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 RBBP8 5932 broad.mit.edu 37 18 20581688 20581688 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:20581688A>G ENST00000399722.2 + 15 2634 c.2283A>G c.(2281-2283)ctA>ctG p.L761L RBBP8_ENST00000360790.5_Silent_p.L766L|RBBP8_ENST00000399725.2_Silent_p.L761L|RBBP8_ENST00000327155.5_Silent_p.L761L NM_203291.1 NP_976036.1 Q99708 COM1_HUMAN retinoblastoma binding protein 8 761 cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter nucleus damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 24 all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19) OV - Ovarian serous cystadenocarcinoma(1;0.00196) CAAAGAAACTACACAGTAAGA 0.373000 Homologous recombination 8 16 0 0 0.003080 0 0 NASP 4678 broad.mit.edu 37 1 46073334 46073334 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:46073334C>A ENST00000350030.3 + 6 838 c.751C>A c.(751-753)Caa>Aaa p.Q251K NASP_ENST00000402363.3_Missense_Mutation_p.Q253K|NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.Q187K|NASP_ENST00000351223.3_Intron NM_002482.3 NP_002473.2 P49321 NASP_HUMAN nuclear autoantigenic sperm protein (histone-binding) 251 Glu-rich (acidic). blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport cytoplasm|nucleus Hsp90 protein binding breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 17 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211) AACTGATGTCCAAGAAGAGTG 0.478000 3 16 2.56e-06 2.64951e-06 0.009096 1 0 SCN2A 6326 broad.mit.edu 37 2 166231239 166231239 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:166231239T>G ENST00000375437.2 + 22 4307 c.4017T>G c.(4015-4017)aaT>aaG p.N1339K SCN2A_ENST00000357398.3_Missense_Mutation_p.N1339K|SCN2A_ENST00000283256.6_Missense_Mutation_p.N1339K|SCN2A_ENST00000375427.2_Missense_Mutation_p.N1339K NM_001040142.1 NP_001035232.1 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 1339 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CTATCATGAATGTACTTCTGG 0.363000 13 18 0 0 0.004007 0 0 CHD6 84181 broad.mit.edu 37 20 40049605 40049605 + Silent SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:40049605T>A ENST00000373233.3 - 31 5847 c.5670A>T c.(5668-5670)gtA>gtT p.V1890V NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1890 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9) 129 Myeloproliferative disorder(115;0.00425) TGAGATGCAATACCTCTGGCC 0.483000 23 20 0 0 0.003954 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99129564 99129564 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:99129564A>C ENST00000394170.2 + 7 2463 c.2212A>C c.(2212-2214)Act>Cct p.T738P ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.T738P|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.T738P NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 738 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCATTACAGAACTCATACAGC 0.398000 30 32 0 0 0.003271 0 0 HTR2A 3356 broad.mit.edu 37 13 47409473 47409473 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:47409473G>A ENST00000378688.4 - 3 1046 c.915C>T c.(913-915)tcC>tcT p.S305S HTR2A_ENST00000543956.1_Silent_p.S221S|HTR2A_ENST00000542664.1_Silent_p.S305S P28223 5HT2A_HUMAN 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled 305 ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGCCTGTGTAGGACCCTGGCT 0.522000 6 4 0 0 0.001168 0 0 WIF1 11197 broad.mit.edu 37 12 65514281 65514281 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:65514281A>G ENST00000286574.4 - 2 578 c.204T>C c.(202-204)caT>caC p.H68H NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 68 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) TTCTGAAATCATGTGTAAAAG 0.378000 T HMGA2 pleomorphic salivary gland adenoma 20 19 0 0 0.004656 0 0 BRI3BP 140707 broad.mit.edu 37 12 125497182 125497182 + Splice_Site SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:125497182G>A ENST00000341446.8 + 2 407 c.316G>A c.(316-318)Gtc>Atc p.V106I NM_080626.5 NP_542193.3 Q8WY22 BRI3B_HUMAN BRI3 binding protein 106 integral to membrane|mitochondrial outer membrane large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) TGGACTTGACGGTAGGTGTAG 0.488000 25 112 0 0 0.009535 0 0 ANKRD50 57182 broad.mit.edu 37 4 125590169 125590169 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:125590169G>C ENST00000504087.1 - 4 5300 c.4263C>G c.(4261-4263)ttC>ttG p.F1421L ANKRD50_ENST00000515641.1_Missense_Mutation_p.F1242L NM_020337.2 NP_065070.1 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1421 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 TTTTATAGTTGAAGCTAGGGT 0.383000 4 4 0 0 0.009096 0 0 ESPNP 284729 broad.mit.edu 37 1 17026395 17026395 + RNA SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:17026395C>G ENST00000492551.1 - 0 1290 NR_026567.1 ACCAGCGTCTCGCCGGGGCAG 0.786000 4 6 0 0 0.000602 0 0 TNFSF10 8743 broad.mit.edu 37 3 172227013 172227013 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:172227013A>G ENST00000241261.2 - 4 534 c.412T>C c.(412-414)Tct>Cct p.S138P TNFSF10_ENST00000420541.2_Intron NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 138 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TTACTTGGAGAAGACAATGTG 0.358000 5 28 0 0 0.001984 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519130 113519130 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:113519130T>G ENST00000284601.3 - 4 2085 c.2017A>C c.(2017-2019)Aca>Cca p.T673P NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 673 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 ATATGCTCTGTTATGTTTGTC 0.378000 43 49 0 0 0.014410 0 0 FRYL 285527 broad.mit.edu 37 4 48577219 48577219 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:48577219T>C ENST00000358350.4 - 25 3365 c.2761A>G c.(2761-2763)Ata>Gta p.I921V FRYL_ENST00000507711.1_Missense_Mutation_p.I921V|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Missense_Mutation_p.I921V|FRYL_ENST00000537810.1_Missense_Mutation_p.I921V NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 921 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ATTGGAACTATGTGCTTAAAC 0.398000 5 28 0 0 0.000602 0 0 MFSD11 79157 broad.mit.edu 37 17 74737129 74737129 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:74737129C>G ENST00000588460.1 + 3 2285 c.243C>G c.(241-243)gcC>gcG p.A81A MFSD11_ENST00000590514.1_Silent_p.A81A|MFSD11_ENST00000336509.4_Silent_p.A81A|MFSD11_ENST00000593181.1_Silent_p.A81A|MFSD11_ENST00000355954.3_Silent_p.A81A|MFSD11_ENST00000586622.1_Silent_p.A81A NM_001242534.1 NP_001229463.1 O43934 MFS11_HUMAN major facilitator superfamily domain containing 11 81 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 CTATGTTTGCCAGTGGTTTAT 0.363000 26 41 0 0 0.005443 0 0 CARS 833 broad.mit.edu 37 11 3026647 3026647 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:3026647C>T ENST00000397114.3 - 20 2263 c.1887G>A c.(1885-1887)gtG>gtA p.V629V CARS_ENST00000401769.3_Silent_p.V652V|CARS_ENST00000397111.5_Silent_p.V639V|CARS_ENST00000278224.9_Silent_p.V639V|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000380525.4_Silent_p.V722V P49589 SYCC_HUMAN cysteinyl-tRNA synthetase 639 cysteinyl-tRNA aminoacylation cytoplasm|cytosol ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|tRNA binding CARS/ALK(5) central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1) 31 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218) L-Cysteine(DB00151) CTACCAGTTTCACCACTGTGG 0.493000 T ALK ALCL 30 39 0 0 0.003755 0 0 MAST2 23139 broad.mit.edu 37 1 46501315 46501315 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:46501315G>C ENST00000361297.2 + 29 5257 c.4974G>C c.(4972-4974)tgG>tgC p.W1658C MAST2_ENST00000372009.2_Missense_Mutation_p.W1468C NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1658 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) TGTGGTCCTGGAAATCCCTTA 0.572000 18 49 0 0 0.014323 0 0 PPCDC 60490 broad.mit.edu 37 15 75336745 75336745 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:75336745G>A ENST00000342932.3 + 4 394 c.250G>A c.(250-252)Gac>Aac p.D84N PPCDC_ENST00000567336.1_Missense_Mutation_p.D52N|PPCDC_ENST00000564923.1_Intron|PPCDC_ENST00000563393.1_5'UTR|PPCDC_ENST00000568649.1_Intron NM_021823.3 NP_068595.3 Q96CD2 COAC_HUMAN phosphopantothenoylcysteine decarboxylase 84 coenzyme A biosynthetic process|pantothenate metabolic process cytosol phosphopantothenoylcysteine decarboxylase activity breast(1)|cervix(1) 2 GAGCCGCTCTGACCCAGTTCT 0.587000 44 36 0 0 0.014410 0 0 CREBBP 1387 broad.mit.edu 37 16 3900861 3900861 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:3900861C>T ENST00000262367.5 - 2 1044 c.235G>A c.(235-237)Ggc>Agc p.G79S CREBBP_ENST00000382070.3_Missense_Mutation_p.G79S NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 79 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ATACTAGAGCCGCTGCCTCCT 0.542000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 21 62 0 0 0.014323 0 0 PRDM9 56979 broad.mit.edu 37 5 23527083 23527083 + Missense_Mutation SNP G G C rs112192848 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:23527083G>C ENST00000296682.3 + 11 2068 c.1886G>C c.(1885-1887)aGa>aCa p.R629T NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 629 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 CACCAGAGGAGACACACAGGG 0.612000 HNSCC(3;0.000094) 5 181 0 0 0.000602 0 0 KATNB1 10300 broad.mit.edu 37 16 57786831 57786831 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:57786831T>C ENST00000379661.3 + 10 1238 c.846T>C c.(844-846)aaT>aaC p.N282N NM_005886.2 NP_005877.2 Q9BVA0 KTNB1_HUMAN katanin p80 (WD repeat containing) subunit B 1 282 Interaction with centrosomes.|Interaction with dynein (By similarity). cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting katanin complex|microtubule|spindle pole microtubule binding|protein heterodimerization activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_neural(199;0.223) CCATCTGCAATGACCAGTTGG 0.667000 21 58 0 0 0.007291 0 0 LRP1 4035 broad.mit.edu 37 12 57598266 57598266 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:57598266C>T ENST00000243077.3 + 71 11491 c.11025C>T c.(11023-11025)ggC>ggT p.G3675G NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3675 LDL-receptor class A 29. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGTGCGATGGCGAGGATGACT 0.632000 30 107 0 0 0.013726 0 0 RALGAPA1 253959 broad.mit.edu 37 14 36277976 36277976 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:36277976C>T ENST00000258840.6 - 1 456 c.66G>A c.(64-66)aaG>aaA p.K22K RALGAPA1_ENST00000307138.6_Silent_p.K22K|RALGAPA1_ENST00000389698.3_Silent_p.K22K|RALGAPA1_ENST00000382366.3_Silent_p.K22K NM_001283044.1 NP_001269973.1 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 (catalytic) 22 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TCAGTGCGTCCTTCTTGGTGT 0.642000 28 25 0 0 0.004289 0 0 DMWD 1762 broad.mit.edu 37 19 46290118 46290118 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:46290118G>T ENST00000270223.6 - 3 681 c.636C>A c.(634-636)gaC>gaA p.D212E DMWD_ENST00000601370.1_5'UTR|DMWD_ENST00000377735.3_Missense_Mutation_p.D212E NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 212 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) CCTTGGTCTTGTCGATCAACC 0.582000 14 32 1.5842e-08 1.65893e-08 0.001855 1 0 NPHP3 27031 broad.mit.edu 37 3 132408036 132408036 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:132408036T>A ENST00000337331.5 - 20 2851 c.2765A>T c.(2764-2766)tAc>tTc p.Y922F NPHP3_ENST00000326682.8_3'UTR NM_153240.4 NP_694972.3 Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 922 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TGAATCGAAGTATTCTGTTGC 0.408000 38 30 0 0 0.010771 0 0 SCFD2 152579 broad.mit.edu 37 4 54232001 54232001 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:54232001C>A ENST00000401642.3 - 1 241 c.108G>T c.(106-108)ctG>ctT p.L36L SCFD2_ENST00000388940.4_Silent_p.L36L NM_152540.3 NP_689753.2 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 36 protein transport|vesicle docking involved in exocytosis breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 30 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) AGCCCCAGTGCAGGCTCTCGG 0.652000 67 64 1.43161e-34 1.64672e-34 0.014410 1 0 HIPK1 204851 broad.mit.edu 37 1 114512680 114512680 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:114512680G>A ENST00000369558.1 + 14 3106 c.2874G>A c.(2872-2874)ctG>ctA p.L958L HIPK1_ENST00000369561.4_Silent_p.L924L|HIPK1_ENST00000369554.2_Silent_p.L913L|HIPK1_ENST00000426820.2_Silent_p.L958L|HIPK1_ENST00000369553.1_Silent_p.L564L|HIPK1_ENST00000369559.4_Silent_p.L958L|HIPK1_ENST00000340480.4_Silent_p.L584L|HIPK1_ENST00000406344.1_Silent_p.L564L|HIPK1_ENST00000369555.2_Silent_p.L913L Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 958 Interaction with TP53.|Required for localization to nuclear speckles (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGATACCCTGAGTGCTCTCC 0.507000 49 103 0 0 0.014410 0 0 ZNF485 220992 broad.mit.edu 37 10 44112556 44112556 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:44112556G>A ENST00000361807.3 + 5 1259 c.1065G>A c.(1063-1065)caG>caA p.Q355Q ZNF485_ENST00000374435.3_Silent_p.Q355Q|ZNF485_ENST00000374437.2_Silent_p.Q264Q NM_145312.3 NP_660355.2 Q8NCK3 ZN485_HUMAN zinc finger protein 485 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 AACCGTATCAGTGTCGTGACT 0.428000 17 69 0 0 0.008871 0 0 GREB1 9687 broad.mit.edu 37 2 11758611 11758611 + Missense_Mutation SNP C C T rs71446422 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:11758611C>T ENST00000381486.2 + 22 3910 c.3610C>T c.(3610-3612)Ctc>Ttc p.L1204F GREB1_ENST00000234142.5_Missense_Mutation_p.L1204F|GREB1_ENST00000396123.1_Missense_Mutation_p.L202F NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1204 Ser-rich. integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) CGACTGTAGCCTCAGGACCGG 0.701000 20 19 0 0 0.012319 0 0 LAMA3 3909 broad.mit.edu 37 18 21485588 21485588 + Splice_Site SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:21485588G>T ENST00000313654.9 + 52 6959 c.6718G>T c.(6718-6720)Gaa>Taa p.E2240* LAMA3_ENST00000269217.6_Splice_Site_p.E631*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Splice_Site_p.E575*|LAMA3_ENST00000399516.3_Splice_Site_p.E2184* NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2240 Domain II and I. 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) GCTAAAGCAAGGTATTAGGGG 0.438000 3 19 0.00909568 0.00924138 0.009096 1 0 LRP1 4035 broad.mit.edu 37 12 57572754 57572754 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:57572754G>T ENST00000243077.3 + 28 5154 c.4688G>T c.(4687-4689)tGc>tTc p.C1563F NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1563 EGF-like 7. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACCGTGTCCTGCGCCTGCCCC 0.632000 87 119 1.39691e-52 1.64517e-52 0.014410 1 0 HPS3 84343 broad.mit.edu 37 3 148889891 148889891 + Nonsense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:148889891C>G ENST00000296051.2 + 17 3037 c.2897C>G c.(2896-2898)tCa>tGa p.S966* HPS3_ENST00000460120.1_Nonsense_Mutation_p.S801* NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 966 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) GAAACATTGTCAATTGTTGCT 0.358000 Hermansky-Pudlak syndrome 22 14 0 0 0.003330 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068609 103068609 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:103068609A>G ENST00000264260.2 + 12 2357 c.1768A>G c.(1768-1770)Act>Gct p.T590A IL18RAP_ENST00000409369.1_Missense_Mutation_p.T448A NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 590 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AACAGAAACCACTGGGAGGAG 0.512000 11 33 0 0 0.002450 0 0 SCN4A 6329 broad.mit.edu 37 17 62021113 62021113 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:62021113C>T ENST00000578147.1 - 22 4086 c.4010G>A c.(4009-4011)cGg>cAg p.R1337Q SCN4A_ENST00000435607.1_Missense_Mutation_p.R1337Q P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 1337 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) TACCTGGGGCCGGGGAATTGG 0.552000 4 13 0 0 0.001168 0 0 HRASLS5 117245 broad.mit.edu 37 11 63233662 63233662 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:63233662T>C ENST00000540857.1 - 5 769 c.637A>G c.(637-639)Atc>Gtc p.I213V HRASLS5_ENST00000301790.4_Missense_Mutation_p.I223V|HRASLS5_ENST00000539221.1_Missense_Mutation_p.I223V NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 223 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TACTGCACGATCTTGTTGACC 0.527000 17 46 0 0 0.006122 0 0 HIST1H2AG 8969 broad.mit.edu 37 6 27101228 27101228 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:27101228G>A ENST00000359193.2 + 1 397 c.378G>A c.(376-378)aaG>aaA p.K126K NM_021064.4 NP_066408.1 P0C0S8 H2A1_HUMAN histone cluster 1, H2ag 126 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1) 17 GCCACCACAAGGCGAAGGGCA 0.522000 32 61 0 0 0.004289 0 0 EDEM2 55741 broad.mit.edu 37 20 33735053 33735053 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:33735053G>A ENST00000374492.3 - 1 114 c.9C>T c.(7-9)ttC>ttT p.F3F EDEM2_ENST00000374491.3_Silent_p.F3F|EDEM2_ENST00000540582.1_Intron|EDEM2_ENST00000542871.1_5'UTR NM_018217.2 NP_060687.2 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 2 3 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) TGAGCAGCCGGAAAGGCATAG 0.677000 49 34 0 0 0.014410 0 0 RPS7 6201 broad.mit.edu 37 2 3623453 3623453 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:3623453G>A ENST00000407445.3 + 3 169 c.122G>A c.(121-123)aGg>aAg p.R41K RPS7_ENST00000406376.1_Missense_Mutation_p.R41K|RPS7_ENST00000403564.1_Missense_Mutation_p.R41K|RPS7_ENST00000304921.5_Missense_Mutation_p.R41K P62081 RS7_HUMAN ribosomal protein S7 41 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription 90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome protein binding|RNA binding|structural constituent of ribosome endometrium(1)|lung(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208) GCTCAGCTCAGGGAGCTGAAT 0.637000 7 17 0 0 0.006214 0 0 JUNB 3726 broad.mit.edu 37 19 12903008 12903008 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:12903008A>C ENST00000302754.4 + 1 699 c.423A>C c.