP_004531.2 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 508 Fibronectin type-III 1. neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TAGAGCTGTCGCAGACCACGG 0.448000 23 37 0 0 1 0 0 POLR3F 10621 broad.mit.edu 37 20 18460705 18460705 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr20:18460705G>T ENST00000377603.4 + 6 833 c.453G>T c.(451-453)atG>atT p.M151I POLR3F_ENST00000462997.1_3'UTR NM_006466.2 NP_006457.2 Q9H1D9 RPC6_HUMAN polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa 151 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|protein binding breast(2) 2 AGGTGTATATGCTCTATAACC 0.398000 31 76 2.20474e-14 2.64931e-14 1 1 0 PPARA 5465 broad.mit.edu 37 22 46594409 46594409 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr22:46594409G>T ENST00000396000.2 + 3 394 c.129G>T c.(127-129)gaG>gaT p.E43D PPARA_ENST00000402126.1_Missense_Mutation_p.E43D|PPARA_ENST00000434345.2_Missense_Mutation_p.E43D|PPARA_ENST00000262735.5_Missense_Mutation_p.E43D|PPARA_ENST00000407236.1_Missense_Mutation_p.E43D Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 43 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) CCATCGGCGAGGATAGTTCTG 0.517000 39 106 1.59361e-14 1.9189e-14 1 1 0 FKBP8 23770 broad.mit.edu 37 19 18652490 18652490 + Splice_Site SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:18652490C>A ENST00000597960.2 - 2 411 c.292_splice c.e2+1 p.L97_splice FKBP8_ENST00000596558.1_Splice_Site_p.L97_splice|FKBP8_ENST00000544835.2_Splice_Site_p.L97_splice|FKBP8_ENST00000453489.2_Splice_Site_p.L126_splice|FKBP8_ENST00000222308.3_Splice_Site_p.L97_splice Q14318 FKBP8_HUMAN FK506 binding protein 8, 38kDa 97 apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1) 15 GCTCCTTACCCAGAATGTCCA 0.657000 5 36 0.0381472 0.0383442 1 1 0 SP7 121340 broad.mit.edu 37 12 53722592 53722592 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:53722592C>A ENST00000536324.2 - 3 917 c.634G>T c.(634-636)Gct>Tct p.A212S SP7_ENST00000303846.3_Missense_Mutation_p.A212S|SP7_ENST00000537210.2_Missense_Mutation_p.A194S NM_001173467.1 NP_001166938.1 Q8TDD2 SP7_HUMAN Sp7 transcription factor 212 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1) 14 AGGTGGGGAGCTGGGTAGGGG 0.597000 22 58 5.35356e-11 6.14239e-11 1 1 0 KCTD20 222658 broad.mit.edu 37 6 36454839 36454839 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:36454839G>C ENST00000373731.2 + 8 1538 c.1147G>C c.(1147-1149)Gat>Cat p.D383H KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000544295.1_Missense_Mutation_p.D137H|KCTD20_ENST00000536244.1_Missense_Mutation_p.D238H|KCTD20_ENST00000449081.2_Missense_Mutation_p.D217H NM_173562.3 NP_775833.2 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerization domain containing 20 383 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1) 15 AGCTGCTGGAGATGATGTCTT 0.488000 10 151 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24772189 24772189 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:24772189C>A ENST00000221166.5 + 1 1665 c.883C>A c.(883-885)Cgc>Agc p.R295S NEFM_ENST00000518131.1_Missense_Mutation_p.R295S|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000437366.2_Missense_Mutation_p.R295S|GS1-72M22.1_ENST00000607058.1_RNA P07197 NFM_HUMAN neurofilament, medium polypeptide 295 Coil 2B.|Rod. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GTTCAAATGCCGCTACGCCAA 0.607000 8 27 5.18039e-06 5.52071e-06 1 1 0 DCDC1 341019 broad.mit.edu 37 11 30926565 30926565 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:30926565G>A ENST00000597505.1 - 29 4250 c.4251C>T c.(4249-4251)taC>taT p.Y1417Y DCDC1_ENST00000406071.2_Silent_p.Y152Y|DCDC1_ENST00000339794.5_Silent_p.Y496Y P59894 DCDC1_HUMAN doublecortin domain containing 1 179 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) CCCCATTTTTGTATGCAATTA 0.458000 78 86 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77356280 77356280 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:77356280G>A ENST00000282849.5 - 14 2534 c.2116C>T c.(2116-2118)Ccc>Tcc p.P706S NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 706 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 GGGGAGCAGGGAGTTCCATCT 0.398000 40 91 0 0 1 0 0 ZNF532 55205 broad.mit.edu 37 18 56620777 56620777 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:56620777G>C ENST00000336078.4 + 8 3672 c.2896G>C c.(2896-2898)Gaa>Caa p.E966Q ZNF532_ENST00000591230.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000589288.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000591808.1_Missense_Mutation_p.E966Q|ZNF532_ENST00000591083.1_Missense_Mutation_p.E966Q NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 966 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 GAAAAGTATTGAAGGGCCTCC 0.348000 6 67 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3784149 3784149 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:3784149G>A ENST00000310132.6 - 5 733 c.335C>T c.(334-336)tCc>tTc p.S112F MATK_ENST00000395045.2_Missense_Mutation_p.S113F|MATK_ENST00000395040.2_Missense_Mutation_p.S71F|MATK_ENST00000585778.1_Missense_Mutation_p.S112F NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 112 cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGTCTGCGGAGAGGGCCTC 0.687000 13 39 0 0 1 0 0 OR6T1 219874 broad.mit.edu 37 11 123814526 123814526 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:123814526G>T ENST00000321252.2 - 1 54 c.20C>A c.(19-21)aCt>aAt p.T7N NM_001005187.1 NP_001005187.1 Q8NGN1 OR6T1_HUMAN olfactory receptor, family 6, subfamily T, member 1 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TGTTACCTGAGTCCAGTTTTC 0.453000 33 64 6.00712e-18 7.52824e-18 1 1 0 FAP 2191 broad.mit.edu 37 2 163059581 163059581 + Nonsense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:163059581G>T ENST00000188790.4 - 13 1329 c.1122C>A c.(1120-1122)taC>taA p.Y374* FAP_ENST00000443424.1_Nonsense_Mutation_p.Y349* NM_004460.2 NP_004451.2 Q12884 SEPR_HUMAN fibroblast activation protein, alpha 374 endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4) 63 GAATATGTTTGTAGCCATCCT 0.358000 16 39 6.49762e-13 7.63503e-13 1 1 0 CYP4F11 57834 broad.mit.edu 37 19 16034646 16034646 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:16034646G>A ENST00000326742.7 - 6 895 c.894C>T c.(892-894)ttC>ttT p.F298F CYP4F11_ENST00000248041.7_Silent_p.F298F|CYP4F11_ENST00000402119.3_Silent_p.F298F Q9HBI6 CP4FB_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 11 298 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 GCACATCAATGAAGTCTAAAG 0.463000 48 116 0 0 1 0 0 RCSD1 92241 broad.mit.edu 37 1 167666589 167666589 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:167666589C>A ENST00000367854.3 + 6 1059 c.728C>A c.(727-729)cCc>cAc p.P243H RCSD1_ENST00000537350.1_Missense_Mutation_p.P213H NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 243 RCSD. NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) AGGAGGTCACCCAGCAGGACA 0.622000 17 15 3.52763e-06 3.76625e-06 1 1 0 KHDRBS2 202559 broad.mit.edu 37 6 62604695 62604695 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:62604695C>A ENST00000281156.4 - 6 933 c.655G>T c.(655-657)Ggt>Tgt p.G219C NM_152688.2 NP_689901.2 Q5VWX1 KHDR2_HUMAN KH domain containing, RNA binding, signal transduction associated 2 219 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 BRCA - Breast invasive adenocarcinoma(397;0.149) GTGAGAACACCTCGTCCAGGT 0.592000 14 16 4.36969e-10 4.97446e-10 1 1 0 LCMT1 51451 broad.mit.edu 37 16 25176024 25176024 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:25176024C>T ENST00000399069.3 + 7 830 c.675C>T c.(673-675)ttC>ttT p.F225F LCMT1_ENST00000380966.4_Silent_p.F170F|LCMT1_ENST00000572869.1_3'UTR NM_016309.2 NP_057393.2 Q9UIC8 LCMT1_HUMAN leucine carboxyl methyltransferase 1 225 protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity GBM - Glioblastoma multiforme(48;0.0336) L-Leucine(DB00149) GAGCCATGTTCATAAACTACG 0.502000 30 68 0 0 1 0 0 BRF2 55290 broad.mit.edu 37 8 37702660 37702660 + Missense_Mutation SNP C C A rs143386716 by1000genomes TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:37702660C>A ENST00000220659.6 - 4 728 c.608G>T c.(607-609)cGa>cTa p.R203L BRF2_ENST00000520601.1_3'UTR NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 203 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) CTGCATTGTTCGAGACAGCAT 0.517000 25 54 4.47668e-21 5.74589e-21 1 1 0 MYPN 84665 broad.mit.edu 37 10 69926399 69926399 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:69926399C>G ENST00000358913.5 + 10 2437 c.1949C>G c.(1948-1950)cCt>cGt p.P650R MYPN_ENST00000540630.1_Missense_Mutation_p.P650R|MYPN_ENST00000354393.2_Missense_Mutation_p.P375R NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 650 Interaction with NEB. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 AAAGAGCCCCCTCCAGTTCTG 0.483000 26 21 0 0 1 0 0 OR11H6 122748 broad.mit.edu 37 14 20692494 20692494 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr14:20692494C>A ENST00000315519.2 + 1 704 c.626C>A c.(625-627)tCt>tAt p.S209Y NM_001004480.1 NP_001004480.1 Q8NGC7 O11H6_HUMAN olfactory receptor, family 11, subfamily H, member 6 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2) 29 all_cancers(95;0.00108) Epithelial(56;1.75e-06)|all cancers(55;1.22e-05) GBM - Glioblastoma multiforme(265;0.0143) GCCTGCATCTCTGCTCCTTCC 0.498000 41 30 1.62957e-23 2.13379e-23 1 1 0 TSSC1 7260 broad.mit.edu 37 2 3196187 3196187 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:3196187C>G ENST00000398659.4 - 9 1208 c.1068G>C c.