(421-423)aaA>aaC p.K141N NM_002229.2 NP_002220.1 P17275 JUNB_HUMAN jun B proto-oncogene 141 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|kidney(1)|lung(3) 6 GCTTTGTCAAAGCCCTGGACG 0.711000 6 13 0 0 0.001168 0 0 SYT2 127833 broad.mit.edu 37 1 202569525 202569525 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:202569525C>T ENST00000367267.1 - 7 1071 c.879G>A c.(877-879)gaG>gaA p.E293E SYT2_ENST00000367268.4_Silent_p.E293E NM_001136504.1 NP_001129976.1 Q8N9I0 SYT2_HUMAN synaptotagmin II 293 C2 2.|Phospholipid binding (By similarity). neurotransmitter secretion cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane protein binding|transporter activity NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(75;0.169) Botulinum Toxin Type B(DB00042) GGTTCTTAGCCTCCAGGATGC 0.617000 OREG0014101 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 55 0 0 0.014410 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499615 104499615 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:104499615A>G ENST00000361820.3 - 1 1247 c.647T>C c.(646-648)cTg>cCg p.L216P NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 216 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TGGAATGTGCAGGACTAAGCT 0.627000 38 110 0 0 0.014410 0 0 TNFRSF1B 7133 broad.mit.edu 37 1 12251945 12251945 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:12251945G>A ENST00000376259.3 + 4 511 c.422G>A c.(421-423)cGc>cAc p.R141H TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.R141H NM_001066.2 NP_001057.1 P20333 TNR1B_HUMAN tumor necrosis factor receptor superfamily, member 1B 141 R -> P (in Ref. 15; AAA63262). apoptosis extracellular region|integral to membrane|membrane raft|plasma membrane tumor necrosis factor receptor activity central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Ovarian(185;0.249) Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284) Etanercept(DB00005)|Infliximab(DB00065) GCGCCGCTGCGCAAGTGCCGC 0.687000 69 59 0 0 0.014410 0 0 TFF1 7031 broad.mit.edu 37 21 43786556 43786556 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr21:43786556T>C ENST00000291527.2 - 1 147 c.49A>G c.(49-51)Atg>Gtg p.M17V NM_003225.2 NP_003216.1 P04155 TFF1_HUMAN trefoil factor 1 17 carbohydrate metabolic process|response to estradiol stimulus growth factor activity cervix(1)|lung(1) 2 AGGGCCAGCATGGACACCAGG 0.667000 20 46 0 0 0.003330 0 0 ERCC2 2068 broad.mit.edu 37 19 45867687 45867687 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:45867687T>C ENST00000391945.4 - 8 790 c.713A>G c.(712-714)aAc>aGc p.N238S ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S|ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 238 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.N238S(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CTCACCAATGTTGTGGGCCTC 0.637000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 15 39 0 0 0.003163 0 0 DHRS4L1 728635 broad.mit.edu 37 14 24518021 24518021 + RNA SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:24518021G>C ENST00000558293.1 + 0 668 NR_102693.1 CAGCAGGATGGTGAGGAAGGG 0.547000 17 109 0 0 0.006320 0 0 SUPT16H 11198 broad.mit.edu 37 14 21834657 21834657 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:21834657G>T ENST00000216297.2 - 8 1325 c.987C>A c.(985-987)gtC>gtA p.V329V NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 329 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding p.V329V(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CCACGTCCATGACAGCGTTAT 0.348000 12 85 4.7546e-09 4.99065e-09 0.004007 1 0 C9orf152 401546 broad.mit.edu 37 9 112963549 112963549 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:112963549G>T ENST00000400613.4 - 2 1008 c.399C>A c.(397-399)gaC>gaA p.D133E C9orf152_ENST00000473442.1_Intron NM_001012993.2 NP_001013011.2 Q5JTZ5 CI152_HUMAN chromosome 9 open reading frame 152 133 NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 GATGACTGGTGTCCTGGGGGG 0.557000 31 129 2.51541e-25 2.84909e-25 0.004878 1 0 PLEKHG3 26030 broad.mit.edu 37 14 65203599 65203599 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:65203599C>G ENST00000247226.7 + 11 1514 c.1206C>G c.(1204-1206)ctC>ctG p.L402L PLEKHG3_ENST00000394691.1_Silent_p.L458L NM_015549.1 NP_056364.1 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 3 458 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) TCAGGCAACTCAACGAGAAAG 0.617000 27 84 0 0 0.013726 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74835181 74835181 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:74835181G>A ENST00000370895.1 + 18 1917 c.1882G>A c.(1882-1884)Gct>Act p.A628T FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.A628T|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A641T|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A628T|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A527T Q59H18 TNI3K_HUMAN 527 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding GTTTGTGGGTGCTTGCTTGAA 0.478000 26 61 0 0 0.010818 0 0 ANKRD28 23243 broad.mit.edu 37 3 15727600 15727600 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:15727600T>G ENST00000399451.2 - 20 2355 c.1988A>C c.(1987-1989)aAc>aCc p.N663T ANKRD28_ENST00000497037.1_5'UTR|ANKRD28_ENST00000383777.1_Missense_Mutation_p.N696T NM_001195098.1|NM_001195099.1|NM_015199.3 NP_001182027.1|NP_001182028.1|NP_056014.2 O15084 ANR28_HUMAN ankyrin repeat domain 28 663 nucleoplasm protein binding breast(2)|endometrium(1)|large_intestine(2)|prostate(1) 6 TGTGTGCCCGTTGAGAACAGA 0.468000 5 12 0 0 0.001168 0 0 SCN9A 6335 broad.mit.edu 37 2 167056069 167056069 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:167056069T>C ENST00000303354.6 - 27 5423 c.5083A>G c.(5083-5085)Att>Gtt p.I1695V SCN9A_ENST00000409435.1_Missense_Mutation_p.I1694V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Missense_Mutation_p.I1683V|SCN9A_ENST00000375387.4_Missense_Mutation_p.I1695V Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 1694 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) GAGGTTGTAATTTGGAACAGG 0.408000 34 95 0 0 0.008740 0 0 B3GNT1 11041 broad.mit.edu 37 11 66114948 66114948 + Silent SNP C C G rs146812867 byFrequency TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:66114948C>G ENST00000311181.4 - 1 215 c.69G>C c.(67-69)gcG>gcC p.A23A NM_006876.2 NP_006867.1 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1 23 poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 12 GCTGCAGCATCGCCACCAGCA 0.647000 17 23 0 0 0.004990 0 0 MAPK4 5596 broad.mit.edu 37 18 48255680 48255680 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:48255680G>A ENST00000400384.2 + 6 2256 c.1220G>A c.(1219-1221)cGc>cAc p.R407H MAPK4_ENST00000592595.1_3'UTR|MAPK4_ENST00000540640.1_Missense_Mutation_p.R196H NM_002747.3 NP_002738.2 P31152 MK04_HUMAN mitogen-activated protein kinase 4 407 cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) AGCTCCGAGCGCTTCCTAGAG 0.692000 14 9 0 0 0.004990 0 0 KCTD8 386617 broad.mit.edu 37 4 44177154 44177154 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:44177154T>C ENST00000360029.3 - 2 1358 c.1075A>G c.(1075-1077)Agt>Ggt p.S359G NM_198353.2 NP_938167.1 Q6ZWB6 KCTD8_HUMAN potassium channel tetramerization domain containing 8 359 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4) 41 CTGTCACAACTGGAAGTGGAG 0.468000 HNSCC(17;0.042) 17 38 0 0 0.007413 0 0 ACP1 52 broad.mit.edu 37 2 275176 275176 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:275176C>T ENST00000272067.6 + 4 364 c.268C>T c.(268-270)Cta>Tta p.L90L ACP1_ENST00000272065.5_Silent_p.L90L|ACP1_ENST00000484464.1_3'UTR NM_007099.3 NP_009030.1 P24666 PPAC_HUMAN acid phosphatase 1, soluble 90 cytoplasm|internal side of plasma membrane|nucleus|soluble fraction acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 12 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236) all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127) TGATTATATACTATGTATGGA 0.343000 4 19 0 0 0.009096 0 0 CDK19 23097 broad.mit.edu 37 6 111136211 111136211 + Splice_Site SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:111136211C>T ENST00000368911.3 - 1 308 c.e1+1 CDK19_ENST00000497709.1_Intron|CDK19_ENST00000323817.3_Intron NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 CCTGCTCTTACCCATCTTTCC 0.682000 43 77 0 0 0.014410 0 0 STK4 6789 broad.mit.edu 37 20 43607147 43607147 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:43607147A>T ENST00000372806.3 + 3 275 c.180A>T c.(178-180)caA>caT p.Q60H STK4_ENST00000372801.1_Missense_Mutation_p.Q60H|STK4_ENST00000499879.2_Missense_Mutation_p.Q60H|STK4_ENST00000396731.4_Missense_Mutation_p.Q60H NM_006282.2 NP_006273.1 Q13043 STK4_HUMAN serine/threonine kinase 4 60 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) CTATTAAGCAAGTTCCTGTGG 0.413000 11 28 0 0 0.001855 0 0 FAT2 2196 broad.mit.edu 37 5 150947267 150947267 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:150947267T>A ENST00000261800.5 - 1 1238 c.1226A>T c.(1225-1227)aAt>aTt p.N409I NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 409 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) AGTTCGAGCATTAAGTTTAAA 0.537000 30 9 0 0 0.012213 0 0 SLC1A4 6509 broad.mit.edu 37 2 65248205 65248205 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:65248205C>T ENST00000234256.3 + 8 1767 c.1524C>T c.(1522-1524)ccC>ccT p.P508P SLC1A4_ENST00000531327.1_Silent_p.P210P NM_003038.4 NP_003029.2 P43007 SATT_HUMAN solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 508 cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1) 13 L-Alanine(DB00160) AGACATCGCCCCTGGTGACAC 0.587000 21 105 0 0 0.003330 0 0 RIMS2 9699 broad.mit.edu 37 8 105263981 105263981 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:105263981C>T ENST00000507740.1 + 22 3661 c.3425C>T c.(3424-3426)cCt>cTt p.P1142L RIMS2_ENST00000262231.10_Missense_Mutation_p.P1167L|RIMS2_ENST00000339750.2_Missense_Mutation_p.P264L|RIMS2_ENST00000436393.2_Missense_Mutation_p.P1346L|RIMS2_ENST00000406091.3_Missense_Mutation_p.P1328L NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1390 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) ACCTTGGCCCCTCTGACAAGA 0.448000 HNSCC(12;0.0054) 7 64 0 0 0.006214 0 0 SYT15 83849 broad.mit.edu 37 10 46969378 46969378 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:46969378A>G ENST00000374325.3 - 2 235 c.83T>C c.(82-84)cTg>cCg p.L28P SYT15_ENST00000503753.1_Missense_Mutation_p.L28P|SYT15_ENST00000374323.4_Intron|SYT15_ENST00000374321.4_Missense_Mutation_p.L28P NM_181519.2 NP_852660.1 Q9BQS2 SYT15_HUMAN synaptotagmin XV 28 integral to membrane|plasma membrane cervix(1)|endometrium(5)|kidney(2)|lung(5) 13 CCTTCTCCACAGACAGCAGCT 0.652000 55 162 0 0 0.014410 0 0 SYK 6850 broad.mit.edu 37 9 93629433 93629433 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:93629433A>G ENST00000375754.4 + 7 1015 c.867A>G c.(865-867)atA>atG p.I289M SYK_ENST00000375751.4_Intron|SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Missense_Mutation_p.I289M NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 289 Linker. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 CGGGTGGAATAATCTCAAGAA 0.463000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 33 38 0 0 0.006999 0 0 RASIP1 54922 broad.mit.edu 37 19 49238543 49238543 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:49238543G>A ENST00000222145.4 - 4 1293 c.1089C>T c.(1087-1089)ccC>ccT p.P363P RASIP1_ENST00000594232.1_5'UTR NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 363 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) CGAAGTCCCCGGGGTCTGCAG 0.672000 19 60 0 0 0.010504 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102605682 102605682 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:102605682C>T ENST00000334701.7 - 1 341 c.60G>A c.(58-60)agG>agA p.R20R HSP90AA1_ENST00000558600.1_5'UTR NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 0 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) CGGGACAGTCCCTGTCCCGAA 0.706000 24 11 0 0 0.003330 0 0 AKAP1 8165 broad.mit.edu 37 17 55195741 55195741 + Splice_Site SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:55195741G>T ENST00000337714.3 + 9 2733 c.e9-1 AKAP1_ENST00000539273.1_Splice_Site|AKAP1_ENST00000572557.1_Splice_Site|AKAP1_ENST00000571629.1_Splice_Site NM_003488.3 NP_003479.1 Q92667 AKAP1_HUMAN A kinase (PRKA) anchor protein 1 blood coagulation cytosol|integral to membrane|mitochondrial outer membrane protein binding|RNA binding endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1) 14 Breast(9;5.46e-08) TCCTCCTGAAGACGATGACCA 0.532000 32 37 5.71845e-15 6.30023e-15 0.005524 1 0 WDFY3 23001 broad.mit.edu 37 4 85731400 85731400 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:85731400T>C ENST00000322366.6 - 14 2392 c.1985A>G c.(1984-1986)gAa>gGa p.E662G WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Missense_Mutation_p.E662G Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 662 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) CAAAGATCTTTCCATAGCAAC 0.458000 10 29 0 0 0.013537 0 0 ALPI 248 broad.mit.edu 37 2 233322746 233322746 + Nonsense_Mutation SNP C C T rs147248868 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:233322746C>T ENST00000295463.3 + 8 972 c.895C>T c.(895-897)Cga>Tga p.R299* NM_001631.3 NP_001622.2 P09923 PPBI_HUMAN alkaline phosphatase, intestinal 299 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1) 24 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) TGAGATCCACCGAGACCCCAC 0.617000 62 28 0 0 0.014410 0 0 GON4L 54856 broad.mit.edu 37 1 155796703 155796703 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:155796703G>C ENST00000437809.1 - 3 744 c.622C>G c.(622-624)Caa>Gaa p.Q208E GON4L_ENST00000368331.1_Missense_Mutation_p.Q208E|GON4L_ENST00000271883.5_Missense_Mutation_p.Q208E|GON4L_ENST00000361040.5_Missense_Mutation_p.Q208E|GON4L_ENST00000471341.1_5'UTR NM_001282856.1 NP_001269785.1 Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 208 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) GGCTTTTCTTGAGGAGAGGCA 0.468000 14 49 0 0 0.006122 0 0 UQCRH 7388 broad.mit.edu 37 1 46769446 46769446 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:46769446T>C ENST00000311672.5 + 1 144 c.8T>C c.(7-9)cTg>cCg p.L3P UQCRH_ENST00000486951.1_3'UTR NM_001089591.1|NM_006004.2 NP_001083060.1|NP_005995.2 P07919 QCR6_HUMAN ubiquinol-cytochrome c reductase hinge protein 3 aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c ubiquinol-cytochrome-c reductase activity large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 4 Acute lymphoblastic leukemia(166;0.155) GACATGGGACTGGAGGACGAG 0.552000 20 60 0 0 0.005443 0 0 MCM3AP 8888 broad.mit.edu 37 21 47700482 47700482 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr21:47700482G>A ENST00000397708.1 - 4 1705 c.1451C>T c.(1450-1452)gCa>gTa p.A484V MCM3AP_ENST00000291688.1_Missense_Mutation_p.A484V O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 484 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AGCCAGGGCTGCAGATGCCTG 0.403000 17 30 0 0 0.014323 0 0 SCNN1A 6337 broad.mit.edu 37 12 6471317 6471317 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:6471317T>C ENST00000358945.3 - 3 1215 c.775A>G c.(775-777)Atc>Gtc p.I259V SCNN1A_ENST00000228916.2_Missense_Mutation_p.I259V|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000360168.3_Missense_Mutation_p.I318V|SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000396966.2_Missense_Mutation_p.I259V|SCNN1A_ENST00000543768.1_Missense_Mutation_p.I282V P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 259 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) CTCGACAGGATGTTGATGTAG 0.572000 29 91 0 0 0.010818 0 0 PDZD8 118987 broad.mit.edu 37 10 119044045 119044045 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:119044045A>T ENST00000334464.5 - 5 2438 c.2199T>A c.(2197-2199)agT>agA p.S733R PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 733 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) CAAGTTTTAAACTAACATGCC 0.438000 12 4 0 0 0.002450 0 0 COG5 10466 broad.mit.edu 37 7 106921779 106921779 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:106921779G>A ENST00000393603.2 - 14 1905 c.1634C>T c.(1633-1635)aCc>aTc p.T545I COG5_ENST00000297135.3_Missense_Mutation_p.T545I|COG5_ENST00000347053.3_Missense_Mutation_p.T545I NM_001161520.1 NP_001154992.1 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 545 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1) 40 TAACTGGATGGTCTTTGCCAC 0.299000 13 25 0 0 0.010504 0 0 PLCE1 51196 broad.mit.edu 37 10 96025625 96025625 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:96025625C>T ENST00000371380.3 + 15 4426 c.4191C>T c.(4189-4191)ccC>ccT p.P1397P PLCE1_ENST00000260766.3_Silent_p.P1397P|PLCE1_ENST00000371385.3_Silent_p.P1089P|PLCE1_ENST00000371375.1_Silent_p.P1089P Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 PI-PLC X-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGCAGCTACCCCTCTCATACT 0.413000 18 4 0 0 0.007413 0 0 PRDX5 25824 broad.mit.edu 37 11 64085714 64085714 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:64085714G>A ENST00000265462.4 + 1 155 c.27G>A c.(25-27)ctG>ctA p.L9L PRDX5_ENST00000352435.4_Silent_p.L9L|PRDX5_ENST00000347941.4_Silent_p.L9L NM_012094.4 NP_036226 P30044 PRDX5_HUMAN peroxiredoxin 5 9 cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis cytosolic part|mitochondrion|peroxisome caspase inhibitor activity|peroxidase activity|peroxiredoxin activity breast(1)|kidney(1)|lung(1)|skin(1) 4 Auranofin(DB00995) TGTGCGCCCTGAGACGCTCAG 0.701000 26 95 0 0 0.012213 0 0 WNK2 65268 broad.mit.edu 37 9 96051184 96051184 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:96051184C>G ENST00000297954.4 + 20 4259 c.4259C>G c.