(1066-1068)gaG>gaC p.E356D TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Missense_Mutation_p.E329D Q53HC9 TSSC1_HUMAN tumor suppressing subtransferable candidate 1 329 protein binding breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 18 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.212) OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464) GCCCTTACTTCTCTTCAGAAC 0.562000 4 61 0 0 1 0 0 ECE2 9718 broad.mit.edu 37 3 184008893 184008893 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:184008893C>T ENST00000402825.3 + 17 2254 c.2254C>T c.(2254-2256)Cgg>Tgg p.R752W ECE2_ENST00000357474.5_Missense_Mutation_p.R680W|ECE2_ENST00000404464.3_Missense_Mutation_p.R634W|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000359140.4_Missense_Mutation_p.R605W NM_014693.3 NP_055508.3 O60344 ECE2_HUMAN endothelin converting enzyme 2 752 Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity p.R605W(1)|p.R680W(1)|p.R752W(1) breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4) 49 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GGCAGCCTTCCGGAACCACAC 0.582000 20 75 0 0 1 0 0 YWHAB 7529 broad.mit.edu 37 20 43533728 43533728 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr20:43533728G>C ENST00000372839.3 + 5 818 c.544G>C c.(544-546)Gag>Cag p.E182Q YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.E182Q NM_003404.3 NP_003395.1 P31946 1433B_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide 182 activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction centrosome|cytosol|melanosome|perinuclear region of cytoplasm histone deacetylase binding|phosphoserine binding|protein domain specific binding breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1) 12 Myeloproliferative disorder(115;0.0122) CTTTTACTATGAGATTCTAAA 0.403000 4 88 0 0 1 0 0 NEIL3 55247 broad.mit.edu 37 4 178274519 178274519 + Missense_Mutation SNP C C A rs115288700 by1000genomes TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:178274519C>A ENST00000264596.3 + 8 1215 c.1097C>A c.(1096-1098)cCg>cAg p.P366Q RP11-376O6.2_ENST00000506895.1_RNA NM_018248.2 NP_060718.2 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 (E. coli) 366 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) ATGAAGTACCCGTGTAATACT 0.358000 Base excision repair (BER), DNA glycosylases 11 76 9.05144e-12 1.0509e-11 1 1 0 FMN2 56776 broad.mit.edu 37 1 240255868 240255868 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:240255868G>T ENST00000319653.9 + 1 689 c.459G>T c.(457-459)agG>agT p.R153S NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 153 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCGAGGCTAGGGTCGGGGGCC 0.672000 8 12 0.000157383 0.000163544 1 1 0 ROS1 6098 broad.mit.edu 37 6 117642486 117642486 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:117642486C>A ENST00000368508.3 - 35 5911 c.5713G>T c.(5713-5715)Gag>Tag p.E1905* GOPC_ENST00000467125.1_5'UTR|ROS1_ENST00000368507.3_Nonsense_Mutation_p.E1899* NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 1905 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TCAGCCAACTCTTTGTCTTCG 0.438000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 71 178 1.93348e-29 2.62593e-29 1 1 0 RYR2 6262 broad.mit.edu 37 1 237656292 237656292 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:237656292G>C ENST00000366574.2 + 19 2183 c.1866G>C c.(1864-1866)ggG>ggC p.G622G RYR2_ENST00000360064.6_Silent_p.G620G|RYR2_ENST00000542537.1_Silent_p.G606G NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 622 B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTGCCACGGGGTTGCAGTCC 0.498000 18 21 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53541549 53541549 + Missense_Mutation SNP C C T rs76250115 byFrequency TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:53541549C>T ENST00000371500.3 + 7 915 c.574C>T c.(574-576)Cgc>Tgc p.R192C PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.R211C|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 163 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CTTGGCACCCCGCTTCCTGCC 0.597000 3 20 0 0 1 0 0 HNRNPM 4670 broad.mit.edu 37 19 8531138 8531138 + Nonsense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:8531138G>A ENST00000348943.3 + 8 765 c.533G>A c.(532-534)tGg>tAg p.W178* HNRNPM_ENST00000325495.4_Nonsense_Mutation_p.W217* NM_031203.3 NP_112480.2 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 217 alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1) 25 AAAGTTGGCTGGAAGAAACTG 0.383000 6 161 0 0 1 0 0 TRPC5 7224 broad.mit.edu 37 X 111025209 111025209 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:111025209C>G ENST00000262839.2 - 8 2972 c.2054G>C c.(2053-2055)aGa>aCa p.R685T NM_012471.2 NP_036603.1 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, subfamily C, member 5 685 axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GTCAGGGTCTCTTTTGGGGCA 0.433000 67 36 0 0 1 0 0 HCP5 10866 broad.mit.edu 37 6 31431003 31431003 + RNA SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:31431003G>T ENST00000414046.2 + 0 166 NR_040662.1 Q6MZN7 HCP5_HUMAN defense response urinary_tract(1) 1 ATGGAGTCCCGAACCCTCCTC 0.647000 6 5 2.0095e-06 2.14935e-06 1 1 0 HERC2 8924 broad.mit.edu 37 15 28380704 28380704 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:28380704G>C ENST00000261609.7 - 79 12258 c.12150C>G c.(12148-12150)caC>caG p.H4050Q NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 4050 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGGCAAGGCAGTGCTTTCCTC 0.463000 69 127 0 0 1 0 0 C4orf27 54969 broad.mit.edu 37 4 170658814 170658814 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:170658814C>T ENST00000393381.2 - 6 808 c.733G>A c.(733-735)Gat>Aat p.D245N NM_017867.2 NP_060337.2 Q9NWY4 CD027_HUMAN chromosome 4 open reading frame 27 245 nucleus NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 12 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116) ACATTACCATCTGTTTCAGGG 0.358000 14 53 0 0 1 0 0 UXT 8409 broad.mit.edu 37 X 47518284 47518284 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:47518284C>G ENST00000335890.2 - 1 232 c.79G>C c.(79-81)Gag>Cag p.E27Q UXT_ENST00000333119.3_Missense_Mutation_p.E15Q|RP1-212G6.7_ENST00000590504.1_RNA|RP1-212G6.7_ENST00000591832.1_RNA NM_153477.2 NP_705582.1 Q9UBK9 UXT_HUMAN ubiquitously-expressed, prefoldin-like chaperone 15 centrosome organization|mitochondrion transport along microtubule|protein folding centrosome|nucleus|prefoldin complex beta-tubulin binding|microtubule binding|unfolded protein binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1) 6 AGCACTTTCTCCCCCGTGGCC 0.652000 3 15 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30570172 30570172 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:30570172G>A ENST00000376511.2 - 19 2806 c.2254C>T c.(2254-2256)Cgt>Tgt p.R752C NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 752 Gly-rich. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TCGTGAGGACGATGCCCACCA 0.672000 9 105 0 0 1 0 0 SLC2A14 144195 broad.mit.edu 37 12 7973852 7973852 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:7973852C>T ENST00000543909.1 - 13 1762 c.1003G>A c.(1003-1005)Gcg>Acg p.A335T SLC2A14_ENST00000340749.5_Missense_Mutation_p.A312T|SLC2A14_ENST00000431042.2_Missense_Mutation_p.A312T|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A350T|SLC2A14_ENST00000535295.1_Missense_Mutation_p.A226T|SLC2A14_ENST00000542505.1_5'UTR|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A335T|SLC2A14_ENST00000542546.1_Missense_Mutation_p.A226T Q8TDB8 GTR14_HUMAN solute carrier family 2 (facilitated glucose transporter), member 14 335 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane glucose transmembrane transporter activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 38 Kidney(36;0.0883) ACCACACCCGCGCTGATGGTG 0.408000 7 137 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863538 55863538 + Missense_Mutation SNP G G A rs141132100 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:55863538G>A ENST00000327335.4 - 1 384 c.385C>T c.(385-387)Cgt>Tgt p.R129C RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R129S(1) autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 GACATATAACGCAAAGGTTTG 0.388000 17 74 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 144832258 144832258 + Splice_Site SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:144832258T>C ENST00000367545.3 + 34 4943 c.4944_splice c.e34+1 p.M1648_splice NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 1648 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) AATACCTTGATGGTATGTCTC 0.393000 34 83 0 0 1 0 0 HIAT1 64645 broad.mit.edu 37 1 100546113 100546113 + Silent SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:100546113C>A ENST00000370152.3 + 11 1300 c.1164C>A c.(1162-1164)ctC>ctA p.L388L RP4-714D9.2_ENST00000432294.1_RNA NM_033055.2 NP_149044.2 Q96MC6 HIAT1_HUMAN hippocampus abundant transcript 1 388 transmembrane transport integral to membrane|plasma membrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1) 16 all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195) GACCGGCCCTCTATGGATTCA 0.403000 53 122 1.19403e-26 1.58842e-26 1 1 0 EDEM2 55741 broad.mit.edu 37 20 33711699 33711699 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr20:33711699G>A ENST00000540582.1 - 13 1706 c.985C>T c.