(4258-4260)cCt>cGt p.P1420R WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P1032R|WNK2_ENST00000395477.2_Missense_Mutation_p.P1383R|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P995R NM_001282394.1 NP_001269323.1 Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1420 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCCCCAGCCCCTTTGGCCCCC 0.652000 20 13 0 0 0.014323 0 0 LOXL3 84695 broad.mit.edu 37 2 74762468 74762468 + Silent SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:74762468G>C ENST00000264094.3 - 9 1601 c.1530C>G c.(1528-1530)acC>acG p.T510T LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Silent_p.T365T|LOXL3_ENST00000409549.1_Silent_p.T454T|LOXL3_ENST00000393937.2_Silent_p.T365T NM_032603.2 NP_115992.1 P58215 LOXL3_HUMAN lysyl oxidase-like 3 510 SRCR 4. extracellular space|membrane copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 30 TCCTCTTGCAGGTGATGTGGG 0.582000 38 38 0 0 0.008740 0 0 ZNF786 136051 broad.mit.edu 37 7 148769267 148769267 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:148769267G>A ENST00000316286.9 - 3 611 c.339C>T c.(337-339)aaC>aaT p.N113N ZNF786_ENST00000491431.1_Silent_p.N199N|ZNF786_ENST00000451334.3_Silent_p.N162N Q8N393 ZN786_HUMAN zinc finger protein 786 199 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CTAAATGGTTGTTCTCCCAAC 0.582000 9 22 0 0 0.002450 0 0 LEPREL1 55214 broad.mit.edu 37 3 189690704 189690704 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:189690704T>C ENST00000319332.5 - 11 1855 c.1658A>G c.(1657-1659)tAt>tGt p.Y553C LEPREL1_ENST00000427335.2_Missense_Mutation_p.Y372C NM_018192.3 NP_060662.2 Q8IVL5 P3H2_HUMAN leprecan-like 1 553 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation basement membrane|endoplasmic reticulum|Golgi apparatus iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ATAGGAAAAATACAGAGTTGA 0.433000 31 21 0 0 0.004289 0 0 CLSTN2 64084 broad.mit.edu 37 3 140277676 140277676 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:140277676C>G ENST00000458420.3 + 12 2208 c.2018C>G c.(2017-2019)gCc>gGc p.A673G NM_022131.2 NP_071414.2 Q9H4D0 CSTN2_HUMAN calsyntenin 2 673 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 AAAACCGAAGCCCCCGGGGAC 0.502000 HNSCC(16;0.037) 17 26 0 0 0.008871 0 0 CAMK2G 818 broad.mit.edu 37 10 75634270 75634270 + Translation_Start_Site SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:75634270C>T ENST00000423381.1 - 0 73 CAMK2G_ENST00000351293.3_De_novo_Start_InFrame|CAMK2G_ENST00000394762.2_De_novo_Start_InFrame|CAMK2G_ENST00000322680.3_De_novo_Start_InFrame|CAMK2G_ENST00000322635.3_De_novo_Start_InFrame|CAMK2G_ENST00000444854.2_De_novo_Start_InFrame|CAMK2G_ENST00000472912.1_5'UTR NM_001204492.1 NP_001191421.1 Q13555 KCC2G_HUMAN calcium/calmodulin-dependent protein kinase II gamma insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) CGTCGGTGCACAGTCACCGCC 0.726000 8 27 0 0 0.010729 0 0 PLXNA4 91584 broad.mit.edu 37 7 131832748 131832748 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:131832748C>G ENST00000359827.3 - 27 5737 c.4775G>C c.(4774-4776)gGt>gCt p.G1592A PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1592A Q9HCM2 PLXA4_HUMAN plexin A4 1592 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CACCACGGAACCATCTGGCAC 0.507000 12 78 0 0 0.001855 0 0 TAF4 6874 broad.mit.edu 37 20 60581776 60581776 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:60581776G>A ENST00000252996.4 - 7 2012 c.2013C>T c.(2011-2013)tcC>tcT p.S671S NM_003185.3 NP_003176.2 O00268 TAF4_HUMAN TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa TAFH. interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(26;1e-08) BRCA - Breast invasive adenocarcinoma(19;3.1e-07) TGAAGGCCGCGGAGTCGGGGG 0.657000 99 93 0 0 0.014410 0 0 KMT2A 4297 broad.mit.edu 37 11 118368671 118368671 + Nonsense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:118368671T>G ENST00000534358.1 + 21 5708 c.5685T>G c.(5683-5685)taT>taG p.Y1895* KMT2A_ENST00000389506.5_Nonsense_Mutation_p.Y1892*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.Y1854* NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A GTTTACTATATATTGGCCAAA 0.378000 13 27 0 0 0.003163 0 0 PFKP 5214 broad.mit.edu 37 10 3162099 3162099 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:3162099C>T ENST00000381075.2 + 18 1746 c.1522C>T c.(1522-1524)Ctg>Ttg p.L508L PFKP_ENST00000381125.4_Silent_p.L516L NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 516 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) CCTGGGACTCCTGGAGCTGTC 0.632000 OREG0019976 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 72 175 0 0 0.014410 0 0 PIK3C3 5289 broad.mit.edu 37 18 39637870 39637870 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:39637870G>A ENST00000262039.4 + 22 2373 c.2287G>A c.(2287-2289)Gga>Aga p.G763R PIK3C3_ENST00000588156.1_5'UTR|PIK3C3_ENST00000593098.1_Missense_Mutation_p.G248R|PIK3C3_ENST00000398870.3_Missense_Mutation_p.G700R NM_002647.2 NP_002638.2 Q8NEB9 PK3C3_HUMAN phosphatidylinositol 3-kinase, catalytic subunit type 3 763 PI3K/PI4K. cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1) 49 CATAGACTTTGGATATATTTT 0.418000 TSP Lung(28;0.18) 9 14 0 0 0.010729 0 0 ALS2 57679 broad.mit.edu 37 2 202593268 202593268 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:202593268G>A ENST00000264276.6 - 15 3180 c.2808C>T c.(2806-2808)ttC>ttT p.F936F ALS2_ENST00000457679.2_Silent_p.F248F NM_020919.3 NP_065970.2 Q96Q42 ALS2_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 936 PH. cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 72 TAAAGAGAATGAACCAATTCA 0.488000 6 47 0 0 0.001168 0 0 CDH2 1000 broad.mit.edu 37 18 25532201 25532201 + Silent SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:25532201A>C ENST00000269141.3 - 16 3060 c.2637T>G c.(2635-2637)ggT>ggG p.G879G CDH2_ENST00000399380.3_Silent_p.G848G NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 879 adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CCTGCTCACCACCACTACTTG 0.507000 OREG0003876 type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 14 68 0 0 0.004007 0 0 GSAP 54103 broad.mit.edu 37 7 77006665 77006665 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:77006665C>T ENST00000257626.7 - 9 697 c.619G>A c.(619-621)Gag>Aag p.E207K NM_017439.3 NP_059135.2 gamma-secretase activating protein ACGAAATCCTCAGCTATTCTG 0.323000 17 88 0 0 0.010504 0 0 ZNF136 7695 broad.mit.edu 37 19 12298627 12298627 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:12298627T>C ENST00000343979.4 + 4 1574 c.1434T>C c.(1432-1434)tgT>tgC p.C478C ZNF136_ENST00000398616.2_Silent_p.C412C NM_003437.3 NP_003428.1 P52737 ZN136_HUMAN zinc finger protein 136 478 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 CCTTTGAATGTAAGCGATGTG 0.418000 11 9 0 0 0.008291 0 0 AXL 558 broad.mit.edu 37 19 41765721 41765721 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:41765721A>G ENST00000301178.4 + 20 2787 c.2597A>G c.(2596-2598)tAt>tGt p.Y866C AXL_ENST00000593513.1_Missense_Mutation_p.Y598C|AXL_ENST00000359092.3_Missense_Mutation_p.Y857C NM_001278599.1|NM_021913.3 NP_001265528.1|NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase 866 integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 48 GCTGGACGCTATGTCCTCTGC 0.652000 61 59 0 0 0.014410 0 0 EFNB2 1948 broad.mit.edu 37 13 107145643 107145643 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:107145643C>T ENST00000245323.4 - 5 896 c.747G>A c.(745-747)ttG>ttA p.L249L NM_004093.3 NP_004084.1 P52799 EFNB2_HUMAN ephrin-B2 249 cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development integral to plasma membrane ephrin receptor binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) GGTACTTCAGCAAGAGGACCA 0.572000 57 111 0 0 0.014410 0 0 ZNF737 100129842 broad.mit.edu 37 19 20728292 20728292 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:20728292G>C ENST00000427401.4 - 4 811 c.717C>G c.(715-717)agC>agG p.S239R NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 239 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 ATGAAAACCGGCTAAAGGCTT 0.428000 5 7 0 0 0.000602 0 0 CYB5R1 51706 broad.mit.edu 37 1 202935955 202935955 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:202935955C>T ENST00000367249.4 - 2 161 c.87G>A c.(85-87)ttG>ttA p.L29L NM_016243.2 NP_057327.2 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 29 sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(75;0.141) ACCTCCGAACCAAGTAGGAGC 0.642000 9 37 0 0 0.004482 0 0 FNIP1 96459 broad.mit.edu 37 5 131008068 131008068 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:131008068T>C ENST00000307968.7 - 13 1984 c.1985A>G c.(1984-1986)gAc>gGc p.D662G CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.D645G|FNIP1_ENST00000510461.1_Missense_Mutation_p.D690G NM_001008738.2 NP_001008738 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TGCACATTTGTCTACTGGAAC 0.418000 75 38 0 0 0.014410 0 0 LRP5 4041 broad.mit.edu 37 11 68207303 68207303 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:68207303G>T ENST00000294304.7 + 21 4513 c.4407G>T c.(4405-4407)ggG>ggT p.G1469G NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1469 adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 GCCGGGGCGGGGTGCCCCTCT 0.706000 28 28 9.45814e-24 1.06314e-23 0.004878 1 0 DCT 1638 broad.mit.edu 37 13 95117984 95117984 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:95117984C>T ENST00000377028.5 - 4 1179 c.766G>A c.(766-768)Gtg>Atg p.V256M DCT_ENST00000446125.1_Missense_Mutation_p.V256M|DCT_ENST00000490854.1_5'UTR NM_001922.3 NP_001913.2 P40126 TYRP2_HUMAN dopachrome tautomerase 256 epidermis development|melanin biosynthetic process from tyrosine cytosol|integral to membrane|melanosome membrane|microsome copper ion binding|dopachrome isomerase activity|oxidoreductase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 50 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988) COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472) TCTGTACACACATCACACTCG 0.493000 20 40 0 0 0.004656 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576875 158576875 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:158576875T>C ENST00000361284.1 + 1 647 c.647T>C c.(646-648)aTc>aCc p.I216T NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, member 1 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) TTCATCACCATCTCCTACGCC 0.532000 30 34 0 0 0.009535 0 0 PCDH18 54510 broad.mit.edu 37 4 138452651 138452651 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:138452651G>A ENST00000344876.4 - 1 978 c.592C>T c.(592-594)Ctc>Ttc p.L198F PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000412923.2_Missense_Mutation_p.L198F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 198 Cadherin 2. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) ACCACTATGAGTTCTGCATAC 0.488000 8 30 0 0 0.003080 0 0 GRSF1 2926 broad.mit.edu 37 4 71693625 71693625 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:71693625T>C ENST00000254799.6 - 6 1196 c.1079A>G c.(1078-1080)cAt>cGt p.H360R GRSF1_ENST00000502323.1_Missense_Mutation_p.H198R|GRSF1_ENST00000439371.1_Missense_Mutation_p.H198R|GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.H242R NM_002092.3 NP_002083 Q12849 GRSF1_HUMAN G-rich RNA sequence binding factor 1 360 mRNA polyadenylation mRNA binding|nucleotide binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2) 17 all_hematologic(202;0.21) Lung(101;0.235) ATTTACTTCATGTTCTTCAAA 0.383000 19 50 0 0 0.014323 0 0 EDEM1 9695 broad.mit.edu 37 3 5229970 5229970 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:5229970C>T ENST00000600805.1 - 1 12 c.13G>A c.(13-15)Gca>Aca p.A5T EDEM1_ENST00000256497.4_Silent_p.C160C CCATCCACTGCCGCGGCCGTG 0.736000 16 31 0 0 0.012319 0 0 ARL6IP6 151188 broad.mit.edu 37 2 153575447 153575447 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:153575447G>A ENST00000326446.5 + 1 1020 c.309G>A c.(307-309)cgG>cgA p.R103R NM_152522.5 NP_689735.1 Q8N6S5 AR6P6_HUMAN ADP-ribosylation-like factor 6 interacting protein 6 103 integral to membrane kidney(1)|large_intestine(1)|lung(2)|pancreas(1) 5 AGCCTCGGCGGTGGCCGGTCC 0.632000 25 35 0 0 0.012213 0 0 JUNB 3726 broad.mit.edu 37 19 12903565 12903565 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:12903565A>G ENST00000302754.4 + 1 1256 c.980A>G c.(979-981)aAg>aGg p.K327R NM_002229.2 NP_002220.1 P17275 JUNB_HUMAN jun B proto-oncogene 327 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|kidney(1)|lung(3) 6 CTCAAACAGAAGGTCATGACC 0.652000 22 27 0 0 0.004656 0 0 PIGB 9488 broad.mit.edu 37 15 55632964 55632964 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:55632964C>T ENST00000164305.5 + 8 1292 c.1001C>T c.(1000-1002)gCa>gTa p.A334V PIGB_ENST00000539642.1_Missense_Mutation_p.A139V|CCPG1_ENST00000563294.1_Intron NM_004855.4 NP_004846.4 Q92521 PIGB_HUMAN phosphatidylinositol glycan anchor biosynthesis, class B 334 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane integral to membrane|intrinsic to endoplasmic reticulum membrane glycolipid mannosyltransferase activity endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1) 11 all cancers(107;0.0255) TGCTATCTAGCACCAAAGAGA 0.378000 4 5 0 0 0.000602 0 0 ZNF385D 79750 broad.mit.edu 37 3 21478519 21478519 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:21478519A>T ENST00000281523.2 - 5 1134 c.616T>A c.(616-618)Tgt>Agt p.C206S ZNF385D_ENST00000494118.1_5'UTR NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 206 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 CATAGCGAACAGTAAAGAAGC 0.483000 14 44 0 0 0.007413 0 0 TP53 7157 broad.mit.edu 37 17 7578208 7578208 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:7578208T>C ENST00000420246.2 - 6 773 c.641A>G c.(640-642)cAt>cGt p.H214R TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 214 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; 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.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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) CACCACACTATGTCGAAAAGT 0.542000 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) 42 13 0 0 0.014410 0 0 PTH2 113091 broad.mit.edu 37 19 49926533 49926533 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:49926533G>C ENST00000270631.1 - 1 165 c.64C>G c.(64-66)Ctg>Gtg p.L22V NM_178449.3 NP_848544.1 Q96A98 TIP39_HUMAN parathyroid hormone 2 22 neuropeptide signaling pathway extracellular region p.L22V(2) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836) GGCACCACcagcagcagcagc 0.692000 4 62 0 0 0.009096 0 0 USP40 55230 broad.mit.edu 37 2 234460031 234460031 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:234460031A>G ENST00000251722.6 - 7 945 c.828T>C c.(826-828)ttT>ttC p.F276F USP40_ENST00000450966.1_Silent_p.F288F|USP40_ENST00000427112.2_Silent_p.F276F Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 276 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CCTGTTCACAAAAGGGCTTGA 0.328000 6 1 0 0 0.006214 0 0 PSMD12 5718 broad.mit.edu 37 17 65337149 65337149 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:65337149G>A ENST00000356126.3 - 11 1288 c.1181C>T c.(1180-1182)tCa>tTa p.S394L PSMD12_ENST00000357146.4_Missense_Mutation_p.S374L NM_002816.3 NP_002807.1 O00232 PSD12_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 394 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) TACTAGATTTGAGAGAAAGGC 0.338000 7 18 0 0 0.006214 0 0 ADCY10 55811 broad.mit.edu 37 1 167814903 167814903 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:167814903C>T ENST00000367848.1 - 21 3126 c.2629G>A c.(2629-2631)Ggc>Agc p.G877S ADCY10_ENST00000545172.1_Missense_Mutation_p.G816S|ADCY10_ENST00000367851.4_Missense_Mutation_p.G969S Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 969 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AAGTCCCTGCCTCGGCAGTGG 0.463000 15 36 0 0 0.007413 0 0 HLA-C 3107 broad.mit.edu 37 6 31239079 31239079 + Silent SNP G G A rs45558335 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:31239079G>A ENST00000383329.3 - 3 404 c.390C>T c.(388-390)gaC>gaT p.D130D HLA-C_ENST00000376228.5_Silent_p.D130D Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 130 Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 GGAGGCGCCCGTCGGGCCCCA 0.741000 25 190 0 0 0.014410 0 0 RIPPLY3 53820 broad.mit.edu 37 21 38390265 38390265 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr21:38390265T>G ENST00000329553.2 + 4 541 c.331T>G c.(331-333)Ttc>Gtc p.F111V RIPPLY3_ENST00000485272.1_3'UTR NM_018962.2 NP_061835.1 ripply transcriptional repressor 3 CACGATTGACTTCTACGACGA 0.537000 12 29 0 0 0.002450 0 0 IPO5 3843 broad.mit.edu 37 13 98641409 98641409 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:98641409A>G ENST00000261574.5 + 7 692 c.512A>G c.(511-513)cAc>cGc p.H171R IPO5_ENST00000539640.1_Intron|IPO5_ENST00000490680.1_Missense_Mutation_p.H153R NM_002271.4 NP_002262.3 O00410 IPO5_HUMAN importin 5 153 interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus cytoplasm|nuclear pore|nucleolus GTPase inhibitor activity|protein transporter activity|Ran GTPase binding breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 27 GCTGCCCTTCACATTTTCTGG 0.373000 10 10 0 0 0.010729 0 0 EFS 10278 broad.mit.edu 37 14 23826494 23826494 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:23826494T>A ENST00000216733.3 - 6 2234 c.1627A>T c.(1627-1629)Aca>Tca p.T543S EFS_ENST00000351354.3_Missense_Mutation_p.T450S|EFS_ENST00000429593.2_Missense_Mutation_p.T374S NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 543 cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCCAGTTCTGTTACACACTGC 0.612000 31 101 0 0 0.004289 0 0 KCNC2 3747 broad.mit.edu 37 12 75601613 75601613 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:75601613C>T ENST00000549446.1 - 2 831 c.151G>A c.(151-153)Ggc>Agc p.G51S KCNC2_ENST00000393288.2_Missense_Mutation_p.G51S|KCNC2_ENST00000350228.2_Missense_Mutation_p.G51S|KCNC2_ENST00000341669.3_Missense_Mutation_p.G51S|KCNC2_ENST00000550433.1_Missense_Mutation_p.G51S|KCNC2_ENST00000298972.1_Missense_Mutation_p.G51S|KCNC2_ENST00000548513.1_Missense_Mutation_p.G51S|KCNC2_ENST00000540018.1_Missense_Mutation_p.G51S NM_001260497.1|NM_139137.3 NP_001247426.1|NP_631875.1 Q96PR1 KCNC2_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 2 51 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 54 agcTTGTCGCCCGCCGTGGTC 0.736000 41 20 0 0 0.006999 0 0 MOS 4342 broad.mit.edu 37 8 57025641 57025641 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:57025641C>T ENST00000311923.1 - 1 900 c.901G>A c.(901-903)Gct>Act p.A301T NM_005372.1 NP_005363.1 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene homolog 301 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2) 22 Epithelial(17;0.00117)|all cancers(17;0.00879) AAGACGGCAGCGGAGAGGGAC 0.692000 26 67 0 0 0.005524 0 0 KRT16 3868 broad.mit.edu 37 17 39766722 39766722 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:39766722T>C ENST00000301653.4 - 6 1205 c.1141A>G c.(1141-1143)Agt>Ggt p.S381G NM_005557.3 NP_005548.2 P08779 K1C16_HUMAN keratin 16 381 Coil 2.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) TCCTCCACACTGCCAATCAGT 0.577000 59 126 0 0 0.014410 0 0 CNTFR 1271 broad.mit.edu 37 9 34557969 34557969 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:34557969C>A ENST00000378980.3 - 5 626 c.333G>T c.(331-333)gaG>gaT p.E111D CNTFR_ENST00000351266.4_Missense_Mutation_p.E111D NM_001207011.1|NM_147164.2 NP_001193940.1|NP_671693.1 P26992 CNTFR_HUMAN ciliary neurotrophic factor receptor 111 Fibronectin type-III 1. nervous system development anchored to membrane|extrinsic to membrane|plasma membrane ciliary neurotrophic factor receptor activity|receptor binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1) 15 all_epithelial(49;0.0899) STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.00494) TGAGCACAGGCTCCCGCGGCG 0.627000 132 252 2.97109e-61 3.50842e-61 0.014410 1 0 SCAP 22937 broad.mit.edu 37 3 47484415 47484415 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:47484415T>C ENST00000265565.5 - 2 481 c.69A>G c.(67-69)gcA>gcG p.A23A SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 23 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) TGGGATAGGATGCACAGAGGA 0.542000 5 18 0 0 0.001168 0 0 MTHFS 10588 broad.mit.edu 37 15 80137594 80137594 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:80137594C>A ENST00000258874.3 - 3 630 c.570G>T c.(568-570)atG>atT p.M190I ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.M166I NM_006441.3 NP_006432.1 P49914 MTHFS_HUMAN 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) 190 folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process cytosol|Golgi apparatus|plasma membrane 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding endometrium(3)|large_intestine(1)|liver(1) 5 all cancers(203;0.00467) CATCTACCTTCATGTCGTTTT 0.428000 9 50 1.33987e-11 1.44745e-11 0.008291 1 0 CR1 1378 broad.mit.edu 37 1 207679369 207679369 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:207679369C>A ENST00000367049.4 + 2 242 c.242C>A c.(241-243)cCg>cAg p.P81Q CR1_ENST00000367051.1_Missense_Mutation_p.P81Q|CR1_ENST00000367052.1_Missense_Mutation_p.P81Q|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Missense_Mutation_p.P81Q|CR1_ENST00000400960.2_Missense_Mutation_p.P81Q NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 81 Sushi 1. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TCCGGAAGACCGTTTTCTATC 0.473000 9 44 2.74318e-10 2.92782e-10 0.006214 1 0 DHH 50846 broad.mit.edu 37 12 49488197 49488197 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:49488197G>A ENST00000266991.2 - 1 405 c.99C>T c.(97-99)cgC>cgT p.R33R NM_021044.2 NP_066382.1 O43323 DHH_HUMAN desert hedgehog 33 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding breast(1)|large_intestine(3)|lung(4) 8 GCGCATAGCGGCGCCGGCCAA 0.706000 11 26 0 0 0.010729 0 0 ZBTB7A 51341 broad.mit.edu 37 19 4047820 4047820 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:4047820C>T ENST00000322357.4 - 3 1963 c.1685G>A c.(1684-1686)gGt>gAt p.G562D ZBTB7A_ENST00000601588.1_Missense_Mutation_p.G562D NM_015898.2 NP_056982.1 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 562 Poly-Gly. cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 14 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTCCTCCACCGGCGCCCGC 0.642000 16 69 0 0 0.012319 0 0 UBN2 254048 broad.mit.edu 37 7 138978726 138978726 + Splice_Site SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:138978726C>A ENST00000473989.3 + 17 3993 c.3993C>A c.(3991-3993)caC>caA p.H1331Q UBN2_ENST00000288561.8_Splice_Site_p.H1248Q NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 AAGCATTTCACGGTGAGAACG 0.433000 14 25 2.23348e-06 2.3224e-06 0.004007 1 0 CHST4 10164 broad.mit.edu 37 16 71571354 71571354 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:71571354G>A ENST00000338482.5 + 3 1117 c.774G>A c.(772-774)aaG>aaA p.K258K ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Silent_p.K258K|CHST4_ENST00000572450.1_Silent_p.K258K Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 258 cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 21 AGATCTACAAGACCATCCAGT 0.557000 OREG0023923 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 63 0 0 0.010729 0 0 EEF1A1 1915 broad.mit.edu 37 6 74227942 74227942 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:74227942G>C ENST00000316292.9 - 6 2066 c.1075C>G c.(1075-1077)Cct>Gct p.P359A EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000309268.6_Missense_Mutation_p.P359A|EEF1A1_ENST00000331523.2_Missense_Mutation_p.P359A NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 359 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 TCCAATACAGGGGCATAGCCG 0.458000 3 57 0 0 0.004672 0 0 E2F8 79733 broad.mit.edu 37 11 19253864 19253864 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:19253864A>G ENST00000527884.1 - 7 1215 c.983T>C c.(982-984)aTc>aCc p.I328T E2F8_ENST00000250024.4_Missense_Mutation_p.I328T|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 328 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 AACTTTCTTGATAAGATCCAG 0.358000 31 21 0 0 0.003755 0 0 DGCR8 54487 broad.mit.edu 37 22 20074109 20074109 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr22:20074109A>G ENST00000351989.3 + 2 1052 c.623A>G c.(622-624)aAt>aGt p.N208S DGCR8_ENST00000407755.1_Missense_Mutation_p.N208S|DGCR8_ENST00000383024.2_Missense_Mutation_p.N208S NM_022720.6 NP_073557.3 Q8WYQ5 DGCR8_HUMAN DGCR8 microprocessor complex subunit 208 Necessary for interaction with NCL.|Necessary for nuclear localization and retention. primary miRNA processing cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 Colorectal(54;0.0993) TTTACTGACAATTTGGAGCTA 0.478000 47 19 0 0 0.014410 0 0 PJA2 9867 broad.mit.edu 37 5 108680459 108680459 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:108680459C>G ENST00000361189.2 - 8 2065 c.1826G>C c.(1825-1827)aGt>aCt p.S609T PJA2_ENST00000361557.3_Missense_Mutation_p.S609T NM_014819.4 NP_055634.3 O43164 PJA2_HUMAN praja ring finger 2, E3 ubiquitin protein ligase 609 Interaction with PRKAR1A, PRKAR2A and PRKAR2B. long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 21 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) GCTTTCCTTACTAGCTGGTGG 0.413000 26 22 0 0 0.003755 0 0 MBD6 114785 broad.mit.edu 37 12 57919889 57919889 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:57919889G>C ENST00000355673.3 + 6 1494 c.1138G>C c.(1138-1140)Ggc>Cgc p.G380R MBD6_ENST00000431731.2_Missense_Mutation_p.G380R NM_052897.3 NP_443129.3 Q96DN6 MBD6_HUMAN methyl-CpG binding domain protein 6 380 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 AGAAGGGAGAGGCCCTCAAAC 0.617000 77 77 0 0 0.014410 0 0 ZNF616 90317 broad.mit.edu 37 19 52619312 52619312 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:52619312C>T ENST00000600228.1 - 4 1366 c.1105G>A c.(1105-1107)Gta>Ata p.V369I ZNF616_ENST00000330123.5_3'UTR NM_178523.3 NP_848618.2 Q08AN1 ZN616_HUMAN zinc finger protein 616 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189) CGGTGACATACAAGATTTGAT 0.418000 47 58 0 0 0.014410 0 0 COL4A3 1285 broad.mit.edu 37 2 228113226 228113226 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:228113226C>T ENST00000396578.3 + 9 698 c.536C>T c.(535-537)cCa>cTa p.P179L AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000606119.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 179 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) CCAGGGGCTCCAGGACCCCAG 0.463000 12 6 0 0 0.003163 0 0 CSMD3 114788 broad.mit.edu 37 8 114290867 114290867 + Silent SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:114290867G>C ENST00000297405.5 - 3 712 c.468C>G c.(466-468)acC>acG p.T156T CSMD3_ENST00000343508.3_Silent_p.T116T|CSMD3_ENST00000455883.2_Silent_p.T156T|CSMD3_ENST00000352409.3_Silent_p.T156T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 156 CUB 1. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CAAAATCACTGGTCAAACGTA 0.373000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 41 0 0 0.004007 0 0 ACTC1 70 broad.mit.edu 37 15 35084467 35084467 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:35084467A>G ENST00000290378.4 - 5 1287 c.632T>C c.(631-633)gTc>gCc p.V211A RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR NM_005159.4 NP_005150.1 P68032 ACTC_HUMAN actin, alpha, cardiac muscle 1 211 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) AATGTCACGGACAATTTCACG 0.468000 12 8 0 0 0.001855 0 0 ASPA 443 broad.mit.edu 37 17 3379514 3379514 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:3379514C>G ENST00000263080.2 + 1 219 c.61C>G c.(61-63)Cat>Gat p.H21D SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.H21D NM_000049.2 NP_000040.1 P45381 ACY2_HUMAN aspartoacylase 21 H -> P (in CAND). aspartate catabolic process cytoplasm|nucleus aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1) 17 L-Aspartic Acid(DB00128) TGGAGGAACCCATGGGAATGA 0.398000 34 29 0 0 0.008740 0 0 MYH14 79784 broad.mit.edu 37 19 50735294 50735294 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:50735294C>T ENST00000440075.2 + 10 1128 c.1081C>T c.(1081-1083)Cgg>Tgg p.R361W MYH14_ENST00000376970.2_Missense_Mutation_p.R353W|MYH14_ENST00000425460.1_Missense_Mutation_p.R361W|MYH14_ENST00000598205.1_Missense_Mutation_p.R361W|MYH14_ENST00000601313.1_Missense_Mutation_p.R361W|MYH14_ENST00000262269.8_Missense_Mutation_p.R361W|MYH14_ENST00000596571.1_Missense_Mutation_p.R353W Q7Z406 MYH14_HUMAN myosin, heavy chain 14, non-muscle 353 Myosin head-like. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 46 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GGAGTCGCTGCGGGTCCTGGG 0.662000 15 56 0 0 0.010504 0 0 MYO5C 55930 broad.mit.edu 37 15 52534274 52534274 + Nonsense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:52534274C>A ENST00000261839.7 - 20 2688 c.2527G>T c.(2527-2529)Gga>Tga p.G843* MYO5C_ENST00000443683.2_Intron NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 843 IQ 4. myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) GCCAGGAATCCTCGGCTGTAG 0.547000 93 100 1.44639e-49 1.69445e-49 0.014410 1 0 ARHGEF1 9138 broad.mit.edu 37 19 42402702 42402702 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:42402702C>G ENST00000599846.1 + 15 1526 c.1401C>G c.(1399-1401)ccC>ccG p.P467P ARHGEF1_ENST00000378152.4_Silent_p.P393P|ARHGEF1_ENST00000347545.4_Silent_p.P378P|ARHGEF1_ENST00000354532.3_Silent_p.P411P|ARHGEF1_ENST00000337665.4_Silent_p.P426P Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 411 DH. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) ACAGCCTGCCCAAGAGCCAGG 0.652000 6 16 0 0 0.004482 0 0 FNIP2 57600 broad.mit.edu 37 4 159789770 159789770 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:159789770G>T ENST00000264433.6 + 13 2057 c.1982G>T c.(1981-1983)gGc>gTc p.G661V FNIP2_ENST00000379346.3_Missense_Mutation_p.G684V NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 661 Interaction with PRKAA1. DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding p.G661D(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) CCGCAAGATGGCTCTTCAAGA 0.522000 14 13 1.49906e-05 1.53714e-05 0.002450 1 0 SASH1 23328 broad.mit.edu 37 6 148865308 148865308 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:148865308C>A ENST00000367467.3 + 18 3177 c.2702C>A c.(2701-2703)tCt>tAt p.S901Y NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 901 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) AAGAGATTTTCTGAACCTCAG 0.537000 30 102 4.65686e-17 5.15623e-17 0.003755 1 0 HECW1 23072 broad.mit.edu 37 7 43436489 43436489 + Splice_Site SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:43436489G>C ENST00000395891.2 + 7 1236 c.e7+1 HECW1_ENST00000453890.1_Splice_Site|HECW1_ENST00000471043.1_Splice_Site NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 TCTCTCTCAGGTATGTTTTGC 0.438000 10 31 0 0 0.010729 0 0 KLHL30 377007 broad.mit.edu 37 2 239054468 239054468 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:239054468T>C ENST00000409223.1 + 5 1252 c.1145T>C c.(1144-1146)aTc>aCc p.I382T KLHL30_ENST00000305959.4_Missense_Mutation_p.I364T Q0D2K2 KLH30_HUMAN kelch-like family member 30 382 lung(4) 4 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) ATCTACGTTATCGGCGGTGAG 0.657000 25 7 0 0 0.012213 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1717398 1717398 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:1717398C>A ENST00000397412.3 + 17 3198 c.3099C>A c.(3097-3099)ttC>ttA p.F1033L CRAMP1L_ENST00000436138.3_Missense_Mutation_p.F1030L|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.F1033L|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.F411L Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 1033 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 CAGACAGTTTCCAGGTAGAGT 0.637000 17 58 1.40151e-16 1.54794e-16 0.010504 1 0 JRK 8629 broad.mit.edu 37 8 143745928 143745928 + RNA SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:143745928C>T ENST00000507178.2 - 0 1882 jerky homolog (mouse) all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) CACGCAGCGCCCgcagctgcc 0.701000 15 27 0 0 0.007413 0 0 PDZD2 23037 broad.mit.edu 37 5 32048677 32048677 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:32048677T>C ENST00000438447.1 + 8 1940 c.1552T>C c.(1552-1554)Tat>Cat p.Y518H PDZD2_ENST00000282493.3_Missense_Mutation_p.Y518H O15018 PDZD2_HUMAN PDZ domain containing 2 518 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGTTGAAGAATATAACGAGCT 0.527000 51 46 0 0 0.014410 0 0 RPRD2 23248 broad.mit.edu 37 1 150444196 150444196 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:150444196G>T ENST00000401000.4 + 10 2759 c.2694G>T c.(2692-2694)ggG>ggT p.G898G RPRD2_ENST00000539519.1_Silent_p.G898G|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000369068.4_Silent_p.G924G Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 924 Ser-rich. protein binding p.G924G(2) 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 ATGAACCTGGGTCTGACCGGT 0.507000 127 119 1.28101e-76 1.51672e-76 0.014410 1 0 C7orf25 79020 broad.mit.edu 37 7 42949751 42949751 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:42949751A>T ENST00000350427.4 - 2 1024 c.749T>A c.(748-750)cTg>cAg p.L250Q PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.L250Q|C7orf25_ENST00000431882.2_Missense_Mutation_p.L308Q|C7orf25_ENST00000447342.1_Missense_Mutation_p.L250Q Q9BPX7 CG025_HUMAN chromosome 7 open reading frame 25 250 endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1) 17 AGTAATGTCCAGATTTACTCT 0.413000 18 51 0 0 0.012319 0 0 NOTCH4 4855 broad.mit.edu 37 6 32169985 32169985 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:32169985G>T ENST00000375023.3 - 21 3761 c.3623C>A c.(3622-3624)cCa>cAa p.P1208Q NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1208 cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CCAGGGGTCTGGGACTCCCAG 0.637000 79 114 2.84431e-33 3.25483e-33 0.014410 1 0 ITGB5 3693 broad.mit.edu 37 3 124540305 124540305 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:124540305C>T ENST00000296181.4 - 6 1093 c.797G>A c.(796-798)cGa>cAa p.R266Q NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 266 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) TGCATCCTTTCGCCAGCCAAT 0.567000 31 149 0 0 0.003755 0 0 MRPS6 64968 broad.mit.edu 37 21 35497670 35497670 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr21:35497670G>A ENST00000399312.2 + 2 253 c.75G>A c.(73-75)acG>acA p.T25T MRPS6_ENST00000482679.1_3'UTR|AP000320.7_ENST00000362077.4_RNA NM_032476.3 NP_115865.1 P82932 RT06_HUMAN mitochondrial ribosomal protein S6 25 translation mitochondrion|small ribosomal subunit rRNA binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1) 6 TGAAACGTACGATAGAGGCCC 0.418000 44 44 0 0 0.014410 0 0 STK38 11329 broad.mit.edu 37 6 36483157 36483157 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:36483157G>A ENST00000229812.7 - 7 912 c.627C>T c.(625-627)atC>atT p.I209I NM_007271.2 NP_009202.1 Q15208 STK38_HUMAN serine/threonine kinase 38 209 Protein kinase. intracellular protein kinase cascade|negative regulation of MAP kinase activity cytoplasm|MLL5-L complex ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TGTCTCTGTGGATGAATCCAA 0.433000 32 36 0 0 0.006230 0 0 KCND2 3751 broad.mit.edu 37 7 120381638 120381638 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:120381638T>C ENST00000331113.4 + 3 2294 c.1329T>C c.(1327-1329)gcT>gcC p.A443A NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 443 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GCGCAAATGCTTACATGCAGA 0.368000 14 24 0 0 0.010504 0 0 FAM129B 64855 broad.mit.edu 37 9 130280165 130280165 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:130280165C>T ENST00000373312.3 - 6 858 c.645G>A c.(643-645)atG>atA p.M215I FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.M202I NM_022833.2 NP_073744.2 Q96TA1 NIBL1_HUMAN family with sequence similarity 129, member B 215 protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 ACTGTCGGTACATGCGGATGG 0.612000 21 30 0 0 0.005443 0 0 PDZD2 23037 broad.mit.edu 37 5 32089375 32089375 + Nonsense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:32089375G>T ENST00000438447.1 + 20 6209 c.5821G>T c.