(985-987)Cgg>Tgg p.R329W EDEM2_ENST00000542871.1_Missense_Mutation_p.R94W|EDEM2_ENST00000374492.3_Missense_Mutation_p.R370W|EDEM2_ENST00000541621.1_Missense_Mutation_p.R149W|EDEM2_ENST00000374491.2_Missense_Mutation_p.R333W Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 2 370 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 22 BRCA - Breast invasive adenocarcinoma(18;0.00936) TCACCTGGCCGAAGTGGGTAG 0.547000 17 53 0 0 1 0 0 OLFM2 93145 broad.mit.edu 37 19 9965001 9965001 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:9965001G>A ENST00000264833.4 - 6 1411 c.1226C>T c.(1225-1227)cCc>cTc p.P409L OLFM2_ENST00000590841.1_Missense_Mutation_p.P331L NM_058164.2 NP_477512.1 O95897 NOE2_HUMAN olfactomedin 2 409 Olfactomedin-like. extracellular region breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 31 GTTGTGGAAGGGCACGTCCGT 0.562000 52 95 0 0 1 0 0 TBC1D8 11138 broad.mit.edu 37 2 101652552 101652552 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:101652552C>T ENST00000409318.1 - 9 1661 c.1531G>A c.(1531-1533)Gag>Aag p.E511K TBC1D8_ENST00000376840.4_Missense_Mutation_p.E496K NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 496 Rab-GAP TBC. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 CGAATCTTCTCTGTGCGAAAC 0.468000 63 113 0 0 1 0 0 THADA 63892 broad.mit.edu 37 2 43547613 43547613 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:43547613G>T ENST00000405006.4 - 31 4761 c.4410C>A c.(4408-4410)ctC>ctA p.L1470L THADA_ENST00000405975.2_Silent_p.L1470L|THADA_ENST00000415080.2_Silent_p.L1151L|THADA_ENST00000330266.7_Intron NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1470 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CAGATCTGTTGAGGCAGCAAG 0.378000 34 74 1.04594e-18 1.31361e-18 1 1 0 PLCZ1 89869 broad.mit.edu 37 12 18847913 18847913 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:18847913T>A ENST00000266505.7 - 12 1655 c.1392A>T c.(1390-1392)ttA>ttT p.L464F PLCZ1_ENST00000435379.1_Missense_Mutation_p.L269F|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L327F|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L271F|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L246F|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L462F Q86YW0 PLCZ1_HUMAN phospholipase C, zeta 1 464 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|multicellular organismal development nucleus|perinuclear region of cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) TACTCTCTCTTAAGAAATGTG 0.328000 19 68 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20806919 20806919 + Silent SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:20806919C>A ENST00000359062.3 + 15 3004 c.2964C>A c.(2962-2964)ccC>ccA p.P988P PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 988 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CCATAAGCCCCTTCATGGATC 0.448000 25 62 2.27525e-19 2.87608e-19 1 1 0 KIF1B 23095 broad.mit.edu 37 1 10355164 10355164 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:10355164C>T ENST00000377086.1 + 18 1813 c.1611C>T c.(1609-1611)ctC>ctT p.L537L KIF1B_ENST00000377081.1_Silent_p.L537L|KIF1B_ENST00000377093.4_Silent_p.L491L|KIF1B_ENST00000377083.1_Silent_p.L491L|KIF1B_ENST00000263934.6_Silent_p.L491L O60333 KIF1B_HUMAN kinesin family member 1B 537 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2) 71 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) TTGTTAACCTCAATGAAGACC 0.423000 28 88 0 0 1 0 0 RAB3IP 117177 broad.mit.edu 37 12 70149380 70149380 + Silent SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:70149380T>A ENST00000550536.1 + 2 697 c.240T>A c.(238-240)ccT>ccA p.P80P RAB3IP_ENST00000483530.2_Silent_p.P64P|RAB3IP_ENST00000378815.6_Silent_p.P64P|RAB3IP_ENST00000362025.5_Silent_p.P80P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Silent_p.P64P NM_001278402.1|NM_175623.2 NP_001265331.1|NP_783322.1 Q96QF0 RAB3I_HUMAN RAB3A interacting protein 80 cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus guanyl-nucleotide exchange factor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 Esophageal squamous(21;0.187) Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694) CTGAACTTCCTACACAACCCG 0.393000 51 63 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150444725 150444725 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:150444725G>A ENST00000401000.4 + 10 3288 c.3223G>A c.(3223-3225)Gag>Aag p.E1075K RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Missense_Mutation_p.E1101K Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1101 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 GATGTCAGGGGAGCCGATCCA 0.532000 11 21 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16902219 16902219 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:16902219C>T ENST00000524140.2 + 14 3417 c.2999C>T c.(2998-3000)tCt>tTt p.S1000F NWD1_ENST00000523826.1_Missense_Mutation_p.S794F|NWD1_ENST00000552788.1_Missense_Mutation_p.S1000F|NWD1_ENST00000549814.1_Missense_Mutation_p.S1000F|NWD1_ENST00000379808.3_Missense_Mutation_p.S1000F|NWD1_ENST00000339803.6_Missense_Mutation_p.S865F NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 1000 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 GGAGATGCCTCTGATCCTTGG 0.527000 6 112 0 0 1 0 0 GPR12 2835 broad.mit.edu 37 13 27333515 27333515 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr13:27333515C>G ENST00000405846.3 - 2 671 c.450G>C c.(448-450)tcG>tcC p.S150S GPR12_ENST00000381436.2_Silent_p.S150S NM_005288.3 NP_005279.1 P47775 GPR12_HUMAN G protein-coupled receptor 12 150 integral to plasma membrane endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(5;5.77e-05) Breast(139;0.198) Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184) CCGTCCTCTCCGAATGGTACG 0.582000 18 18 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38768458 38768458 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:38768458T>A ENST00000449082.2 - 16 2725 c.2726A>T c.(2725-2727)aAc>aTc p.N909I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 909 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CACCTGCAGGTTGTTCACCTC 0.562000 49 49 0 0 1 0 0 LRRC4B 94030 broad.mit.edu 37 19 51021474 51021474 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:51021474G>T ENST00000599957.1 - 3 1693 c.1496C>A c.(1495-1497)cCc>cAc p.P499H LRRC4B_ENST00000389201.3_Missense_Mutation_p.P499H Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B 499 Gly-rich. cell junction|integral to membrane|presynaptic membrane breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 30 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) CTCCTCTCCGGGCTGCGTCTC 0.746000 3 14 0.115264 0.11566 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139209765 139209765 + Nonsense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:139209765C>A ENST00000395297.1 - 8 987 c.817G>T c.(817-819)Gag>Tag p.E273* NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 273 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TTACCCAGCTCCGTGTGTGGC 0.602000 HNSCC(54;0.14) 23 39 5.45024e-15 6.60361e-15 1 1 0 CNOT4 4850 broad.mit.edu 37 7 135078968 135078968 + Silent SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:135078968A>T ENST00000428680.2 - 10 1599 c.1320T>A c.(1318-1320)acT>acA p.T440T CNOT4_ENST00000423368.2_Silent_p.T443T|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000541284.1_Silent_p.T443T|CNOT4_ENST00000315544.5_Silent_p.T443T|CNOT4_ENST00000361528.4_Silent_p.T440T|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Silent_p.T440T NM_001008225.2 NP_001008226.1 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 443 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 TGGCGGTTGTAGTGTGTGAAG 0.498000 86 87 0 0 1 0 0 SLC2A5 6518 broad.mit.edu 37 1 9100042 9100042 + Silent SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:9100042T>A ENST00000377424.4 - 7 881 c.702A>T c.(700-702)ctA>ctT p.L234L SLC2A5_ENST00000535586.1_Silent_p.L119L|SLC2A5_ENST00000536305.1_Silent_p.L175L NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 234 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GCAGCGTCTGTAGGGCTGGGG 0.687000 13 38 0 0 1 0 0 NPIPA1 9284 broad.mit.edu 37 16 15045813 15045813 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:15045813C>G ENST00000328085.6 + 8 984 c.984C>G c.(982-984)ctC>ctG p.L328L NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 ATGATAATCTCAAGACACCTC 0.468000 23 150 0 0 1 0 0 SP110 3431 broad.mit.edu 37 2 231065661 231065661 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:231065661C>G ENST00000258381.6 - 10 1146 c.1069G>C c.(1069-1071)Gaa>Caa p.E357Q SP110_ENST00000338556.3_Missense_Mutation_p.E59Q|SP110_ENST00000358662.4_Missense_Mutation_p.E357Q|SP110_ENST00000540870.1_Missense_Mutation_p.E363Q|SP110_ENST00000258382.5_Missense_Mutation_p.E357Q|SP110_ENST00000392048.3_Missense_Mutation_p.E355Q NM_080424.2 NP_536349.2 Q9HB58 SP110_HUMAN SP110 nuclear body protein 357 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) TCATTCATTTCTGAAGTGCCA 0.473000 5 173 0 0 1 0 0 HIST1H2BI 8346 broad.mit.edu 37 6 26273432 26273432 + Nonsense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:26273432G>T ENST00000377733.2 + 1 289 c.229G>T c.