(5821-5823)Gag>Tag p.E1941* PDZD2_ENST00000282493.3_Nonsense_Mutation_p.E1941* O15018 PDZD2_HUMAN PDZ domain containing 2 1941 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AGCCGACCACGAGGACCCTGA 0.602000 96 88 1.26289e-39 1.46022e-39 0.014410 1 0 PTPN22 26191 broad.mit.edu 37 1 114372323 114372323 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:114372323T>G ENST00000359785.5 - 18 2276 c.2141A>C c.(2140-2142)cAg>cCg p.Q714P PTPN22_ENST00000538253.1_Missense_Mutation_p.Q470P|PTPN22_ENST00000525799.1_Missense_Mutation_p.Q587P|PTPN22_ENST00000528414.1_Missense_Mutation_p.Q659P|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.Q714P NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 714 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGATTGGGCCTGCATACCTTA 0.338000 3 15 0 0 0.004672 0 0 KCNK15 60598 broad.mit.edu 37 20 43374640 43374640 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:43374640A>T ENST00000372861.3 + 1 220 c.89A>T c.(88-90)gAg>gTg p.E30V RP11-445H22.4_ENST00000427303.1_RNA NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 30 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) GACGCGCTCGAGTCCGAGGCG 0.721000 4 17 0 0 0.009096 0 0 KL 9365 broad.mit.edu 37 13 33628356 33628356 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:33628356G>C ENST00000380099.3 + 2 1280 c.1272G>C c.(1270-1272)aaG>aaC p.K424N KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.K117N NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 424 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) GGACCACCAAGAGAGATGATG 0.393000 22 19 0 0 0.003330 0 0 CRY2 1408 broad.mit.edu 37 11 45891186 45891186 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:45891186C>T ENST00000443527.2 + 7 1097 c.1075C>T c.(1075-1077)Ccc>Tcc p.P359S CRY2_ENST00000417225.2_Missense_Mutation_p.P277S NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 338 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 CATCCAGATCCCCTGGGACCG 0.587000 43 161 0 0 0.014410 0 0 MUC20 200958 broad.mit.edu 37 3 195453217 195453217 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:195453217C>G ENST00000320736.6 + 3 1356 c.1230C>G c.(1228-1230)ctC>ctG p.L410L MUC20_ENST00000445522.2_Silent_p.L546L|MUC20_ENST00000436408.1_Silent_p.L581L|MUC20_ENST00000447234.2_Silent_p.L581L Q8N307 MUC20_HUMAN mucin 20, cell surface associated 581 protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) AAGCCGCCCTCAAGAACTTCA 0.597000 14 105 0 0 0.004007 0 0 MROH2B 133558 broad.mit.edu 37 5 41045898 41045898 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:41045898G>C ENST00000399564.4 - 18 2236 c.1786C>G c.(1786-1788)Cag>Gag p.Q596E MROH2B_ENST00000506092.2_Missense_Mutation_p.Q151E NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.Q596K(1) TTGAAATCCTGAGTCAGCTGA 0.423000 112 93 0 0 0.014410 0 0 AIM1 202 broad.mit.edu 37 6 107011686 107011686 + Silent SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:107011686T>G ENST00000369066.3 + 19 5449 c.4962T>G c.(4960-4962)tcT>tcG p.S1654S AIM1_ENST00000535438.1_Silent_p.S473S NM_001624.2 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 1654 Ricin B-type lectin. sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TGGTAACATCTGGCTCCAAGC 0.493000 30 36 0 0 0.010771 0 0 RNF181 51255 broad.mit.edu 37 2 85823723 85823723 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:85823723G>T ENST00000441634.1 + 2 207 c.168G>T c.(166-168)aaG>aaT p.K56N RNF181_ENST00000306368.4_Missense_Mutation_p.K56N Q9P0P0 RN181_HUMAN ring finger protein 181 56 ligase activity|zinc ion binding lung(1)|stomach(1) 2 CAGCTGCCAAGACTGTGGTTG 0.537000 20 28 2.98393e-07 3.11001e-07 0.002780 1 0 RGPD3 653489 broad.mit.edu 37 2 107073498 107073498 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:107073498C>T ENST00000409886.3 - 4 421 c.334G>A c.(334-336)Gga>Aga p.G112R RGPD3_ENST00000304514.7_Missense_Mutation_p.G112R NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 112 intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 TCTGCTCTTCCATCAGTAACA 0.343000 19 29 0 0 0.003330 0 0 KIAA1804 84451 broad.mit.edu 37 1 233512183 233512183 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:233512183C>A ENST00000366624.3 + 8 2095 c.1834C>A c.(1834-1836)Cct>Act p.P612T MLK4_ENST00000366622.1_Missense_Mutation_p.P58T NM_032435.2 NP_115811.2 TAGGATAAGACCTCTCTCCGA 0.378000 3 17 0.000602214 0.000613264 0.000602 1 0 ARNT2 9915 broad.mit.edu 37 15 80872758 80872758 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:80872758A>G ENST00000533983.1 + 17 1926 c.1587A>G c.(1585-1587)tcA>tcG p.S529S RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000303329.4_Silent_p.S540S|ARNT2_ENST00000527771.1_Silent_p.S529S Q9HBZ2 ARNT2_HUMAN aryl-hydrocarbon receptor nuclear translocator 2 540 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1) 35 BRCA - Breast invasive adenocarcinoma(143;0.134) CTAGCTCTTCAGTGGTTCATG 0.512000 23 92 0 0 0.006320 0 0 FGF20 26281 broad.mit.edu 37 8 16859521 16859521 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:16859521G>A ENST00000180166.5 - 1 169 c.21C>T c.(19-21)gtC>gtT p.V7V NM_019851.2 NP_062825.1 Q9NP95 FGF20_HUMAN fibroblast growth factor 20 7 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 11 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GAAAGCCCCCGACTTCGGCTA 0.637000 6 3 0 0 0.003080 0 0 F2RL1 2150 broad.mit.edu 37 5 76129480 76129480 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:76129480G>C ENST00000296677.4 + 2 1254 c.1048G>C c.(1048-1050)Gat>Cat p.D350H NM_005242.4 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 350 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) TGTTTCACATGATTTCAGGGA 0.488000 129 53 0 0 0.014410 0 0 AP5B1 91056 broad.mit.edu 37 11 65547232 65547232 + Silent SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:65547232T>A ENST00000532090.2 - 2 942 c.732A>T c.(730-732)gcA>gcT p.A244A NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 187 Leu-rich. protein binding lung(1) 1 CCTCCTCAGCTGCCGGCCAGC 0.662000 141 115 0 0 0.014410 0 0 TSPAN2 10100 broad.mit.edu 37 1 115601537 115601537 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:115601537T>C ENST00000369516.2 - 5 442 c.411A>G c.(409-411)aaA>aaG p.K137K TSPAN2_ENST00000369515.2_Silent_p.K112K|TSPAN2_ENST00000369514.2_Silent_p.K137K NM_005725.4 NP_005716.2 O60636 TSN2_HUMAN tetraspanin 2 137 integral to membrane central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1) 10 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) TCCCATTGCCTTTTCCCCTGT 0.418000 3 83 0 0 0.004672 0 0 EPHB4 2050 broad.mit.edu 37 7 100417868 100417868 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:100417868G>C ENST00000358173.3 - 5 1327 c.859C>G c.(859-861)Cca>Gca p.P287A EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.P287A NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 287 Cys-rich. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) GCTGGGCATGGCTGGCAGGAC 0.592000 164 335 0 0 0.014410 0 0 ITGAV 3685 broad.mit.edu 37 2 187533614 187533614 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:187533614T>C ENST00000261023.3 + 25 2833 c.2559T>C c.(2557-2559)acT>acC p.T853T AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000474571.1_3'UTR|ITGAV_ENST00000433736.2_Silent_p.T807T|ITGAV_ENST00000374907.3_Silent_p.T817T NM_002210.3 NP_002201 P06756 ITAV_HUMAN integrin, alpha V 853 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) TGAACTGCACTTCAGATATGG 0.343000 19 27 0 0 0.003330 0 0 BCL11B 64919 broad.mit.edu 37 14 99723962 99723962 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:99723962C>T ENST00000345514.2 - 2 539 c.273G>A c.(271-273)aaG>aaA p.K91K BCL11B_ENST00000357195.3_Silent_p.K91K|BCL11B_ENST00000443726.2_Intron NM_001282238.1|NM_022898.1 NP_001269167.1|NP_075049.1 Q9C0K0 BC11B_HUMAN B-cell CLL/lymphoma 11B (zinc finger protein) 490 nucleus zinc ion binding NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2) 34 Melanoma(154;0.0866)|all_epithelial(191;0.241) COAD - Colon adenocarcinoma(157;0.103) TGTCCAGGGCCTTGTCATAGC 0.587000 T TLX3 T-ALL 131 84 0 0 0.014410 0 0 ANXA13 312 broad.mit.edu 37 8 124714886 124714886 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:124714886C>A ENST00000262219.6 - 4 372 c.305G>T c.(304-306)gGc>gTc p.G102V ANXA13_ENST00000419625.1_Missense_Mutation_p.G61V NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 61 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) AATCACCTTGCCGTACGTTGC 0.507000 26 102 1.26612e-14 1.39148e-14 0.003271 1 0 MAP3K7 6885 broad.mit.edu 37 6 91254347 91254347 + Nonsense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:91254347A>C ENST00000369329.3 - 12 1376 c.1215T>G c.(1213-1215)taT>taG p.Y405* MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369320.1_Intron|MAP3K7_ENST00000369325.3_Nonsense_Mutation_p.Y405*|MAP3K7_ENST00000369332.3_Intron NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 405 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) TAGGCTTGGAATAGGCTGCAA 0.388000 9 34 0 0 0.006214 0 0 STRN4 29888 broad.mit.edu 37 19 47226204 47226204 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:47226204T>C ENST00000391910.3 - 14 2240 c.1790A>G c.(1789-1791)cAc>cGc p.H597R STRN4_ENST00000263280.6_Missense_Mutation_p.H590R|STRN4_ENST00000539396.1_Missense_Mutation_p.H471R|STRN4_ENST00000594357.2_5'UTR Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 590 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) GGGGACCCCGTGCTCTGAGGG 0.662000 27 67 0 0 0.009535 0 0 PODN 127435 broad.mit.edu 37 1 53542872 53542872 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:53542872C>G ENST00000371500.3 + 8 1020 c.679C>G c.(679-681)Ctg>Gtg p.L227V PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.L246V|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 198 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 GTCTGTGTACCTGCACAACAA 0.627000 66 204 0 0 0.014410 0 0 KEL 3792 broad.mit.edu 37 7 142650920 142650920 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:142650920C>A ENST00000355265.2 - 9 1522 c.1048G>T c.(1048-1050)Gtg>Ttg p.V350L KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 350 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) ATCTCCTCCACCAGTTGTGAC 0.537000 109 199 5.88774e-50 6.91576e-50 0.014410 1 0 VPS4A 27183 broad.mit.edu 37 16 69352762 69352762 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:69352762A>G ENST00000254950.11 + 5 536 c.380A>G c.(379-381)aAc>aGc p.N127S RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.N151S NM_013245.2 NP_037377.1 Q9UN37 VPS4A_HUMAN vacuolar protein sorting 4 homolog A (S. cerevisiae) 127 cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3) 7 Ovarian(137;0.101) ATACGGTGGAACGACGTGGCC 0.632000 72 239 0 0 0.014410 0 0 NPLOC4 55666 broad.mit.edu 37 17 79580442 79580442 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:79580442G>A ENST00000374747.5 - 4 417 c.288C>T c.(286-288)ggC>ggT p.G96G NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000331134.6_Silent_p.G96G|NPLOC4_ENST00000574344.1_5'UTR Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 96 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) AGACTTTGAAGCCCGGTGGAA 0.517000 3 26 0 0 0.004672 0 0 DCDC1 341019 broad.mit.edu 37 11 30914479 30914479 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:30914479T>C ENST00000597505.1 - 34 4958 c.4959A>G c.(4957-4959)atA>atG p.I1653M DCDC1_ENST00000406071.2_Missense_Mutation_p.I391M P59894 DCDC1_HUMAN doublecortin domain containing 1 0 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) GCTTGACTGCTATACGTTTGG 0.428000 9 34 0 0 0.008291 0 0 IL32 9235 broad.mit.edu 37 16 3119252 3119252 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:3119252C>T ENST00000525643.2 + 7 795 c.463C>T c.(463-465)Ctg>Ttg p.L155L IL32_ENST00000529550.1_Silent_p.L155L|IL32_ENST00000551513.1_Silent_p.L192L|IL32_ENST00000549213.1_Intron|IL32_ENST00000533097.2_Silent_p.L155L|IL32_ENST00000529699.1_Silent_p.L135L|IL32_ENST00000531965.1_Silent_p.L145L|IL32_ENST00000534507.1_Silent_p.L201L|IL32_ENST00000552356.1_Silent_p.L135L|IL32_ENST00000530538.2_Silent_p.L155L|IL32_ENST00000548476.1_Silent_p.L201L|IL32_ENST00000382213.3_Silent_p.L146L|IL32_ENST00000548652.1_Silent_p.L146L|IL32_ENST00000528163.2_Silent_p.L155L|IL32_ENST00000444393.3_Silent_p.L155L|IL32_ENST00000548246.1_Silent_p.L115L|IL32_ENST00000396890.2_Silent_p.L201L|IL32_ENST00000008180.9_Silent_p.L135L|IL32_ENST00000526464.2_Silent_p.L155L|IL32_ENST00000552664.1_Silent_p.L155L|IL32_ENST00000552936.1_Silent_p.L179L|IL32_ENST00000396887.3_Intron|IL32_ENST00000325568.5_Silent_p.L155L|IL32_ENST00000530890.1_Silent_p.L135L|IL32_ENST00000440815.3_Silent_p.L155L|IL32_ENST00000551122.1_Intron P24001 IL32_HUMAN interleukin 32 201 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 CTGCTGCTCTCTGTCAGAGCT 0.592000 11 62 0 0 0.010729 0 0 FH 2271 broad.mit.edu 37 1 241680601 241680601 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:241680601A>T ENST00000366560.3 - 2 186 c.148T>A c.(148-150)Ttc>Atc p.F50I FH_ENST00000493477.1_5'UTR NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 50 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2) 26 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) TCTATCCGGAAGGAATTTTGG 0.383000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 3 16 0 0 0.004672 0 0 ZNF462 58499 broad.mit.edu 37 9 109694734 109694734 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:109694734G>T ENST00000277225.5 + 5 6309 c.6020G>T c.(6019-6021)cGt>cTt p.R2007L ZNF462_ENST00000457913.1_Missense_Mutation_p.R2067L|ZNF462_ENST00000441147.2_Missense_Mutation_p.R913L|ZNF462_ENST00000497489.1_3'UTR Q96JM2 ZN462_HUMAN zinc finger protein 462 2007 transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 CAGGGGCTGCGTTCTCATGAG 0.537000 20 59 6.44725e-10 6.81567e-10 0.014323 1 0 CNOT8 9337 broad.mit.edu 37 5 154250228 154250228 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:154250228A>G ENST00000517876.1 + 5 795 c.319A>G c.(319-321)Atg>Gtg p.M107V CNOT8_ENST00000521450.1_Start_Codon_SNP_p.M1V|CNOT8_ENST00000521583.1_Start_Codon_SNP_p.M1V|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000520671.1_Start_Codon_SNP_p.M1V|CNOT8_ENST00000403027.2_Missense_Mutation_p.M107V|CNOT8_ENST00000523698.1_Start_Codon_SNP_p.M1V|CNOT8_ENST00000285896.6_Missense_Mutation_p.M107V Q9UFF9 CNOT8_HUMAN CCR4-NOT transcription complex, subunit 8 107 negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 10 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TAGAGAGGACATGTACTCCCA 0.398000 16 7 0 0 0.006122 0 0 ARID2 196528 broad.mit.edu 37 12 46287258 46287258 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:46287258A>T ENST00000334344.6 + 19 5375 c.5203A>T c.(5203-5205)Aat>Tat p.N1735Y ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.N1586Y|ARID2_ENST00000457135.1_Missense_Mutation_p.N343Y|ARID2_ENST00000444670.1_Missense_Mutation_p.N1345Y NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1735 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GGCCATTGTGAATCATCCCAG 0.443000 """N, S, F""" hepatocellular carcinoma 3 20 0 0 0.009096 0 0 HIST2H2BA 337875 broad.mit.edu 37 1 120906281 120906281 + RNA SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:120906281G>A ENST00000430394.1 + 0 254 NR_027337.1 GAGGCGTCCCGCCTGGCGCAC 0.652000 53 308 0 0 0.014410 0 0 ZNF23 7571 broad.mit.edu 37 16 71483261 71483261 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:71483261G>A ENST00000393539.2 - 6 1480 c.667C>T c.(667-669)Ccc>Tcc p.P223S ZNF23_ENST00000417828.1_Missense_Mutation_p.P223S|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000428724.2_Missense_Mutation_p.P165S|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000357254.4_Missense_Mutation_p.P223S|ZNF23_ENST00000564528.1_Missense_Mutation_p.P165S|ZNF23_ENST00000497160.1_3'UTR NM_145911.1 NP_666016.1 P17027 ZNF23_HUMAN zinc finger protein 23 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) CATTTGAAGGGTTTCTCCCCA 0.438000 40 32 0 0 0.014410 0 0 COL6A6 131873 broad.mit.edu 37 3 130381085 130381085 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:130381085C>G ENST00000358511.6 + 34 6466 c.6435C>G c.(6433-6435)ggC>ggG p.G2145G COL6A6_ENST00000453409.2_Silent_p.G2145G NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 2145 Nonhelical region.|VWFA 9. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TCCAGCTTGGCCGAATTCATA 0.448000 18 116 0 0 0.005443 0 0 ATPAF1 64756 broad.mit.edu 37 1 47110887 47110887 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:47110887A>G ENST00000576409.1 - 7 761 c.699T>C c.(697-699)ttT>ttC p.F233F ATPAF1_ENST00000329231.4_Intron|ATPAF1_ENST00000532925.1_Silent_p.F122F|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000371937.4_Silent_p.F210F|ATPAF1_ENST00000542495.1_Silent_p.F59F Q5TC12 ATPF1_HUMAN ATP synthase mitochondrial F1 complex assembly factor 1 210 protein complex assembly mitochondrion protein binding endometrium(1)|kidney(1)|large_intestine(2)|lung(4) 8 Acute lymphoblastic leukemia(166;0.155) ATTGTCCTACAAAAAACTCAT 0.398000 15 48 0 0 0.006122 0 0 RBFOX1 54715 broad.mit.edu 37 16 7743327 7743327 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:7743327G>A ENST00000547372.1 + 15 1441 c.1135G>A c.(1135-1137)Gtc>Atc p.V379I RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V353I|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000553186.1_Intron|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V357I|RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V293I Q9NWB1 RFOX1_HUMAN RNA binding protein, fox-1 homolog (C. elegans) 1 336 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2) 55 AAATCAGTTCGTCTTCGTTGC 0.428000 12 53 0 0 0.002450 0 0 PPP1R36 145376 broad.mit.edu 37 14 65031546 65031546 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:65031546C>T ENST00000298705.1 + 4 356 c.260C>T c.(259-261)gCt>gTt p.A87V RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA NM_172365.1 NP_758953.1 Q96LQ0 CN050_HUMAN protein phosphatase 1, regulatory subunit 36 87 GATGGTCCAGCTTCAGACAGG 0.408000 41 67 0 0 0.014410 0 0 FOXB2 442425 broad.mit.edu 37 9 79635344 79635344 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:79635344G>A ENST00000376708.1 + 1 774 c.774G>A c.(772-774)gcG>gcA p.A258A NM_001013735.1 NP_001013757.1 Q5VYV0 FOXB2_HUMAN forkhead box B2 258 Poly-Ala. brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|lung(8)|ovary(1) 10 ctgccgccgcggccgcGGCGT 0.731000 16 20 0 0 0.004990 0 0 CNKSR3 154043 broad.mit.edu 37 6 154762424 154762424 + Splice_Site SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:154762424A>C ENST00000607772.1 - 4 1052 c.e4+1 CNKSR3_ENST00000479339.1_Splice_Site NM_173515.2 NP_775786.2 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 15 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CATACTACTGACCTTCTGGAC 0.378000 5 28 0 0 0.001984 0 0 OR52N5 390075 broad.mit.edu 37 11 5799737 5799737 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:5799737T>A ENST00000317093.2 - 1 160 c.128A>T c.(127-129)tAc>tTc p.Y43F TRIM5_ENST00000380027.1_Intron NM_001001922.2 NP_001001922.2 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, member 5 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) GAAGATGATGTACATTGTGCA 0.408000 44 36 0 0 0.014410 0 0 MEGF9 1955 broad.mit.edu 37 9 123421791 123421791 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:123421791C>T ENST00000373930.3 - 2 775 c.664G>A c.(664-666)Ggg>Agg p.G222R MEGF9_ENST00000426959.1_Missense_Mutation_p.G259R NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 222 Laminin EGF-like 1. 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 TCACACTGCCCTGTGGTCTGG 0.478000 8 11 0 0 0.006214 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68233024 68233024 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:68233024G>A ENST00000347230.4 - 32 6069 c.5931C>T c.(5929-5931)gaC>gaT p.D1977D ZFYVE26_ENST00000555452.1_Silent_p.D1977D NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 1977 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GCTTCATGATGTCCGTGAGCA 0.587000 45 128 0 0 0.014410 0 0 HSPA8 3312 broad.mit.edu 37 11 122929417 122929417 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:122929417G>A ENST00000534624.1 - 7 1721 c.1445C>T c.(1444-1446)gCc>gTc p.A482V HSPA8_ENST00000227378.3_Missense_Mutation_p.A482V|HSPA8_ENST00000533540.1_Missense_Mutation_p.A336V|HSPA8_ENST00000534319.1_Missense_Mutation_p.A246V|HSPA8_ENST00000532636.1_Missense_Mutation_p.A482V|HSPA8_ENST00000526110.1_Missense_Mutation_p.A463V|HSPA8_ENST00000453788.2_Intron NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 482 cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TATACCATTGGCATCAATGTC 0.448000 29 35 0 0 0.009535 0 0 RTL1 388015 broad.mit.edu 37 14 101351019 101351019 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:101351019G>A ENST00000534062.1 - 1 165 c.107C>T c.(106-108)aCg>aTg p.T36M NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 36 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 ACTGCCCGACGTCGCCTCGGT 0.587000 12 41 0 0 0.004990 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43218291 43218291 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr22:43218291G>C ENST00000263245.5 - 9 1016 c.797C>G c.(796-798)tCt>tGt p.S266C ARFGAP3_ENST00000429508.2_Missense_Mutation_p.S194C|ARFGAP3_ENST00000437119.2_Missense_Mutation_p.S222C NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 266 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TTCTTCTTTAGATACCACCTT 0.338000 19 12 0 0 0.012319 0 0 MYO7A 4647 broad.mit.edu 37 11 76915135 76915135 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:76915135A>G ENST00000409709.3 + 39 5613 c.5341A>G c.(5341-5343)Atg>Gtg p.M1781V MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.M1732V|MYO7A_ENST00000458637.2_Missense_Mutation_p.M1743V NM_000260.3 NP_000251.3 Q13402 MYO7A_HUMAN myosin VIIA 1781 MyTH4 2. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GCTCAAGTACATGGGCGACTA 0.617000 4 13 0 0 0.000602 0 0 ARAP2 116984 broad.mit.edu 37 4 36231078 36231078 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:36231078T>C ENST00000303965.4 - 2 520 c.31A>G c.(31-33)Ata>Gta p.I11V NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 11 SAM. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 AAATCTTTTATATCCACATTT 0.383000 8 35 0 0 0.010729 0 0 PLCB1 23236 broad.mit.edu 37 20 8862423 8862423 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:8862423T>G ENST00000338037.6 + 32 3605 c.3578T>G c.(3577-3579)gTg>gGg p.V1193G PLCB1_ENST00000378641.3_3'UTR NM_015192.2 NP_056007.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 1193 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CCTGGAAAAGTGAACCACAAG 0.502000 59 68 0 0 0.014410 0 0 PDPN 10630 broad.mit.edu 37 1 13933692 13933692 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:13933692A>T ENST00000294489.6 + 2 661 c.320A>T c.(319-321)gAc>gTc p.D107V PDPN_ENST00000513143.1_5'UTR|PDPN_ENST00000376057.4_Missense_Mutation_p.D107V|PDPN_ENST00000376061.4_5'UTR|PDPN_ENST00000475043.1_5'UTR|PDPN_ENST00000509009.1_Missense_Mutation_p.D26V|PDPN_ENST00000487038.1_5'UTR Q86YL7 PDPN_HUMAN podoplanin 31 cell morphogenesis|lymphangiogenesis|regulation of cell shape filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 16 Ovarian(185;0.249) all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678) CCAGAAGATGACACTGAGACT 0.517000 34 52 0 0 0.006999 0 0 SEL1L2 80343 broad.mit.edu 37 20 13856714 13856714 + Silent SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:13856714G>C ENST00000284951.5 - 12 1148 c.1074C>G c.(1072-1074)gcC>gcG p.A358A SEL1L2_ENST00000378072.5_Silent_p.A358A|SEL1L2_ENST00000486903.1_5'UTR Q5TEA6 SE1L2_HUMAN sel-1 suppressor of lin-12-like 2 (C. elegans) 358 integral to membrane binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 51 AGTACTTGAAGGCAGTAGCGT 0.388000 23 94 0 0 0.006320 0 0 FBXL5 26234 broad.mit.edu 37 4 15626988 15626988 + Silent SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:15626988A>C ENST00000341285.3 - 9 1861 c.1737T>G c.(1735-1737)ccT>ccG p.P579P FBXL5_ENST00000382358.4_Silent_p.P453P|FBXL5_ENST00000412094.2_Silent_p.P562P NM_001193534.1|NM_001193535.1|NM_012161.3 NP_001180463.1|NP_001180464.1|NP_036293.1 Q9UKA1 FBXL5_HUMAN F-box and leucine-rich repeat protein 5 579 iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|SCF ubiquitin ligase complex iron ion binding|protein binding|ubiquitin-protein ligase activity endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 13 CTTTTCCCCTAGGCAATCTAG 0.398000 8 10 0 0 0.006214 0 0 FBXL6 26233 broad.mit.edu 37 8 145579794 145579794 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:145579794G>T ENST00000331890.5 - 8 1370 c.1306C>A c.(1306-1308)Cag>Aag p.Q436K FBXL6_ENST00000455319.2_Missense_Mutation_p.Q430K|FBXL6_ENST00000526524.1_Intron NM_012162.2 NP_036294.2 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 436 proteolysis ubiquitin-protein ligase activity endometrium(1)|lung(3)|ovary(1) 5 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) CACCACTTCTGGGTCAAAAAG 0.592000 58 105 1.53134e-21 1.71696e-21 0.014410 1 0 ZNF385A 25946 broad.mit.edu 37 12 54765302 54765302 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:54765302T>C ENST00000546970.1 - 6 848 c.559A>G c.(559-561)Aag>Gag p.K187E ZNF385A_ENST00000352268.6_Intron|ZNF385A_ENST00000551771.1_Intron|ZNF385A_ENST00000551109.1_Missense_Mutation_p.K187E|ZNF385A_ENST00000338010.5_Missense_Mutation_p.K207E|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000394313.2_Missense_Mutation_p.K187E|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000552382.1_5'UTR Q96PM9 Z385A_HUMAN zinc finger protein 385A 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1) 15 ACAGCCACCTTGCACAGAGCA 0.612000 96 83 0 0 0.014410 0 0 MCMDC2 157777 broad.mit.edu 37 8 67803255 67803255 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:67803255T>C ENST00000422365.2 + 10 1400 c.1229T>C c.(1228-1230)aTa>aCa p.I410T MCMDC2_ENST00000541540.1_Missense_Mutation_p.I347T|MCMDC2_ENST00000313616.5_Missense_Mutation_p.I410T|MCMDC2_ENST00000396592.3_Missense_Mutation_p.I410T NM_173518.4 NP_775789.3 Q4G0Z9 CH045_HUMAN minichromosome maintenance domain containing 2 410 DNA replication ATP binding|DNA binding endometrium(2)|kidney(2)|lung(5) 9 ATCTGCTTTATAGGAGACTTG 0.368000 17 12 0 0 0.014323 0 0 STX12 23673 broad.mit.edu 37 1 28099877 28099877 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:28099877G>C ENST00000373943.4 + 1 184 c.59G>C c.(58-60)cGg>cCg p.R20P STX12_ENST00000468761.1_3'UTR NM_177424.2 NP_803173.1 Q86Y82 STX12_HUMAN syntaxin 12 20 cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) CCCCAGCTCCGGGACTTCAGC 0.657000 37 39 0 0 0.006999 0 0 JUP 3728 broad.mit.edu 37 17 39923802 39923802 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:39923802G>A ENST00000393931.3 - 5 856 c.738C>T c.(736-738)gcC>gcT p.A246A JUP_ENST00000310706.5_Silent_p.A246A|JUP_ENST00000540235.1_Silent_p.A246A|JUP_ENST00000393930.1_Silent_p.A246A NM_002230.2 NP_002221.1 P14923 PLAK_HUMAN junction plakoglobin 246 adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 23 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) GCGTGGTGATGGCATAGAACA 0.637000 24 85 0 0 0.003330 0 0 WNK1 65125 broad.mit.edu 37 12 989117 989117 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:989117G>T ENST00000315939.6 + 11 3395 c.2752G>T c.(2752-2754)Gca>Tca p.A918S WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.A1416S|WNK1_ENST00000340908.4_Missense_Mutation_p.A511S NM_018979.3 NP_061852.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 918 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CCTACAACCAGCAGTTCAGTC 0.512000 39 41 3.86236e-30 4.39715e-30 0.014410 1 0 KDM2B 84678 broad.mit.edu 37 12 121947735 121947735 + Nonsense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:121947735C>A ENST00000377069.4 - 11 1595 c.1189G>T c.(1189-1191)Gag>Tag p.E397* KDM2B_ENST00000538046.2_Nonsense_Mutation_p.E338*|KDM2B_ENST00000377071.4_Nonsense_Mutation_p.E428*|KDM2B_ENST00000536437.1_Nonsense_Mutation_p.E311* NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 428 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 CCCTCGCcctcctcgtccttc 0.647000 12 34 4.14922e-12 4.4933e-12 0.004007 1 0 ZC3H10 84872 broad.mit.edu 37 12 56515604 56515604 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:56515604T>C ENST00000257940.2 + 3 1534 c.1258T>C c.(1258-1260)Tac>Cac p.Y420H RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 420 nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) CATGGTGACTTACCCTATCGC 0.602000 45 31 0 0 0.014410 0 0 GPR75 10936 broad.mit.edu 37 2 54080390 54080390 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:54080390G>T ENST00000394705.2 - 2 1774 c.1504C>A c.(1504-1506)Cca>Aca p.P502T ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 502 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GAGTTTACTGGCTGTAAGTTA 0.458000 29 93 2.61193e-14 2.86345e-14 0.009535 1 0 FUT8 2530 broad.mit.edu 37 14 66028339 66028339 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:66028339A>C ENST00000360689.5 + 3 1785 c.58A>C c.(58-60)Acc>Ccc p.T20P FUT8_ENST00000394585.1_Missense_Mutation_p.T20P|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.T20P|FUT8_ENST00000358307.2_Intron NM_004480.4|NM_178155.2 NP_004471.4|NP_835368.1 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 (alpha (1,6) fucosyltransferase) 20 in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2) 22 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) TGCCTGGGGGACCTTGCTGTT 0.473000 70 52 0 0 0.014410 0 0 TMEM53 79639 broad.mit.edu 37 1 45120323 45120323 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:45120323C>T ENST00000372237.3 - 3 905 c.742G>A c.(742-744)Gtg>Atg p.V248M TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.V218M|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372242.3_Intron NM_024587.2 NP_078863.2 Q6P2H8 TMM53_HUMAN transmembrane protein 53 248 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1) 10 Acute lymphoblastic leukemia(166;0.155) GCAGATGACACGAAATCCACA 0.592000 118 134 0 0 0.014410 0 0 MAMSTR 284358 broad.mit.edu 37 19 49217717 49217717 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:49217717T>A ENST00000318083.6 - 7 692 c.629A>T c.(628-630)gAg>gTg p.E210V MAMSTR_ENST00000377367.3_Intron|MAMSTR_ENST00000419611.1_Missense_Mutation_p.E107V|MAMSTR_ENST00000356751.4_Missense_Mutation_p.E107V|MAMSTR_ENST00000594582.1_Intron Q6ZN01 MASTR_HUMAN MEF2 activating motif and SAP domain containing transcriptional regulator 210 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(1)|ovary(1) 2 CTTcggccgctcgcggggcgg 0.766000 8 4 0 0 0.003080 0 0 FAM84A 151354 broad.mit.edu 37 2 14774804 14774804 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:14774804C>T ENST00000295092.2 + 2 989 c.701C>T c.(700-702)gCa>gTa p.A234V FAM84A_ENST00000331243.4_Missense_Mutation_p.A234V NM_145175.2 NP_660158.2 Q96KN4 FA84A_HUMAN family with sequence similarity 84, member A 234 endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(1;0.00969) GAGGTGCCGGCAGGCACGCAG 0.642000 11 5 0 0 0.001855 0 0 KIF21A 55605 broad.mit.edu 37 12 39763563 39763563 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:39763563G>T ENST00000395670.3 - 3 837 c.418C>A c.(418-420)Cca>Aca p.P140T KIF21A_ENST00000541463.2_Missense_Mutation_p.P140T|KIF21A_ENST00000361418.5_Missense_Mutation_p.P140T|KIF21A_ENST00000361961.3_Missense_Mutation_p.P140T|KIF21A_ENST00000544797.2_Missense_Mutation_p.P140T Q7Z4S6 KI21A_HUMAN kinesin family member 21A 140 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TTAAAATCTGGAGCAGGAAGC 0.299000 4 8 2.56e-06 2.64951e-06 0.009096 1 0 RNFT1 51136 broad.mit.edu 37 17 58040588 58040588 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:58040588C>T ENST00000305783.8 - 2 169 c.114G>A c.(112-114)atG>atA p.M38I RNFT1_ENST00000442346.2_Start_Codon_SNP_p.M1I|RP11-178C3.1_ENST00000591035.1_Intron NM_016125.3 NP_057209.3 Q5M7Z0 RNFT1_HUMAN ring finger protein, transmembrane 1 38 integral to membrane zinc ion binding large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;7.95e-12)|all cancers(12;1.34e-10) GATTGGCTTGCATGGCCCTTA 0.453000 11 40 0 0 0.013537 0 0 RPGRIP1L 23322 broad.mit.edu 37 16 53698905 53698905 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:53698905G>C ENST00000262135.4 - 10 1213 c.1120C>G c.(1120-1122)Cat>Gat p.H374D RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.H374D|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.H374D|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.H374D NM_001127897.1 NP_001121369.1 Q68CZ1 FTM_HUMAN RPGRIP1-like 374 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) TGCTCTTCATGGGCAGCACTG 0.438000 15 17 0 0 0.006122 0 0 TNC 3371 broad.mit.edu 37 9 117846585 117846585 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:117846585G>T ENST00000350763.4 - 4 2445 c.2034C>A c.(2032-2034)atC>atA p.I678I TNC_ENST00000537320.1_Silent_p.I678I|TNC_ENST00000535648.1_Silent_p.I678I|TNC_ENST00000341037.4_Silent_p.I678I|TNC_ENST00000340094.3_Silent_p.I678I|TNC_ENST00000542877.1_Silent_p.I678I|TNC_ENST00000423613.2_Silent_p.I678I|TNC_ENST00000345230.3_Silent_p.I678I|TNC_ENST00000346706.3_Silent_p.I678I NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 678 Fibronectin type-III 1. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GCTCCTGGATGATGGTGGACG 0.572000 14 43 3.41278e-10 3.63375e-10 0.004990 1 0 CDH23 64072 broad.mit.edu 37 10 73574769 73574769 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:73574769C>T ENST00000224721.6 + 69 9819 c.9814C>T c.(9814-9816)Cgc>Tgc p.R3272C CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R1027C NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 3267 calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGGTAGCCTGCGCTTCCGCCA 0.667000 15 86 0 0 0.006122 0 0 GPR123 84435 broad.mit.edu 37 10 134912182 134912182 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:134912182T>A ENST00000607359.1 + 13 2330 c.2330T>A c.(2329-2331)cTg>cAg p.L777Q GPR123_ENST00000392607.3_Missense_Mutation_p.L57Q Q86SQ6 GP123_HUMAN G protein-coupled receptor 123 57 integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3) 14 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) CACACGCTCCTGAATTTCTGC 0.652000 88 45 0 0 0.014410 0 0 TTN 7273 broad.mit.edu 37 2 179472309 179472309 + Silent SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:179472309A>C ENST00000589042.1 - 277 53330 c.53106T>G c.(53104-53106)ccT>ccG p.P17702P TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.P8637P|TTN_ENST00000342992.6_Silent_p.P15134P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P16061P|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.P8762P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.P8829P NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16061 Fibronectin type-III 28. 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) ATACTTTTGTAGGTACAGGGC 0.453000 41 134 0 0 0.014410 0 0 AGR2 10551 broad.mit.edu 37 7 16834567 16834567 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:16834567T>C ENST00000419304.2 - 7 623 c.471A>G c.(469-471)acA>acG p.T157T AGR2_ENST00000419572.2_Silent_p.T177T|AGR2_ENST00000401412.1_Silent_p.T157T NM_006408.3 NP_006399.1 O95994 AGR2_HUMAN anterior gradient 2 157 mucus secretion endoplasmic reticulum|extracellular region protein binding endometrium(2)|lung(1)|prostate(1)|skin(2) 6 Lung NSC(10;0.0376)|all_lung(11;0.0855) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) TACACAGAGCTGTATCTGCAG 0.448000 14 49 0 0 0.004007 0 0 QRICH2 84074 broad.mit.edu 37 17 74283886 74283886 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:74283886G>A ENST00000262765.5 - 6 3572 c.3393C>T c.(3391-3393)gtC>gtT p.V1131V NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 1131 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 TTTACCTGAGGACACCCAGCT 0.557000 12 49 0 0 0.002450 0 0 R3HDM1 23518 broad.mit.edu 37 2 136409597 136409597 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:136409597C>T ENST00000264160.4 + 17 2288 c.1918C>T c.