(229-231)Gag>Tag p.E77* NM_003525.2 NP_003516.1 P62807 H2B1C_HUMAN histone cluster 1, H2bi 77 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding p.E77Q(2)|p.E77K(2) central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1) 16 CATTGCAGGCGAGGCTTCCCG 0.587000 9 139 7.48243e-07 8.06225e-07 1 1 0 DTX1 1840 broad.mit.edu 37 12 113534540 113534540 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:113534540G>T ENST00000257600.3 + 9 2162 c.1659G>T c.(1657-1659)acG>acT p.T553T DTX1_ENST00000547974.1_3'UTR NM_004416.2 NP_004407.2 Q86Y01 DTX1_HUMAN deltex homolog 1 (Drosophila) 553 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 32 TGCTCATCACGGCCTGGGAGA 0.642000 18 17 3.99206e-14 4.76761e-14 1 1 0 CXorf27 25763 broad.mit.edu 37 X 37850191 37850191 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:37850191C>A ENST00000341016.3 + 1 122 c.99C>A c.(97-99)gaC>gaA p.D33E TM4SF2_ENST00000465127.1_Intron NM_012274.1 NP_036406.1 O75409 HYPM_HUMAN chromosome X open reading frame 27 33 DNA binding central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2) 8 GCTTCGTGGACCGCGTTGTGC 0.468000 16 9 1.15088e-07 1.25394e-07 1 1 0 NEK11 79858 broad.mit.edu 37 3 130889723 130889723 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:130889723G>C ENST00000383366.4 + 14 1684 c.1391G>C c.(1390-1392)gGa>gCa p.G464A NEK11_ENST00000508196.1_Missense_Mutation_p.G464A|NEK11_ENST00000429253.2_Missense_Mutation_p.G464A|NEK11_ENST00000356918.4_Missense_Mutation_p.G464A|NEK11_ENST00000412440.2_Missense_Mutation_p.G280A|NEK11_ENST00000511262.1_Missense_Mutation_p.G464A|NEK11_ENST00000510769.1_Missense_Mutation_p.G359A|NEK11_ENST00000507910.1_Missense_Mutation_p.G464A|NEK11_ENST00000510688.1_Missense_Mutation_p.G464A NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 464 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 TCTGACCTTGGATACCATGGT 0.498000 67 142 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140588711 140588711 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:140588711G>T ENST00000239450.2 + 1 421 c.232G>T c.(232-234)Gac>Tac p.D78Y PCDHB12_ENST00000541609.1_Intron NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 78 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTGCAGCTGGACACAAACAC 0.498000 52 38 2.0833e-19 2.63915e-19 1 1 0 FSCN3 29999 broad.mit.edu 37 7 127238524 127238524 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:127238524C>G ENST00000265825.5 + 4 1215 c.996C>G c.(994-996)ccC>ccG p.P332P FSCN3_ENST00000420086.2_Silent_p.P198P NM_020369.2 NP_065102.1 Q9NQT6 FSCN3_HUMAN fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) 332 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 ATGGGCACCCCCTGGAGTCTG 0.557000 47 142 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 71016365 71016365 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:71016365G>T ENST00000334414.6 - 3 557 c.513C>A c.(511-513)ctC>ctA p.L171L PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550358.1_Silent_p.L171L|PTPRB_ENST00000551525.1_Silent_p.L170L NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 0 Fibronectin type-III 2. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TAAAGGTAGTGAGAATCTGGG 0.453000 8 10 5.4927e-09 6.15689e-09 1 1 0 CUX2 23316 broad.mit.edu 37 12 111744770 111744770 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:111744770G>C ENST00000261726.6 + 11 1058 c.904G>C c.(904-906)Gcg>Ccg p.A302P NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 302 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.A302S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GCTGGAGGCCGCGCTGGCCTC 0.637000 47 59 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15739956 15739956 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:15739956G>T ENST00000281171.4 + 24 3711 c.3381G>T c.(3379-3381)aaG>aaT p.K1127N PTPRO_ENST00000445537.2_Missense_Mutation_p.K316N|PTPRO_ENST00000544244.1_Missense_Mutation_p.K288N|PTPRO_ENST00000542557.1_Missense_Mutation_p.K288N|PTPRO_ENST00000442921.2_Missense_Mutation_p.K316N|PTPRO_ENST00000348962.2_Missense_Mutation_p.K1099N NM_030667.2 NP_109592.1 Q16827 PTPRO_HUMAN protein tyrosine phosphatase, receptor type, O 1127 Tyrosine-protein phosphatase. integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) AAGCTACCAAGAGCAAAGGTC 0.443000 41 55 3.54561e-26 4.70599e-26 1 1 0 MIIP 60672 broad.mit.edu 37 1 12091355 12091355 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:12091355G>A ENST00000436478.2 + 8 980 c.878G>A c.(877-879)cGa>cAa p.R293Q MIIP_ENST00000235332.4_Silent_p.P325P|MIIP_ENST00000466860.1_3'UTR Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 0 autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 TTTTTCCTCCGAAGTCTGAGA 0.607000 8 28 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80256602 80256602 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:80256602G>C ENST00000265080.4 + 1 112 c.45G>C c.(43-45)ctG>ctC p.L15L CTC-459I6.1_ENST00000505694.1_RNA NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 15 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CCCTGTACCTGGCCTTTCTGG 0.687000 7 11 0 0 1 0 0 OR52J3 119679 broad.mit.edu 37 11 5067999 5067999 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:5067999C>G ENST00000380370.1 + 1 244 c.244C>G c.(244-246)Cgc>Ggc p.R82G NM_001001916.2 NP_001001916.2 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, member 3 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R82C(1) NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2) 36 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCTGTGCCTCGCATGCTGGG 0.498000 4 77 0 0 1 0 0 RNF220 55182 broad.mit.edu 37 1 45091998 45091998 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:45091998G>A ENST00000355387.2 + 5 1284 c.834G>A c.(832-834)agG>agA p.R278R RNF220_ENST00000372247.2_Silent_p.R278R|RNF220_ENST00000443020.2_Silent_p.R39R|RNF220_ENST00000361799.2_Silent_p.R278R Q5VTB9 RN220_HUMAN ring finger protein 220 278 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 29 CCATCAAGAGGGAAGGAGAGT 0.542000 16 32 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26663285 26663285 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:26663285C>G ENST00000288710.2 + 8 1002 c.928C>G c.(928-930)Cag>Gag p.Q310E DRC1_ENST00000483675.1_3'UTR NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) AGCAATTTATCAGCTAAACCA 0.368000 20 37 0 0 1 0 0 GABRQ 55879 broad.mit.edu 37 X 151821659 151821659 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:151821659C>T ENST00000370306.2 + 9 1834 c.1814C>T c.(1813-1815)cCa>cTa p.P605L NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 605 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) GACTACGTCCCAAAGGTCGAC 0.512000 41 25 0 0 1 0 0 OR1J4 26219 broad.mit.edu 37 9 125281913 125281913 + Missense_Mutation SNP A A C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:125281913A>C ENST00000340750.1 + 1 494 c.494A>C c.(493-495)cAg>cCg p.Q165P NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 CTCCTGGCCCAGCTGTCCTTT 0.502000 38 74 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561321 44561321 + Missense_Mutation SNP G G C rs138936821 byFrequency TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr18:44561321G>C ENST00000332567.4 - 1 667 c.315C>G c.(313-315)gaC>gaG p.D105E KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 105 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding p.D105E(1) breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCTTTTCCTGGTCCTGAAGAG 0.662000 69 57 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50784949 50784949 + Silent SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:50784949T>A ENST00000433963.1 + 16 2786 c.2286T>A c.(2284-2286)atT>atA p.I762I USP8_ENST00000396444.3_Silent_p.I762I|USP8_ENST00000425032.3_Silent_p.I656I|USP8_ENST00000307179.4_Silent_p.I762I NM_001128611.1 NP_001122083.1 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 762 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CTTCTCAGATTCGGAACCTCA 0.398000 23 77 0 0 1 0 0 TRIM36 55521 broad.mit.edu 37 5 114483091 114483091 + Splice_Site SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:114483091C>A ENST00000513154.1 - 3 589 c.262_splice c.e3-1 p.G88_splice TRIM36_ENST00000282369.3_Splice_Site_p.G100_splice|TRIM36_ENST00000514154.1_5'UTR|TRIM36_ENST00000515104.1_5'UTR Q9NQ86 TRI36_HUMAN tripartite motif containing 36 100 acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 37 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GCGCTTCCAGCCTGTGTAATT 0.408000 29 28 5.45727e-16 6.69547e-16 1 1 0 NAGPA 51172 broad.mit.edu 37 16 5077278 5077278 + Splice_Site SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:5077278C>T ENST00000312251.3 - 8 1296 c.e8+1 NAGPA_ENST00000381955.3_Intron|RP11-165E7.1_ENST00000588778.1_RNA NM_016256.3 NP_057340.2 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1) 12 N-Acetyl-D-glucosamine(DB00141) GGGATAGGTACCTCTGGAGAC 0.607000 16 29 0 0 1 0 0 HINT3 135114 broad.mit.edu 37 6 126293443 126293443 + Missense_Mutation SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:126293443A>G ENST00000229633.5 + 3 555 c.358A>G c.