(1918-1920)Cca>Tca p.P640S R3HDM1_ENST00000409478.1_Missense_Mutation_p.P512S|R3HDM1_ENST00000409606.1_Missense_Mutation_p.P641S|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P585S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P511S NM_001282798.1|NM_015361.2 NP_001269727.1|NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 640 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) GCAGCCATCACCACAGGTATA 0.443000 34 33 0 0 0.005524 0 0 BPIFB4 149954 broad.mit.edu 37 20 31688261 31688261 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:31688261A>G ENST00000375483.3 + 12 1599 c.1599A>G c.(1597-1599)acA>acG p.T533T NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 533 cytoplasm|extracellular region lipid binding CATTTTCCACAGAAGGAGATA 0.527000 5 33 0 0 0.003163 0 0 ODAM 54959 broad.mit.edu 37 4 71068501 71068501 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:71068501A>G ENST00000396094.2 + 9 725 c.677A>G c.(676-678)cAa>cGa p.Q226R NM_017855.3 NP_060325.3 A1E959 ODAM_HUMAN odontogenic, ameloblast asssociated 226 biomineral tissue development|odontogenesis of dentine-containing tooth fibril NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2) 20 CCATATTTACAAAAAGAAGCG 0.388000 7 13 0 0 0.003080 0 0 CRB1 23418 broad.mit.edu 37 1 197390711 197390711 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:197390711G>C ENST00000367400.3 + 6 1888 c.1753G>C c.(1753-1755)Gac>Cac p.D585H CRB1_ENST00000538660.1_Missense_Mutation_p.D585H|CRB1_ENST00000544212.1_Missense_Mutation_p.D66H|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Missense_Mutation_p.D516H|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000367399.2_Missense_Mutation_p.D473H NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 585 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CTTAATCGACGACTCCTGTAA 0.453000 20 24 0 0 0.008871 0 0 KIAA0754 643314 broad.mit.edu 37 1 39876847 39876847 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:39876847C>G ENST00000530275.1 + 1 697 c.502C>G c.(502-504)Cat>Gat p.H168D MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000361689.2_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 168 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TCCAGAATTGCATGTTCTCAT 0.522000 OREG0013393 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 15 0 0 0.004482 0 0 DDX5 1655 broad.mit.edu 37 17 62499626 62499626 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:62499626A>C ENST00000225792.5 - 6 972 c.571T>G c.(571-573)Tgt>Ggt p.C191G DDX5_ENST00000578804.1_Missense_Mutation_p.C191G|DDX5_ENST00000450599.2_Missense_Mutation_p.C112G NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 191 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) CATGCTCTACAATATTCAGCA 0.463000 T ETV4 prostate 18 45 0 0 0.002780 0 0 ZFP82 284406 broad.mit.edu 37 19 36883875 36883875 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:36883875C>T ENST00000392161.3 - 5 1609 c.1367G>A c.(1366-1368)gGc>gAc p.G456D ZFP82_ENST00000392171.1_Missense_Mutation_p.G456D NM_133466.2 NP_597723.1 Q8N141 ZFP82_HUMAN ZFP82 zinc finger protein 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 AAAGGCCTTGCCACATTCCTT 0.418000 14 9 0 0 0.001855 0 0 FBXO11 80204 broad.mit.edu 37 2 48061799 48061799 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:48061799C>T ENST00000403359.3 - 7 925 c.853G>A c.(853-855)Gat>Aat p.D285N FBXO11_ENST00000402508.1_Missense_Mutation_p.D201N|FBXO11_ENST00000316377.4_Missense_Mutation_p.D201N NM_001190274.1 NP_001177203.1 Q86XK2 FBX11_HUMAN F-box protein 11 285 ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|ubiquitin ligase complex protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding p.0?(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ATAAGTCCATCAAAATGAGCC 0.328000 """Mis, F, D""" DLBCL 7 14 0 0 0.008291 0 0 RFWD2 64326 broad.mit.edu 37 1 176133011 176133011 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:176133011A>G ENST00000367669.3 - 4 1096 c.582T>C c.(580-582)ctT>ctC p.L194L RFWD2_ENST00000308769.8_Silent_p.L194L NM_022457.5 NP_071902.2 Q8NHY2 RFWD2_HUMAN ring finger and WD repeat domain 2, E3 ubiquitin protein ligase 194 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest centrosome|cytosol|focal adhesion|nuclear speck protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 GCTTCTGTTTAAGAATGAGTT 0.289000 2 7 0 0 0.004672 0 0 MDC1 9656 broad.mit.edu 37 6 30672554 30672554 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:30672554G>T ENST00000376406.3 - 10 5053 c.4406C>A c.(4405-4407)cCt>cAt p.P1469H MDC1_ENST00000376405.2_Missense_Mutation_p.P1205H|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1469 Interaction with the PRKDC complex.|Pro-rich. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 CTGAGACGTAGGCTCAGGGGT 0.562000 Other conserved DNA damage response genes 81 108 4.21773e-46 4.92809e-46 0.014410 1 0 LLGL2 3993 broad.mit.edu 37 17 73569202 73569202 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:73569202C>T ENST00000392550.3 + 20 2685 c.2568C>T c.(2566-2568)gcC>gcT p.A856A LLGL2_ENST00000167462.5_Silent_p.A856A|LLGL2_ENST00000577200.1_Silent_p.A856A NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 856 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) GTCGTCGAGCCGAGGACTACG 0.657000 64 82 0 0 0.014410 0 0 ZNF233 353355 broad.mit.edu 37 19 44777421 44777421 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:44777421T>C ENST00000391958.2 + 5 735 c.608T>C c.(607-609)gTa>gCa p.V203A ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) CAAATTGATGTAAAAAATAAG 0.378000 7 9 0 0 0.003080 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227259910 227259910 + Splice_Site SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:227259910C>T ENST00000366769.3 - 20 4117 c.2826G>A c.(2824-2826)aaG>aaA p.K942K CDC42BPA_ENST00000334218.5_Splice_Site_p.K942K|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366767.3_Splice_Site_p.K861K|CDC42BPA_ENST00000366765.3_Splice_Site_p.K942K|CDC42BPA_ENST00000535525.1_Splice_Site_p.K942K|CDC42BPA_ENST00000366766.2_Splice_Site_p.K942K|CDC42BPA_ENST00000366764.2_Splice_Site_p.K942K NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 942 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) CTCCCATACCCTTTTCAGATC 0.348000 8 18 0 0 0.010729 0 0 CIT 11113 broad.mit.edu 37 12 120288006 120288006 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:120288006G>T ENST00000392521.2 - 5 543 c.488C>A c.(487-489)gCc>gAc p.A163D CIT_ENST00000261833.7_Missense_Mutation_p.A163D NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 163 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GTCCTGAAAGGCATACTGTAA 0.428000 60 75 2.93416e-43 3.41933e-43 0.014410 1 0 MDN1 23195 broad.mit.edu 37 6 90422326 90422326 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:90422326G>A ENST00000369393.3 - 48 7513 c.7398C>T c.(7396-7398)aaC>aaT p.N2466N MDN1_ENST00000428876.1_Silent_p.N2466N Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 2466 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TGCTCATCCTGTTGAGACAAT 0.468000 41 52 0 0 0.014410 0 0 ARRDC1 92714 broad.mit.edu 37 9 140508609 140508609 + Silent SNP C C G rs145510266 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:140508609C>G ENST00000371421.4 + 5 625 c.561C>G c.(559-561)gcC>gcG p.A187A ARRDC1_ENST00000491911.1_3'UTR NM_152285.2 NP_689498.1 Q8N5I2 ARRD1_HUMAN arrestin domain containing 1 187 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464) AGCTGCATGCCGACGTTGAGA 0.642000 340 356 0 0 0.014410 0 0 SYNE2 23224 broad.mit.edu 37 14 64408416 64408416 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:64408416A>G ENST00000358025.3 + 4 375 c.145A>G c.(145-147)Act>Gct p.T49A SYNE2_ENST00000344113.4_Missense_Mutation_p.T49A|SYNE2_ENST00000341472.5_Missense_Mutation_p.T49A|SYNE2_ENST00000554584.1_Missense_Mutation_p.T49A|SYNE2_ENST00000356081.3_Missense_Mutation_p.T49A|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 49 Actin-binding.|CH 1. 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) TCTGCAGCACACTTCTCCCTC 0.373000 7 42 0 0 0.004482 0 0 FLVCR1 28982 broad.mit.edu 37 1 213032442 213032442 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:213032442C>T ENST00000366971.4 + 1 846 c.648C>T c.(646-648)ttC>ttT p.F216F NM_014053.3 NP_054772.1 Q9Y5Y0 FLVC1_HUMAN feline leukemia virus subgroup C cellular receptor 1 216 cell death|cellular iron ion homeostasis|heme export|transmembrane transport integral to plasma membrane heme transporter activity|protein binding|receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2) 12 OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11) CCCAGGTGTTCATCCTGGGCT 0.607000 46 67 0 0 0.014410 0 0 SPEF2 79925 broad.mit.edu 37 5 35779431 35779431 + Nonsense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:35779431T>G ENST00000440995.2 + 30 4415 c.4415T>G c.(4414-4416)tTa>tGa p.L1472* CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_5'UTR|SPEF2_ENST00000356031.3_Nonsense_Mutation_p.L1477* Q9C093 SPEF2_HUMAN sperm flagellar 2 1477 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GATCAGTTCTTAGATATGGCA 0.398000 31 26 0 0 0.004878 0 0 PRG4 10216 broad.mit.edu 37 1 186280667 186280667 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:186280667G>A ENST00000445192.2 + 10 3777 c.3732G>A c.(3730-3732)gtG>gtA p.V1244V PRG4_ENST00000367484.3_Silent_p.V773V|PRG4_ENST00000367486.3_Silent_p.V1201V|PRG4_ENST00000367483.4_Silent_p.V1203V|PRG4_ENST00000367485.4_Silent_p.V1151V NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 1244 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GACAAATAGTGGCAGCGCTTT 0.363000 7 16 0 0 0.003080 0 0 EPB41 2035 broad.mit.edu 37 1 29314319 29314319 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:29314319G>A ENST00000343067.4 + 2 497 c.370G>A c.(370-372)Gaa>Aaa p.E124K EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373798.1_Missense_Mutation_p.E124K|EPB41_ENST00000373797.1_Missense_Mutation_p.E124K|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.E124K|EPB41_ENST00000356093.2_Missense_Mutation_p.E124K|EPB41_ENST00000347529.3_Missense_Mutation_p.E124K NM_001166005.1 NP_001159477.1 P11171 41_HUMAN erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) 124 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) CAGTCTTGATGAAGAGATCAT 0.423000 13 36 0 0 0.003163 0 0 ZNF329 79673 broad.mit.edu 37 19 58639356 58639356 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:58639356A>T ENST00000598312.1 - 4 1748 c.1515T>A c.(1513-1515)caT>caA p.H505Q ZNF329_ENST00000358067.4_Missense_Mutation_p.H505Q NM_024620.3 NP_078896.3 Q86UD4 ZN329_HUMAN zinc finger protein 329 505 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) CCTCCCTGCTATGGAGTCTCT 0.512000 64 83 0 0 0.014410 0 0 ZNF697 90874 broad.mit.edu 37 1 120166097 120166097 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:120166097A>T ENST00000421812.2 - 3 988 c.869T>A c.(868-870)cTg>cAg p.L290Q NM_001080470.1 NP_001073939.1 Q5TEC3 ZN697_HUMAN zinc finger protein 697 290 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577) GTCGGCGCACAGGTTGGGCCG 0.706000 21 17 0 0 0.004656 0 0 HNRNPUL1 11100 broad.mit.edu 37 19 41808694 41808694 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:41808694C>T ENST00000392006.3 + 12 1985 c.1812C>T c.(1810-1812)ccC>ccT p.P604P HNRNPUL1_ENST00000602130.1_Silent_p.P604P|HNRNPUL1_ENST00000352456.3_Silent_p.P504P|HNRNPUL1_ENST00000593587.1_Silent_p.P504P|HNRNPUL1_ENST00000595018.1_Silent_p.P504P|HNRNPUL1_ENST00000263367.3_Silent_p.P515P|HNRNPUL1_ENST00000378215.4_Silent_p.P490P NM_007040.3 NP_008971.2 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 604 Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 29 CTGGGCCACCCCCTGAAAAGC 0.627000 18 55 0 0 0.008871 0 0 SLFNL1 200172 broad.mit.edu 37 1 41486281 41486281 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:41486281C>T ENST00000359345.1 - 1 2628 c.52G>A c.(52-54)Gag>Aag p.E18K SLFNL1_ENST00000372613.2_Missense_Mutation_p.E18K|SLFNL1_ENST00000439569.2_Missense_Mutation_p.E18K|SLFNL1_ENST00000302946.8_Missense_Mutation_p.E18K|SLFNL1_ENST00000372611.1_Missense_Mutation_p.E18K|SLFNL1_ENST00000397197.2_Missense_Mutation_p.E18K NM_144990.3 NP_659427.3 Q499Z3 SLNL1_HUMAN schlafen-like 1 18 ATP binding endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0393) CCCCAGGACTCCATGAAGGGC 0.607000 67 62 0 0 0.014410 0 0 LRRC47 57470 broad.mit.edu 37 1 3697775 3697775 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:3697775G>A ENST00000378251.1 - 7 1656 c.1629C>T c.(1627-1629)gaC>gaT p.D543D NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 543 translation phenylalanine-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GGGAGGGCCCGTCCTTTCCAG 0.572000 43 101 0 0 0.014410 0 0 MYO1E 4643 broad.mit.edu 37 15 59548521 59548521 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:59548521G>A ENST00000288235.4 - 4 693 c.294C>T c.(292-294)aaC>aaT p.N98N MYO1E_ENST00000558814.1_5'UTR NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 98 Myosin head-like. actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) CAATGATCATGTTTCTGTACA 0.348000 10 26 0 0 0.001855 0 0 FASTKD1 79675 broad.mit.edu 37 2 170393745 170393745 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:170393745T>C ENST00000453153.2 - 12 2526 c.2180A>G c.(2179-2181)cAc>cGc p.H727R FASTKD1_ENST00000453929.2_Missense_Mutation_p.H684R|FASTKD1_ENST00000495505.1_Intron NM_024622.3 NP_078898.3 Q53R41 FAKD1_HUMAN FAST kinase domains 1 727 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3) 37 ACCTACTTTGTGGTAATAAGG 0.333000 27 33 0 0 0.003755 0 0 AFF3 3899 broad.mit.edu 37 2 100343579 100343579 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:100343579C>T ENST00000409236.2 - 9 1163 c.1051G>A c.(1051-1053)Gca>Aca p.A351T AFF3_ENST00000356421.2_Missense_Mutation_p.A376T|AFF3_ENST00000409579.1_Missense_Mutation_p.A376T|AFF3_ENST00000317233.4_Missense_Mutation_p.A351T P51826 AFF3_HUMAN AF4/FMR2 family, member 3 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 TCTGGCTCTGCATCACCTTTC 0.353000 10 11 0 0 0.010729 0 0 NOTCH2 4853 broad.mit.edu 37 1 120529583 120529583 + Splice_Site SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:120529583C>T ENST00000256646.2 - 5 1093 c.874G>A c.(874-876)Gga>Aga p.G292R NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 292 EGF-like 7; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGTACATACCTGTCCATTGT 0.458000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 37 44 0 0 0.014410 0 0 NECAP1 25977 broad.mit.edu 37 12 8245362 8245362 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:8245362C>G ENST00000339754.5 + 5 552 c.474C>G c.(472-474)acC>acG p.T158T NM_015509.3 NP_056324.2 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 158 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Kidney(36;0.0915) AAGGACAAACCATCAAGTTGT 0.403000 9 13 0 0 0.013537 0 0 FICD 11153 broad.mit.edu 37 12 108912880 108912880 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:108912880A>G ENST00000552695.1 + 3 1240 c.1005A>G c.(1003-1005)gtA>gtG p.V335V FICD_ENST00000361549.2_3'UTR NM_007076.2 NP_009007.2 Q9BVA6 FICD_HUMAN FIC domain containing 335 Fido. negative regulation of Rho GTPase activity integral to membrane binding|protein adenylyltransferase activity NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2) 15 AGGAGTTTGTACAGTGGCTCA 0.542000 43 38 0 0 0.013114 0 0 RRP8 23378 broad.mit.edu 37 11 6621449 6621449 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:6621449C>T ENST00000254605.6 - 7 1415 c.1298G>A c.(1297-1299)gGg>gAg p.G433E RRP8_ENST00000534343.1_Missense_Mutation_p.G117E NM_015324.3 NP_056139.1 O43159 RRP8_HUMAN ribosomal RNA processing 8, methyltransferase, homolog (yeast) 433 chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2) 13 CAGAGGGGGCCCAGTCTTTTG 0.522000 24 21 0 0 0.007291 0 0 CLIC3 9022 broad.mit.edu 37 9 139890163 139890163 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:139890163C>G ENST00000494426.1 - 2 339 c.80G>C c.(79-81)cGg>cCg p.R27P CLIC3_ENST00000480181.1_5'UTR NM_004669.2 NP_004660.2 O95833 CLIC3_HUMAN chloride intracellular channel 3 27 GST N-terminal.|Required for insertion into the membrane (By similarity). signal transduction chloride channel complex|cytoplasm|nucleus protein binding|voltage-gated chloride channel activity lung(1)|skin(1) 2 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) CATGAAGAGCCGCTGGCAGGA 0.697000 11 31 0 0 0.002450 0 0 PKD1L1 168507 broad.mit.edu 37 7 47892757 47892757 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:47892757A>G ENST00000289672.2 - 31 4978 c.4928T>C c.(4927-4929)gTg>gCg p.V1643A NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1643 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 ATAAATCTGCACAATTGACTC 0.388000 24 70 0 0 0.005524 0 0 ZNF749 388567 broad.mit.edu 37 19 57956154 57956154 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:57956154C>G ENST00000334181.4 + 3 1888 c.1638C>G c.(1636-1638)caC>caG p.H546Q AC004076.9_ENST00000596831.1_Intron NM_001023561.2 NP_001018855.2 O43361 ZN749_HUMAN zinc finger protein 749 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1) 13 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177) TCATTCAACACAAGAGGATTG 0.463000 8 22 0 0 0.008291 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142513586 142513586 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:142513586C>G ENST00000378004.3 + 19 2108 c.1753C>G c.(1753-1755)Cgg>Ggg p.R585G ARHGAP26_ENST00000274498.4_Missense_Mutation_p.R585G NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 585 Ser-rich. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCACCTGTCTCGGAAGAAGAG 0.537000 125 41 0 0 0.014410 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540952 133540952 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:133540952A>G ENST00000409261.1 - 14 3805 c.3432T>C c.