(358-360)Aga>Gga p.R120G NM_138571.4 NP_612638.3 Q9NQE9 HINT3_HUMAN histidine triad nucleotide binding protein 3 120 HIT. mitochondrion|nucleolus hydrolase activity endometrium(1)|large_intestine(1)|lung(1)|stomach(1) 4 UCEC - Uterine corpus endometrioid carcinoma (4;0.153)|GBM - Glioblastoma multiforme(226;0.0321) CATTCTTGAAAGAAATAATTT 0.333000 32 55 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158641151 158641151 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:158641151G>A ENST00000368148.3 - 12 1761 c.1581C>T c.(1579-1581)gcC>gcT p.A527A SPTA1_ENST00000368147.3_Silent_p.A527A NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 527 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TCTCTTCCTGGGCAGTAAAGG 0.468000 38 36 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133905937 133905937 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:133905937C>T ENST00000220616.4 + 11 2804 c.2764C>T c.(2764-2766)Cct>Tct p.P922S TG_ENST00000377869.1_Missense_Mutation_p.P922S NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 922 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.P922T(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCCCCTAGGTCCTGGCTCCTG 0.512000 7 86 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20683156 20683156 + Silent SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:20683156G>C ENST00000404938.2 + 7 1231 c.579G>C c.(577-579)tcG>tcC p.S193S NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 5 379 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 CTACTTTTTCGATTGGCCTGG 0.428000 27 61 0 0 1 0 0 PLEKHG4B 153478 broad.mit.edu 37 5 181715 181715 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:181715G>A ENST00000283426.6 + 17 3471 c.3421G>A c.(3421-3423)Gca>Aca p.A1141T NM_052909.3 NP_443141.3 Q96PX9 PKH4B_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4B 1141 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3) 11 all cancers(22;0.0253)|Lung(60;0.113) Kidney(1;0.119) CCCTGACTGTGCAGTGATAAG 0.562000 36 84 0 0 1 0 0 MBD6 114785 broad.mit.edu 37 12 57920648 57920648 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:57920648G>A ENST00000355673.3 + 7 2076 c.1720G>A c.(1720-1722)Gag>Aag p.E574K MBD6_ENST00000431731.2_Missense_Mutation_p.E574K NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 574 Pro-rich. chromosome|nucleus chromatin binding|DNA binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1) 31 ACCTCCCCCTGAGCCCCTGCT 0.617000 11 52 0 0 1 0 0 SNAPC2 6618 broad.mit.edu 37 19 7987009 7987009 + Silent SNP G G C rs75251458 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:7987009G>C ENST00000221573.6 + 4 513 c.462G>C c.(460-462)ctG>ctC p.L154L SNAPC2_ENST00000597584.1_5'UTR|SNAPC2_ENST00000595035.1_3'UTR NM_003083.3 NP_003074.1 Q13487 SNPC2_HUMAN small nuclear RNA activating complex, polypeptide 2, 45kDa 154 snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|urinary_tract(1) 6 CTTTGCTCCTGAGCGCCCCTG 0.672000 14 126 0 0 1 0 0 CMIP 80790 broad.mit.edu 37 16 81726769 81726769 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:81726769C>T ENST00000537098.3 + 12 1533 c.1461C>T c.(1459-1461)ctC>ctT p.L487L CMIP_ENST00000398040.4_Silent_p.L334L|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.L393L NM_198390.2 NP_938204.2 Q8IY22 CMIP_HUMAN c-Maf inducing protein 453 cytoplasm|nucleus endometrium(5)|kidney(1)|lung(7) 13 GCAGAGCTCTCGCACATGAGA 0.542000 15 19 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 142004915 142004915 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:142004915C>T ENST00000389484.3 - 5 1443 c.472G>A c.(472-474)Gaa>Aaa p.E158K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 158 EGF-like 2; calcium-binding (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACAGCACATTCATCTTGATCT 0.393000 TSP Lung(27;0.18) 42 78 0 0 1 0 0 HDAC11 79885 broad.mit.edu 37 3 13545693 13545693 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:13545693T>A ENST00000295757.3 + 9 932 c.749T>A c.(748-750)cTg>cAg p.L250Q HDAC11_ENST00000404548.1_Missense_Mutation_p.C118S|HDAC11_ENST00000404040.1_Missense_Mutation_p.L150Q|HDAC11_ENST00000405025.1_Missense_Mutation_p.C90S|HDAC11_ENST00000522202.1_Missense_Mutation_p.L199Q|HDAC11_ENST00000402259.1_Missense_Mutation_p.L84Q|HDAC11_ENST00000437379.2_Missense_Mutation_p.L222Q|HDAC11_ENST00000402271.1_Missense_Mutation_p.L171Q|HDAC11_ENST00000446613.2_Missense_Mutation_p.L58Q|HDAC11_ENST00000433119.1_Missense_Mutation_p.C208S NM_024827.3 NP_079103.2 Q96DB2 HDA11_HUMAN histone deacetylase 11 250 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3) 13 CAGGAGCACCTGCCCGACGTG 0.617000 12 22 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123901010 123901010 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:123901010C>G ENST00000431524.1 + 1 714 c.681C>G c.(679-681)atC>atG p.I227M NM_001004464.1 NP_001004464.1 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, member 8 227 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) TCCTGCGGATCCGCACCTCAG 0.522000 42 74 0 0 1 0 0 CLEC1B 51266 broad.mit.edu 37 12 10145826 10145826 + Missense_Mutation SNP T T A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:10145826T>A ENST00000428126.2 - 7 776 c.507A>T c.(505-507)aaA>aaT p.K169N CLEC1B_ENST00000298527.6_Missense_Mutation_p.K202N|CLEC1B_ENST00000348658.4_Missense_Mutation_p.K169N Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B 202 C-type lectin. cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1) 19 TAGGGTGCATTTTCCCATTAT 0.378000 87 107 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777746 43777746 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:43777746C>A ENST00000389420.3 - 30 4486 c.4487G>T c.(4486-4488)aGg>aTg p.R1496M NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1496 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GTATACATCCCTCTGCTGAAC 0.443000 30 26 1.22384e-17 1.52718e-17 1 1 0 DCHS1 8642 broad.mit.edu 37 11 6651059 6651059 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:6651059G>C ENST00000299441.3 - 11 5290 c.4879C>G c.(4879-4881)Ccg>Gcg p.P1627A NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1627 Cadherin 15. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGCGCGGCGGGGAGCCGTGG 0.652000 21 28 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160287558 160287558 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:160287558C>A ENST00000392783.2 - 10 2505 c.2010G>T c.(2008-2010)atG>atT p.M670I BAZ2B_ENST00000355831.2_Missense_Mutation_p.M670I|BAZ2B_ENST00000343439.5_Intron|BAZ2B_ENST00000392782.1_Missense_Mutation_p.M668I NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 670 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TATTCAGTTTCATTGAAGTTT 0.408000 16 109 4.7546e-09 5.3604e-09 1 1 0 DDX54 79039 broad.mit.edu 37 12 113617090 113617090 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:113617090C>T ENST00000314045.7 - 4 449 c.422G>A c.(421-423)cGg>cAg p.R141Q DDX54_ENST00000306014.5_Missense_Mutation_p.R141Q NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 141 Helicase ATP-binding. estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ACTGCCCGTCCGGGCCATGGC 0.642000 18 13 0 0 1 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101572575 101572575 + Nonsense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:101572575C>G ENST00000326172.5 + 5 1320 c.1205C>G c.(1204-1206)tCa>tGa p.S402* NFKBIZ_ENST00000394054.2_Nonsense_Mutation_p.S302*|NFKBIZ_ENST00000326151.5_Nonsense_Mutation_p.S280* NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 402 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 CTGCCATTCTCAAACATGGGA 0.498000 10 83 0 0 1 0 0 OR4M2 390538 broad.mit.edu 37 15 22369133 22369133 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:22369133G>T ENST00000332663.2 + 1 656 c.558G>T c.(556-558)cgG>cgT p.R186R RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 186 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R186R(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) AGGTTGTCCGGATTGCCTGTG 0.458000 54 221 1.34159e-35 1.84351e-35 1 1 0 CEP68 23177 broad.mit.edu 37 2 65300160 65300160 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:65300160C>T ENST00000537589.1 + 2 1646 c.766C>T c.(766-768)Ctc>Ttc p.L256F CEP68_ENST00000497039.1_Intron|CEP68_ENST00000546106.1_Intron|CEP68_ENST00000377990.2_Intron|CEP68_ENST00000260569.4_Intron|RAB1A_ENST00000494188.1_Intron Q76N32 CEP68_HUMAN centrosomal protein 68kDa 0 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 GGTGTCTTGTCTCTTCCCCCA 0.433000 9 22 0 0 1 0 0 GH2 2689 broad.mit.edu 37 17 61958213 61958213 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:61958213G>T ENST00000332800.7 - 4 508 c.375C>A c.(373-375)aaC>aaA p.N125K GH2_ENST00000456543.2_Missense_Mutation_p.N125K|GH2_ENST00000449787.2_Missense_Mutation_p.N110K|GH2_ENST00000423893.2_Missense_Mutation_p.N125K NM_002059.4|NM_022557.3|NM_022558.3 NP_002050.1|NP_072051.1|NP_072052.1 P01242 SOM2_HUMAN growth hormone 2 125 extracellular region hormone activity p.N125K(1) breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 24 ACACCAGGCTGTTGGCGAAGA 0.617000 99 57 1.07111e-62 1.48935e-62 1 1 0 CNTNAP3 79937 broad.mit.edu 37 9 39178284 39178284 + Missense_Mutation SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:39178284T>C ENST00000297668.6 - 5 685 c.612A>G c.(610-612)atA>atG p.I204M CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I204M|CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I116M|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I204M|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I204M NM_033655.3 NP_387504.2 Q9BZ76 CNTP3_HUMAN contactin associated protein-like 3 204 Laminin G-like 1. cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 24 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TAACGTCTCTTATTGGTTTTA 0.328000 4 181 0 0 1 0 0 TUBB4B 10383 broad.mit.edu 37 9 140137000 140137000 + Silent SNP G G A rs148569376 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:140137000G>A ENST00000340384.4 + 4 478 c.330G>A c.(328-330)gcG>gcA p.A110A NM_006088.5 NP_006079.1 P68371 TBB2C_HUMAN tubulin, beta 4B class IVb 110 'de novo' posttranslational protein folding|cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization cytosol|microtubule GTP binding|GTPase activity|MHC class I protein binding|structural molecule activity|unfolded protein binding CAGAAGGCGCGGAGCTGGTGG 0.582000 20 49 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18242118 18242118 + Splice_Site SNP A A T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:18242118A>T ENST00000377369.2 + 2 187 c.e2-1 SLC39A12_ENST00000377371.3_Splice_Site|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377374.4_Splice_Site NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CCTTTACCACAGAAATTCCTT 0.433000 25 29 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237947849 237947849 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:237947849G>T ENST00000366574.2 + 90 13154 c.12837G>T c.(12835-12837)atG>atT p.M4279I RYR2_ENST00000360064.6_Missense_Mutation_p.M4285I|RYR2_ENST00000542537.1_Missense_Mutation_p.M4263I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 4279 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGAAGGACATGGTCACGGCCT 0.463000 13 23 9.31168e-06 9.86937e-06 1 1 0 SAAL1 113174 broad.mit.edu 37 11 18105280 18105280 + Splice_Site SNP T T A rs144009342 TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:18105280T>A ENST00000524803.1 - 10 1092 c.e10-2 SAAL1_ENST00000529318.1_Intron|SAAL1_ENST00000300013.4_Intron Q96ER3 SAAL1_HUMAN serum amyloid A-like 1 acute-phase response extracellular region binding breast(2)|large_intestine(5)|lung(8) 15 GAAGATCTACTGTATAAACAA 0.358000 22 32 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13183422 13183422 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:13183422G>C ENST00000319217.7 - 19 2891 c.2644C>G c.(2644-2646)Cct>Gct p.P882A MPDZ_ENST00000447879.1_Missense_Mutation_p.P882A|MPDZ_ENST00000546205.1_Missense_Mutation_p.P882A|MPDZ_ENST00000381015.4_Missense_Mutation_p.P882A|MPDZ_ENST00000541718.1_Missense_Mutation_p.P882A|MPDZ_ENST00000381022.2_Missense_Mutation_p.P882A|MPDZ_ENST00000536827.1_Missense_Mutation_p.P882A NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 882 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TGTACCTTAGGAGGAGATGAT 0.398000 12 14 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40368603 40368603 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:40368603G>A ENST00000221347.6 - 28 12752 c.12745C>T c.(12745-12747)Cca>Tca p.P4249S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4249 VWFD 10. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCCCAGCCTGGGGCTCGCCAG 0.647000 5 106 0 0 1 0 0 LILRA4 23547 broad.mit.edu 37 19 54848374 54848374 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:54848374G>T ENST00000291759.4 - 6 1049 c.993C>A c.(991-993)ggC>ggA p.G331G AC008984.2_ENST00000507363.1_RNA NM_012276.3 NP_036408.3 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 331 Ig-like C2-type 4. integral to membrane receptor activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 32 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) TCACCGTGGGGCCCGGCTGCA 0.617000 17 48 1.02788e-11 1.19104e-11 1 1 0 OR56B4 196335 broad.mit.edu 37 11 6129824 6129824 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:6129824G>A ENST00000316529.3 + 1 911 c.816G>A c.(814-816)aaG>aaA p.K272K RP11-290F24.3_ENST00000529961.1_RNA NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGAGAAAAAGATTCCCCTTA 0.512000 30 53 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87679200 87679200 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:87679200G>A ENST00000320005.5 - 6 852 c.805C>T c.(805-807)Cta>Tta p.L269L NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 269 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 TGGATAAATAGCATATCATAA 0.423000 13 44 0 0 1 0 0 VPS13C 54832 broad.mit.edu 37 15 62146686 62146686 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:62146686C>G ENST00000261517.5 - 85 11305 c.11232G>C c.(11230-11232)gtG>gtC p.V3744V VPS13C_ENST00000249837.3_Silent_p.V3701V NM_020821.2 NP_065872.1 Q709C8 VP13C_HUMAN vacuolar protein sorting 13 homolog C (S. cerevisiae) 3744 protein localization NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 TGAGAAGTCTCACTGATGACT 0.408000 5 206 0 0 1 0 0 ZNF419 79744 broad.mit.edu 37 19 58005263 58005263 + Silent SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:58005263A>G ENST00000424930.2 + 5 1570 c.1341A>G c.(1339-1341)cgA>cgG p.R447R AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000354197.4_Intron|ZNF419_ENST00000347466.6_Silent_p.R414R|ZNF419_ENST00000415379.2_Silent_p.R400R|ZNF419_ENST00000221735.7_Silent_p.R446R|ZNF419_ENST00000442920.2_Silent_p.R433R|ZNF419_ENST00000426954.2_Silent_p.R434R NM_001098491.1|NM_024691.3 NP_001091961.1|NP_078967.3 Q96HQ0 ZN419_HUMAN zinc finger protein 419 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) TGCAACATCGAAAAGTTCACA 0.433000 4 190 0 0 1 0 0 NKAPL 222698 broad.mit.edu 37 6 28227978 28227978 + Silent SNP T T C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:28227978T>C ENST00000343684.3 + 1 881 c.829T>C c.(829-831)Tta>Cta p.L277L NM_001007531.1 NP_001007532.1 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 277 breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 TACTATGGATTTAATAGGGCC 0.443000 30 34 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23871925 23871925 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:23871925G>A ENST00000354639.3 + 24 3395 c.2931G>A c.(2929-2931)acG>acA p.T977T STK31_ENST00000428484.1_Silent_p.T977T|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Silent_p.T977T|STK31_ENST00000355870.3_Silent_p.T1000T NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 1000 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 AAATAAAGACGGAGAACTTGG 0.328000 41 96 0 0 1 0 0 IGHV3OR16-8 388255 broad.mit.edu 37 16 33020754 33020754 + RNA SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr16:33020754C>T ENST00000565407.2 + 0 162 RP11-19N8.2_ENST00000567619.1_RNA ACTACATGAGCTGGGTCCGCC 0.562000 97 235 0 0 1 0 0 ULK4 54986 broad.mit.edu 37 3 41977361 41977361 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:41977361C>G ENST00000301831.4 - 4 772 c.310G>C c.(310-312)Gac>Cac p.D104H ULK4_ENST00000420927.1_Missense_Mutation_p.D104H NM_017886.2 NP_060356.2 Q96C45 ULK4_HUMAN unc-51 like kinase 4 104 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTAATCAGGTCAATTCCAAAT 0.353000 27 38 0 0 1 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95522778 95522778 + RNA SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:95522778G>T ENST00000432432.2 - 0 249 NR_040113.1 CACCTCCGCGGCGTCGCCTTT 0.682000 27 46 1.88708e-17 2.3448e-17 1 1 0 LOC645752 645752 broad.mit.edu 37 15 78211240 78211240 + RNA SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr15:78211240C>T ENST00000565869.1 + 0 111 RP11-114H24.2_ENST00000567226.1_RNA GTCCCACAGCCTCTTTTCCTG 0.577000 73 136 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90499867 90499867 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:90499867G>T ENST00000325643.5 + 4 531 c.465G>T c.(463-465)ctG>ctT p.L155L NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 GCTCCCACCTGCCCTTAGGTG 0.637000 12 32 1.5842e-08 1.75888e-08 1 1 0 SDK1 221935 broad.mit.edu 37 7 4152954 4152954 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:4152954G>A ENST00000404826.2 + 24 3607 c.3468G>A c.(3466-3468)ccG>ccA p.P1156P SDK1_ENST00000389531.3_Silent_p.P1156P NM_152744.3 NP_689957.3 Q7Z5N4 SDK1_HUMAN sidekick cell adhesion molecule 1 1156 Fibronectin type-III 5. cell adhesion integral to membrane NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4) 153 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TTGTTGGGCCGAGCCCCTACA 0.547000 24 259 0 0 1 0 0 DDB1 1642 broad.mit.edu 37 11 61081939 61081939 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:61081939C>T ENST00000301764.7 - 13 1827 c.1430G>A c.(1429-1431)aGg>aAg p.R477K DDB1_ENST00000545930.1_5'UTR|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 477 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 AGAGACCAACCTCACCGATGC 0.522000 Nucleotide excision repair (NER) 50 120 0 0 1 0 0 LRRN4 164312 broad.mit.edu 37 20 6032851 6032851 + Missense_Mutation SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr20:6032851C>G ENST00000378858.4 - 2 819 c.595G>C c.(595-597)Gat>Cat p.D199H NM_152611.4 NP_689824.2 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 199 integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 27 GGCGCGCCATCCTCTCCAGCG 0.711000 3 7 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82763657 82763657 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:82763657G>A ENST00000423517.2 - 3 3546 c.3209C>T c.(3208-3210)tCt>tTt p.S1070F PCLO_ENST00000333891.8_Missense_Mutation_p.S1070F NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1016 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AGGATCCTTAGAACCTATGTT 0.428000 10 12 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40931189 40931189 + Missense_Mutation SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:40931189A>G ENST00000313164.9 + 3 445 c.86A>G c.(85-87)cAg>cGg p.Q29R NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 29 TSP type-1 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GTCAACTGCCAGTGGGACTTC 0.433000 26 9 0 0 1 0 0 CSRP2BP 57325 broad.mit.edu 37 20 18163851 18163851 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr20:18163851G>T ENST00000278816.2 + 9 2543 c.1893G>T c.(1891-1893)acG>acT p.T631T CSRP2BP_ENST00000489634.2_Silent_p.T503T|CSRP2BP_ENST00000377681.2_Silent_p.T630T|CSRP2BP_ENST00000435364.2_Silent_p.T631T Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 631 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1) 34 CTCACTGGACGCCGGAGCCCG 0.537000 38 69 2.05212e-20 2.62815e-20 1 1 0 LPA 4018 broad.mit.edu 37 6 160978583 160978583 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:160978583C>A ENST00000447678.1 - 30 4772 c.4652G>T c.(4651-4653)tGc>tTc p.C1551F LPA_ENST00000316300.5_Missense_Mutation_p.C1551F NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4059 Kringle 14. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGGATTCCTGCAGTAGTTCTC 0.478000 24 61 2.79863e-10 3.19219e-10 1 1 0 CEP89 84902 broad.mit.edu 37 19 33444523 33444523 + Nonsense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:33444523G>A ENST00000305768.4 - 4 578 c.490C>T c.(490-492)Cag>Tag p.Q164* CEP89_ENST00000590597.1_Nonsense_Mutation_p.Q164* NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 164 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 GAAAACACCTGATTTCTGTGT 0.468000 22 551 0 0 1 0 0 DDX27 55661 broad.mit.edu 37 20 47858649 47858649 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr20:47858649C>G ENST00000371764.4 + 18 2124 c.2115C>G c.(2113-2115)ctC>ctG p.L705L DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron NM_017895.7 NP_060365.7 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 705 nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TTGAAATCCTCAAGGCGCAGA 0.607000 7 144 0 0 1 0 0 FAM214B 80256 broad.mit.edu 37 9 35105331 35105331 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr9:35105331C>T ENST00000378561.1 - 8 4559 c.1504G>A c.(1504-1506)Gat>Aat p.D502N FAM214B_ENST00000605244.1_Missense_Mutation_p.D502N|FAM214B_ENST00000603301.1_Missense_Mutation_p.D502N|FAM214B_ENST00000378554.2_Intron|FAM214B_ENST00000322813.5_Missense_Mutation_p.D502N|FAM214B_ENST00000378566.1_Missense_Mutation_p.D197N|FAM214B_ENST00000488109.2_Missense_Mutation_p.D502N|FAM214B_ENST00000378557.1_Missense_Mutation_p.D502N Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 502 nucleus AGGCGGATATCTCCATGCAGG 0.587000 3 26 0 0 1 0 0 NPFFR2 10886 broad.mit.edu 37 4 73012715 73012715 + Missense_Mutation SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr4:73012715C>A ENST00000308744.6 + 4 853 c.755C>A c.(754-756)cCt>cAt p.P252H NPFFR2_ENST00000395999.1_Missense_Mutation_p.P153H|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Missense_Mutation_p.P150H|NPFFR2_ENST00000344413.5_3'UTR NM_004885.2 NP_004876.2 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 252 detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) GTGGTCTACCCTTTTAAACCA 0.378000 48 139 2.24722e-20 2.87172e-20 1 1 0 BCOR 54880 broad.mit.edu 37 X 39921470 39921470 + Silent SNP C C A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chrX:39921470C>A ENST00000342274.4 - 10 4610 c.4248G>T c.(4246-4248)ccG>ccT p.P1416P BCOR_ENST00000397354.3_Silent_p.P1416P|BCOR_ENST00000378463.1_Silent_p.P293P|BCOR_ENST00000378455.4_Silent_p.P1398P|BCOR_ENST00000378444.4_Silent_p.P1450P NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1450 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GTGCTTCCGGCGGCATAGGGC 0.617000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 6 3 5.9392e-07 6.43505e-07 1 1 0 MYO3A 53904 broad.mit.edu 37 10 26285423 26285423 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr10:26285423G>T ENST00000265944.5 + 5 474 c.308G>T c.(307-309)tGc>tTc p.C103F MYO3A_ENST00000376301.1_Missense_Mutation_p.C103F|MYO3A_ENST00000543632.1_Missense_Mutation_p.C103F|MYO3A_ENST00000376302.1_Missense_Mutation_p.C103F NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 103 Protein kinase. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GTTTAGCTCTGCAGTGGAGGA 0.348000 4 48 0.00909568 0.00923805 1 1 0 KIAA1522 57648 broad.mit.edu 37 1 33237216 33237216 + Silent SNP C C G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:33237216C>G ENST00000401073.2 + 6 2506 c.2436C>G c.(2434-2436)gtC>gtG p.V812V KIAA1522_ENST00000373480.1_Silent_p.V753V|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.V764V NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 753 Pro-rich. breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CAGAGCTTGTCAGCTCCCCGG 0.642000 6 23 0 0 1 0 0 OR5D13 390142 broad.mit.edu 37 11 55541394 55541394 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:55541394C>T ENST00000361760.1 + 1 481 c.481C>T c.(481-483)Ctc>Ttc p.L161F NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 161 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) CTCCCTGATACTCACATATTT 0.413000 72 139 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126173498 126173498 + Silent SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:126173498G>T ENST00000339582.2 - 9 2746 c.1938C>A c.(1936-1938)atC>atA p.I646I GRM8_ENST00000358373.3_Silent_p.I646I|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.I646I O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 646 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGGAGCATATGATTGTATCTG 0.463000 HNSCC(24;0.065) 50 54 2.43468e-25 3.22416e-25 1 1 0 FAM135B 51059 broad.mit.edu 37 8 139163460 139163460 + Silent SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr8:139163460C>T ENST00000395297.1 - 13 3428 c.3258G>A c.(3256-3258)gaG>gaA p.E1086E NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1086 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CACTGACTTCCTCATCCAACG 0.468000 HNSCC(54;0.14) 18 58 0 0 1 0 0 AURKC 6795 broad.mit.edu 37 19 57746378 57746378 + Silent SNP A A G TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:57746378A>G ENST00000302804.7 + 6 897 c.711A>G c.(709-711)ccA>ccG p.P237P AURKC_ENST00000598785.1_Silent_p.P203P|AURKC_ENST00000448930.1_Silent_p.P203P|AURKC_ENST00000599062.1_Silent_p.P234P|AURKC_ENST00000415300.2_Silent_p.P218P NM_001015878.1 NP_001015878.1 Q9UQB9 AURKC_HUMAN aurora kinase C 237 Protein kinase. cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1) 25 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) TGGGATATCCACCCTTTGAGA 0.527000 19 46 0 0 1 0 0 ZNF527 84503 broad.mit.edu 37 19 37870093 37870093 + Missense_Mutation SNP G G C TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:37870093G>C ENST00000436120.2 + 3 212 c.105G>C c.(103-105)caG>caC p.Q35H ZNF527_ENST00000589615.1_3'UTR|ZNF527_ENST00000587349.1_Missense_Mutation_p.Q35H|ZNF527_ENST00000483919.1_Missense_Mutation_p.Q35H NM_032453.1 NP_115829.1 Q8NB42 ZN527_HUMAN zinc finger protein 527 35 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGCCATCTCAGAAGGATTTAT 0.433000 45 105 0 0 1 0 0 EPDR1 54749 broad.mit.edu 37 7 37960229 37960229 + Missense_Mutation SNP G G T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:37960229G>T ENST00000559325.1 + 1 67 c.48G>T c.(46-48)ttG>ttT p.L16F EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000476620.1_Intron Q9UM22 EPDR1_HUMAN ependymin related 1 0 cell-matrix adhesion extracellular region calcium ion binding breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 ATTTCCTGTTGGCAGCAGTGA 0.587000 5 12 0.0215528 0.0217389 1 1 0 ZRANB2 9406 broad.mit.edu 37 1 71538196 71538196 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:71538196C>T ENST00000370920.3 - 5 638 c.337G>A c.(337-339)Gaa>Aaa p.E113K ZRANB2_ENST00000254821.6_Missense_Mutation_p.E113K NM_203350.2 NP_976225.1 O95218 ZRAB2_HUMAN zinc finger, RAN-binding domain containing 2 113 mRNA processing|RNA splicing nucleus protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1) 15 TCTATATATTCAACATTTTCT 0.289000 39 68 0 0 1 0 0 LRP5L 91355 broad.mit.edu 37 22 25753225 25753225 + Silent SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr22:25753225G>A ENST00000444995.3 - 5 1135 c.435C>T c.(433-435)atC>atT p.I145I LRP5L_ENST00000402785.2_Silent_p.I145I|LRP5L_ENST00000402859.2_Silent_p.I145I A4QPB2 LRP5L_HUMAN low density lipoprotein receptor-related protein 5-like 145 central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2) 6 GCCTCACCTCGATCTTGTCTG 0.657000 26 39 0 0 1 0 0 PLBD1 79887 broad.mit.edu 37 12 14664248 14664248 + Missense_Mutation SNP C C T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr12:14664248C>T ENST00000240617.5 - 8 1784 c.1132G>A c.(1132-1134)Gag>Aag p.E378K NM_024829.5 NP_079105.4 Q6P4A8 PLBL1_HUMAN phospholipase B domain containing 1 378 lipid catabolic process extracellular region hydrolase activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 GGAATTTGCTCCACAATGTAC 0.383000 41 81 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 185987437 185987437 + Frame_Shift_Del DEL C C - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr1:185987437delC ENST00000271588.4 + 34 5652 c.5423delC c.(5422-5424)gafs p.A1808fs HMCN1_ENST00000367492.2_Frame_Shift_Del_p.A1808fs NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 1808 Ig-like C2-type 15. response to stimulus|visual perception basement membrane calcium ion binding 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 TGCATGGCAGCAAATACTGCT 0.398 32 109 --- --- --- --- LHCGR 3973 broad.mit.edu 37 2 48915432 48915432 + Frame_Shift_Del DEL G G - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:48915432delG ENST00000294954.7 - 11 1525 c.1504delC c.(1504-1506)ttfs p.L502fs STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Frame_Shift_Del_p.L475fs|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000344775.3_Frame_Shift_Del_p.L440fs|LHCGR_ENST00000401907.1_Intron NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 502 L -> P (in LHR; Leydig cell hypoplasia type 1; shows reduced cAMP production and ligand binding; receptor trafficking is not affected by the mutation). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) ACACCGACAAGGGGCAACATA 0.428 32 96 --- --- --- --- LOC101927533 101927533 broad.mit.edu 37 2 65738863 65738863 + RNA DEL G G - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:65738863delG ENST00000377977.3 + 0 862 TTTTTTTTTTGTCCAGGAGGC 0.303 4 3 --- --- --- --- MED15P9 285103 broad.mit.edu 37 2 130893080 130893081 + RNA INS - - A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:130893080_130893081insA ENST00000427638.1 + 0 541_542 NR_033903.1 gactccatctcaaaaaaaaaaa 0.564 4 3 --- --- --- --- PLA2R1 22925 broad.mit.edu 37 2 160801441 160801442 + Frame_Shift_Ins INS - - T TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr2:160801441_160801442insT ENST00000283243.7 - 28 4325_4326 c.4119_4120insA c.(4117-4122)aagcttfs p.L1374fs PLA2R1_ENST00000460710.1_5'UTR NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1374 C-type lectin 8. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CATATAAAGCCTTTTTTTTCTT 0.401 8 220 --- --- --- --- FAM86JP 100125556 broad.mit.edu 37 3 125635510 125635510 + RNA DEL G G - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr3:125635510delG ENST00000485843.1 + 0 38 NR_024251.1 TTGCTGCAGAGTTTGCAGCGC 0.731 2 4 --- --- --- --- NSD1 64324 broad.mit.edu 37 5 176637659 176637659 + Frame_Shift_Del DEL A A - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr5:176637659delA ENST00000439151.2 + 5 2304 c.2259delA c.(2257-2259)ccfs p.P753fs NSD1_ENST00000347982.4_Frame_Shift_Del_p.P484fs|NSD1_ENST00000354179.4_Frame_Shift_Del_p.P484fs|NSD1_ENST00000361032.4_Frame_Shift_Del_p.P650fs NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 753 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) CTCTCTCTCCAAAATTCAACC 0.433 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 21 36 --- --- --- --- CCHCR1 54535 broad.mit.edu 37 6 31110739 31110739 + Splice_Site DEL C C - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr6:31110739delC ENST00000396268.3 - 17 2680 c.e17+1 CCHCR1_ENST00000376266.5_Splice_Site|CCHCR1_ENST00000396263.2_Splice_Site|CCHCR1_ENST00000451521.2_Splice_Site NM_001105563.1|NM_001105564.1 NP_001099033.1|NP_001099034.1 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1) 23 TGGCCCAAGACCTTTTATGGA 0.542 181 224 --- --- --- --- SCIN 85477 broad.mit.edu 37 7 12675735 12675735 + Frame_Shift_Del DEL G G - rs76010472 byFrequency TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:12675735delG ENST00000297029.5 + 10 1486 c.1385delG c.(1384-1386)cgfs p.R462fs SCIN_ENST00000445618.2_Frame_Shift_Del_p.R215fs|SCIN_ENST00000519209.1_Frame_Shift_Del_p.R215fs NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 462 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CAGTTGGATCGGTCCCTTGGA 0.478 10 24 --- --- --- --- CCT6P1 643253 broad.mit.edu 37 7 65225141 65225141 + RNA DEL C C - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:65225141delC ENST00000442266.1 + 0 1034 SNORA15_ENST00000384058.1_RNA TAAGGTTTTTCATAGCATATC 0.383 13 20 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66767610 66767611 + RNA INS - - G rs71293166 by1000genomes TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:66767610_66767611insG ENST00000416602.2 + 0 3_4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) CACCGGACTGCTTTTTTTTTTT 0.545 4 5 --- --- --- --- STAG3L2 442582 broad.mit.edu 37 7 74300557 74300564 + RNA DEL AGAGCTCC AGAGCTCC - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:74300557_74300564delAGAGCTCC ENST00000423186.1 - 0 573_580 P0CL84 ST3L2_HUMAN nucleus binding p.E82fs*32(2) breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1) 5 CGGCCAGTGAAGAGCTCCAGGCGTGCGG 0.572 2 4 --- --- --- --- MGAM 8972 broad.mit.edu 37 7 141765242 141765242 + Frame_Shift_Del DEL G G - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:141765242delG ENST00000475668.2 + 38 4646 c.4592delG c.(4591-4593)tgfs p.W1531fs MGAM_ENST00000549489.2_Frame_Shift_Del_p.W1531fs O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1531 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACGGCCGCATGGGATCAGCTG 0.617 10 17 --- --- --- --- TRBV6-8 28599 broad.mit.edu 37 7 142124559 142124559 + RNA DEL G G - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr7:142124559delG ENST00000390376.2 - 0 6 AGGAGCCCGAGGCTCATGGCA 0.597 48 172 --- --- --- --- MRPL23 6150 broad.mit.edu 37 11 1968600 1968600 + Frame_Shift_Del DEL G G - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:1968600delG ENST00000381514.3 + 1 30 c.8delG c.(7-9)cgfs p.R3fs MRPL23_ENST00000397294.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000397297.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000397298.3_Frame_Shift_Del_p.R3fs|MRPL23_ENST00000381519.1_Frame_Shift_Del_p.R3fs Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 3 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|lung(1)|ovary(1) 4 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) GCCATGGCGCGGAATGTGGTG 0.766 2 4 --- --- --- --- MMP26 56547 broad.mit.edu 37 11 5010886 5010886 + Frame_Shift_Del DEL C C - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:5010886delC ENST00000380390.1 + 3 324 c.108delC c.(106-108)ttfs p.F36fs MMP26_ENST00000300762.1_Frame_Shift_Del_p.F36fs|MMP26_ENST00000477339.1_3'UTR Q9NRE1 MMP26_HUMAN matrix metallopeptidase 26 36 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1) 22 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) AGGGCTATTTCCATCAATTTT 0.468 8 14 --- --- --- --- OR4A5 81318 broad.mit.edu 37 11 51412003 51412003 + Frame_Shift_Del DEL C C - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr11:51412003delC ENST00000319760.6 - 1 445 c.393delG c.(391-393)ttfs p.L131fs NM_001005272.3 NP_001005272.3 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, member 5 131 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 49 all_lung(304;0.236) TCATGATGGTCAAATAGTGCA 0.463 43 63 --- --- --- --- TBC1D3P5 440419 broad.mit.edu 37 17 25756988 25756988 + RNA DEL C C - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr17:25756988delC ENST00000586223.1 + 0 1822 NR_033892.1 GGGCAGCAGACCACTCTCTGG 0.662 2 4 --- --- --- --- ZNF546 339327 broad.mit.edu 37 19 40521432 40521434 + In_Frame_Del DEL AAG AAG - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:40521432_40521434delAAG ENST00000347077.4 + 7 2471_2473 c.2255_2257delAAG c.(2254-2259)aaa>a p.KE752del ZNF546_ENST00000600094.1_In_Frame_Del_p.KE726del|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 752 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TATAGCTGTAAAGAATGTGGGAA 0.394 25 84 --- --- --- --- NLRP7 199713 broad.mit.edu 37 19 55451373 55451373 + Frame_Shift_Del DEL C C - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr19:55451373delC ENST00000588756.1 - 6 1300 c.814delG c.(814-816)acfs p.D272fs NLRP7_ENST00000590030.1_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000340844.2_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000328092.5_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000448121.2_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000592784.1_Frame_Shift_Del_p.D272fs|NLRP7_ENST00000446217.1_Frame_Shift_Del_p.D300fs Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 272 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TTCTCCCAGTCCCCGCAGATG 0.607 30 71 --- --- --- --- C22orf43 51233 broad.mit.edu 37 22 23959767 23959769 + In_Frame_Del DEL CAT CAT - TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 Untested Somatic Phase_I WXS none Illumina GAIIx fc27f950-d674-40b2-b865-bcedd7cc5005 cc245755-32f3-409b-87e4-82e919672f86 g.chr22:23959767_23959769delCAT ENST00000317749.5 - 7 809_811 c.512_514delATG c.(511-516)gcc>g p.DA171del NM_016449.3 NP_057533.2 Q6PGQ1 CV043_HUMAN chromosome 22 open reading frame 43 171 Asp-rich. endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1) 11 CTTACCTGGGcatcatcatcatc 0.433 7 121 --- --- --- ---