(3430-3432)acT>acC p.T1144T NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1144T|NCKAP5_ENST00000409213.1_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1144 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 CTGGAAGGCGAGTTTTCAGTC 0.483000 13 49 0 0 0.003163 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113563350 113563350 + Splice_Site SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:113563350G>A ENST00000358160.4 + 2 520 c.28G>A c.(28-30)Gtg>Atg p.V10M GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 10 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 TTGTTTCCAGGTGATGAATGA 0.323000 9 20 0 0 0.006214 0 0 RB1 5925 broad.mit.edu 37 13 49050846 49050846 + Nonsense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:49050846A>T ENST00000267163.4 + 25 2668 c.2530A>T c.(2530-2532)Aag>Tag p.K844* RB1_ENST00000484879.1_3'UTR NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 844 Domain C; mediates interaction with E4F1.|Interaction with LIMD1. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(11) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GACTTCTGAGAAGTTCCAGAA 0.363000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 5 4 0 0 0.001984 0 0 CSF2RB 1439 broad.mit.edu 37 22 37318275 37318275 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr22:37318275C>A ENST00000262825.5 + 2 243 c.26C>A c.(25-27)tCc>tAc p.S9Y CSF2RB_ENST00000406230.1_Missense_Mutation_p.S9Y|CSF2RB_ENST00000403662.3_Missense_Mutation_p.S9Y NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 9 respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) GGGCTGCTCTCCATGGCCCTG 0.672000 20 6 4.22769e-11 4.54503e-11 0.006320 1 0 APC2 10297 broad.mit.edu 37 19 1462114 1462114 + Silent SNP C C T rs142142534 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:1462114C>T ENST00000535453.1 + 13 3504 c.1791C>T c.(1789-1791)atC>atT p.I597I APC2_ENST00000238483.4_Silent_p.I323I|C19orf25_ENST00000588427.1_Intron|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Silent_p.I597I O95996 APC2_HUMAN adenomatosis polyposis coli 2 597 negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGCCATCATCGAGAGCGGCG 0.667000 37 128 0 0 0.014410 0 0 PKP4 8502 broad.mit.edu 37 2 159517954 159517954 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:159517954G>A ENST00000389757.3 + 13 2328 c.2203G>A c.(2203-2205)Gac>Aac p.D735N AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.D735N NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 735 cell adhesion desmosome protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 ATCCGATTACGACAGCAAGGT 0.572000 HNSCC(62;0.18) 28 140 0 0 0.004878 0 0 USP15 9958 broad.mit.edu 37 12 62785202 62785202 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:62785202G>A ENST00000280377.5 + 16 2284 c.2226G>A c.(2224-2226)agG>agA p.R742R USP15_ENST00000353364.3_Silent_p.R713R|USP15_ENST00000393654.3_Silent_p.R717R NM_001252078.1 NP_001239007.1 Q9Y4E8 UBP15_HUMAN ubiquitin specific peptidase 15 742 protein deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 37 GBM - Glioblastoma multiforme(1;0.000276) GBM - Glioblastoma multiforme(28;0.0622) GGCAGCTTAGGCTAGATGGTA 0.343000 17 9 0 0 0.002780 0 0 ITIH5 80760 broad.mit.edu 37 10 7621948 7621948 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:7621948C>A ENST00000256861.6 - 9 1266 c.1188G>T c.(1186-1188)cgG>cgT p.R396R ITIH5_ENST00000446830.2_Silent_p.R178R|ITIH5_ENST00000397146.2_Silent_p.R396R|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Silent_p.R396R|ITIH5_ENST00000298441.6_Silent_p.R182R NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 396 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 GGGACACGCTCCGGTCTCCAA 0.632000 44 38 8.20599e-20 9.15442e-20 0.011902 1 0 EFCAB7 84455 broad.mit.edu 37 1 64021038 64021038 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:64021038T>C ENST00000371088.4 + 9 1312 c.1066T>C c.(1066-1068)Tgg>Cgg p.W356R EFCAB7_ENST00000461039.1_3'UTR NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 356 calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 GGTGTTTGGATGGACTGGTGA 0.343000 34 22 0 0 0.014410 0 0 TOP2A 7153 broad.mit.edu 37 17 38560701 38560701 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:38560701C>A ENST00000423485.1 - 18 2247 c.2089G>T c.(2089-2091)Gac>Tac p.D697Y NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 697 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) TTGATGAAGTCATTATATGTC 0.363000 9 20 0.010729 0.010876 0.010729 1 0 FOXRED2 80020 broad.mit.edu 37 22 36902136 36902136 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr22:36902136T>C ENST00000397224.4 - 2 427 c.334A>G c.(334-336)Aga>Gga p.R112G FOXRED2_ENST00000216187.6_Missense_Mutation_p.R112G|FOXRED2_ENST00000397223.4_Missense_Mutation_p.R112G NM_001102371.1 NP_001095841.1 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 112 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 GAGTAGTGTCTGAAGAGCAGC 0.627000 96 52 0 0 0.014410 0 0 LYZ 4069 broad.mit.edu 37 12 69746950 69746950 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:69746950G>A ENST00000261267.2 + 4 466 c.398G>A c.(397-399)cGt>cAt p.R133H LYZ_ENST00000549690.1_Missense_Mutation_p.V107I NM_000239.2 NP_000230.1 P61626 LYSC_HUMAN lysozyme 133 cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response extracellular space lysozyme activity|protein binding endometrium(2)|lung(1)|upper_aerodigestive_tract(1) 4 all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187) Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241) TGGAGAAATCGTTGTCAAAAC 0.398000 27 40 0 0 0.013726 0 0 HEATR4 399671 broad.mit.edu 37 14 73964942 73964942 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:73964942G>T ENST00000553558.1 - 14 2784 c.2463C>A c.(2461-2463)atC>atA p.I821I HEATR4_ENST00000560393.1_Silent_p.I774I|HEATR4_ENST00000334988.2_Silent_p.I821I NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TCAGGGCTAGGATGCTACGGC 0.537000 29 22 4.65686e-17 5.15623e-17 0.003755 1 0 CYP3A4 1576 broad.mit.edu 37 7 99375680 99375680 + Missense_Mutation SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:99375680T>G ENST00000336411.2 - 3 372 c.189A>C c.(187-189)gaA>gaC p.E63D CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 63 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) TTTTATGACATTCCATGTCAA 0.368000 11 18 0 0 0.010729 0 0 LRRN2 10446 broad.mit.edu 37 1 204587882 204587882 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:204587882G>A ENST00000367175.1 - 1 3451 c.1239C>T c.(1237-1239)ttC>ttT p.F413F LRRN2_ENST00000367177.3_Silent_p.F413F|LRRN2_ENST00000367176.3_Silent_p.F413F O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 413 LRRCT. cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TCATCTCCCGGAAGGGCACCT 0.662000 20 67 0 0 0.010504 0 0 DPYSL2 1808 broad.mit.edu 37 8 26509890 26509890 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:26509890C>T ENST00000311151.5 + 12 1811 c.1399C>T c.(1399-1401)Cgc>Tgc p.R467C DPYSL2_ENST00000523027.1_Missense_Mutation_p.R431C|DPYSL2_ENST00000521913.1_Missense_Mutation_p.R431C NM_001386.5 NP_001377.1 Q16555 DPYL2_HUMAN dihydropyrimidinase-like 2 467 axon guidance|pyrimidine base catabolic process|signal transduction cytosol dihydropyrimidinase activity|protein binding breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1) 20 all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183) AGGCTCTGGACGCTACATTCC 0.522000 19 45 0 0 0.010504 0 0 NDRG4 65009 broad.mit.edu 37 16 58538110 58538110 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:58538110C>T ENST00000394282.4 + 5 743 c.336C>T c.(334-336)acC>acT p.T112T NDRG4_ENST00000569923.1_Silent_p.T5T|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000568640.1_Silent_p.T78T|NDRG4_ENST00000563799.1_Silent_p.T78T|NDRG4_ENST00000394279.2_Silent_p.T92T|NDRG4_ENST00000258187.5_Silent_p.T92T|NDRG4_ENST00000566192.1_Silent_p.T60T|NDRG4_ENST00000562999.1_Silent_p.T60T|NDRG4_ENST00000356752.4_Silent_p.T90T|NDRG4_ENST00000570248.1_Silent_p.T60T NM_001130487.1 NP_001123959.1 Q9ULP0 NDRG4_HUMAN NDRG family member 4 60 cell differentiation|cell growth|multicellular organismal development|response to stress cytoplasm breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 11 AGGAGATCACCAAGCACTTTG 0.572000 39 179 0 0 0.008740 0 0 INSL4 3641 broad.mit.edu 37 9 5231528 5231528 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:5231528C>T ENST00000239316.4 + 1 110 c.5C>T c.(4-6)gCc>gTc p.A2V NM_002195.1 NP_002186.1 Q14641 INSL4_HUMAN insulin-like 4 (placenta) 2 cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction extracellular space|soluble fraction hormone activity|insulin-like growth factor receptor binding endometrium(2)|lung(2)|skin(1)|urinary_tract(1) 6 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14) TCCAGGATGGCCAGCCTGTTC 0.557000 28 31 0 0 0.005524 0 0 PRPF18 8559 broad.mit.edu 37 10 13655788 13655788 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:13655788T>C ENST00000378572.3 + 7 787 c.627T>C c.(625-627)taT>taC p.Y209Y NM_003675.3 NP_003666.1 Q99633 PRP18_HUMAN pre-mRNA processing factor 18 209 mRNA processing|RNA splicing nuclear speck|spliceosomal complex central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1) 17 GAGAAGATTATGTGAAACGCA 0.453000 10 41 0 0 0.010729 0 0 TCIRG1 10312 broad.mit.edu 37 11 67816717 67816717 + Missense_Mutation SNP C C T rs141780643 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:67816717C>T ENST00000265686.3 + 15 1951 c.1843C>T c.(1843-1845)Ctc>Ttc p.L615F TCIRG1_ENST00000532635.1_Missense_Mutation_p.L399F NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 615 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 CAACATGTTCCTCTTCTCCCA 0.657000 51 175 0 0 0.014410 0 0 FNDC3B 64778 broad.mit.edu 37 3 172064198 172064198 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:172064198A>T ENST00000336824.4 + 20 2431 c.2332A>T c.(2332-2334)Aca>Tca p.T778S FNDC3B_ENST00000415807.2_Missense_Mutation_p.T778S|FNDC3B_ENST00000416957.1_Missense_Mutation_p.T778S NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 778 Fibronectin type-III 6. endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) TATTTCTTGTACACCTGATGG 0.423000 17 68 0 0 0.002780 0 0 AP4B1 10717 broad.mit.edu 37 1 114442966 114442966 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:114442966T>C ENST00000369569.1 - 5 954 c.674A>G c.(673-675)tAc>tGc p.Y225C AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000256658.4_Missense_Mutation_p.Y225C|AP4B1_ENST00000369566.3_Missense_Mutation_p.Y132C|AP4B1_ENST00000369567.1_Missense_Mutation_p.Y57C NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 subunit 225 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3) 25 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCGGGGTTGGTAGCGTAGCAG 0.423000 21 29 0 0 0.006320 0 0 GPR97 222487 broad.mit.edu 37 16 57719645 57719645 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:57719645C>T ENST00000333493.4 + 11 1508 c.1347C>T c.(1345-1347)gtC>gtT p.V449V GPR97_ENST00000450388.3_Silent_p.V329V|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000327655.6_Silent_p.V239V NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 449 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GCATGGTGGTCCTGGCCCTGG 0.592000 21 80 0 0 0.010504 0 0 ATP8B3 148229 broad.mit.edu 37 19 1785276 1785276 + Nonsense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:1785276G>C ENST00000539485.1 - 27 3677 c.3444C>G c.(3442-3444)taC>taG p.Y1148* ATP8B3_ENST00000310127.6_Nonsense_Mutation_p.Y1138*|ATP8B3_ENST00000525591.1_Nonsense_Mutation_p.Y1101* O60423 AT8B3_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 3 1138 ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGCGGTCCAGTACTTGATGA 0.607000 4 27 0 0 0.001168 0 0 XIRP2 129446 broad.mit.edu 37 2 168100156 168100156 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:168100156C>T ENST00000409195.1 + 9 2343 c.2254C>T c.(2254-2256)Ctg>Ttg p.L752L XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.L530L|XIRP2_ENST00000295237.9_Silent_p.L752L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 577 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 GGGCCAAATGCTGGAAATTAA 0.368000 4 24 0 0 0.000602 0 0 UROC1 131669 broad.mit.edu 37 3 126220791 126220791 + Splice_Site SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:126220791C>G ENST00000383579.3 - 10 936 c.903G>C c.(901-903)agG>agC p.R301S UROC1_ENST00000290868.2_Intron NM_001165974.1 NP_001159446.1 Q96N76 HUTU_HUMAN urocanate hydratase 1 301 histidine catabolic process cytosol urocanate hydratase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1) 39 GBM - Glioblastoma multiforme(114;0.17) GCTGAAGGACCCTGTGGGAAC 0.607000 5 61 0 0 0.000602 0 0 ITGA2B 3674 broad.mit.edu 37 17 42455071 42455071 + Missense_Mutation SNP C C A rs146445219 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:42455071C>A ENST00000262407.5 - 21 2213 c.2182G>T c.(2182-2184)Gcc>Tcc p.A728S ITGA2B_ENST00000353281.4_Missense_Mutation_p.A728S NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 728 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CTCACCTGGGCGTTCTTCTTC 0.542000 12 51 0.000308642 0.000315028 0.003163 1 0 NIM1K 167359 broad.mit.edu 37 5 43277375 43277375 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:43277375A>T ENST00000512796.1 + 3 2008 c.509A>T c.(508-510)gAa>gTa p.E170V NIM1_ENST00000326035.2_Missense_Mutation_p.E170V Q8IY84 NIM1_HUMAN 170 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity AAGCTCTCTGAACCAGAAAGC 0.532000 29 77 0 0 0.006230 0 0 CPAMD8 27151 broad.mit.edu 37 19 17012070 17012070 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:17012070C>G ENST00000443236.1 - 36 4895 c.4864G>C c.(4864-4866)Gag>Cag p.E1622Q NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 1575 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 AGGGGCACCTCCAGGACAGCC 0.607000 21 25 0 0 0.004656 0 0 PLA2R1 22925 broad.mit.edu 37 2 160876633 160876633 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:160876633A>G ENST00000283243.7 - 8 1642 c.1436T>C c.(1435-1437)gTc>gCc p.V479A PLA2R1_ENST00000392771.1_Missense_Mutation_p.V479A NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 479 C-type lectin 2. 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 CTCTGCTGAGACACACAGCTG 0.453000 12 20 0 0 0.002450 0 0 KCTD2 23510 broad.mit.edu 37 17 73043506 73043506 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:73043506C>T ENST00000322444.6 + 1 167 c.161C>T c.(160-162)cCg>cTg p.P54L KCTD2_ENST00000584767.1_Intron|KCTD2_ENST00000581589.1_Intron NM_015353.1 NP_056168.1 Q14681 KCTD2_HUMAN potassium channel tetramerization domain containing 2 54 P -> R (in Ref. 1; BAA11493). voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|lung(2) 3 all_lung(278;0.226) gtcgcgcagccgctggagccg 0.811000 8 5 0 0 0.003080 0 0 FBLN2 2199 broad.mit.edu 37 3 13659771 13659771 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:13659771G>T ENST00000404922.3 + 6 2044 c.1925G>T c.(1924-1926)cGc>cTc p.R642L FBLN2_ENST00000492059.1_Missense_Mutation_p.R642L|FBLN2_ENST00000295760.7_Missense_Mutation_p.R642L|FBLN2_ENST00000535798.1_Missense_Mutation_p.R668L NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 642 EGF-like 1; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent 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) GACGATGGCCGCACTTGCCGC 0.617000 19 50 3.62473e-10 3.85019e-10 0.012319 1 0 ALX1 8092 broad.mit.edu 37 12 85694982 85694982 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:85694982C>A ENST00000316824.3 + 4 865 c.710C>A c.(709-711)aCt>aAt p.T237N NM_006982.2 NP_008913.2 Q15699 ALX1_HUMAN ALX homeobox 1 237 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1) 26 GBM - Glioblastoma multiforme(134;0.134) TCTGTGGTTACTTCATGCATG 0.408000 30 39 1.04594e-18 1.1639e-18 0.006230 1 0 ZNF28 7576 broad.mit.edu 37 19 53311303 53311303 + Nonsense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:53311303G>T ENST00000457749.2 - 3 218 c.99C>A c.(97-99)taC>taA p.Y33* ZNF28_ENST00000594602.1_Nonsense_Mutation_p.Y33*|ZNF28_ENST00000339844.6_5'UTR|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000464469.2_5'UTR NM_006969.3 NP_008900.3 P17035 ZNF28_HUMAN zinc finger protein 28 33 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TCACATCCCTGTAAAGAGTCC 0.483000 7 77 5.18039e-06 5.34906e-06 0.003080 1 0 SLC30A7 148867 broad.mit.edu 37 1 101362198 101362198 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:101362198G>A ENST00000370112.4 + 2 340 c.153G>A c.(151-153)gtG>gtA p.V51V SLC30A7_ENST00000357650.4_Silent_p.V51V NM_001144884.1|NM_133496.4 NP_001138356.1|NP_598003.2 Q8NEW0 ZNT7_HUMAN solute carrier family 30 (zinc transporter), member 7 51 zinc ion transport Golgi apparatus|integral to membrane cation transmembrane transporter activity|protein binding endometrium(3)|large_intestine(2)|lung(10) 15 all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119) Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201) TCGCTTTTGTGGAACTACTCT 0.502000 7 19 0 0 0.003080 0 0 IGHE 3497 broad.mit.edu 37 14 106066348 106066348 + RNA SNP T T C rs1134594 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:106066348T>C ENST00000412518.1 - 0 28 IGHE_ENST00000576077.1_RNA|IGHE_ENST00000577108.1_RNA GTCTGGCCAGTCCTCCCCACT 0.597000 12 185 0 0 0.010504 0 0 MAPRE2 10982 broad.mit.edu 37 18 32621508 32621508 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:32621508C>T ENST00000300249.5 + 1 185 c.5C>T c.(4-6)cCt>cTt p.P2L MAPRE2_ENST00000436190.2_Intron|MAPRE2_ENST00000588910.1_Missense_Mutation_p.P2L|MAPRE2_ENST00000413393.1_Intron|MAPRE2_ENST00000538170.2_5'UTR NM_014268.3 NP_055083.1 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 2 cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 GCGCCAATGCCTGGGCCGACC 0.612000 75 83 0 0 0.014410 0 0 OR4A16 81327 broad.mit.edu 37 11 55111294 55111294 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:55111294G>A ENST00000314721.2 + 1 668 c.618G>A c.(616-618)atG>atA p.M206I NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 TAATTTGTATGGTCATCTTTA 0.438000 15 86 0 0 0.002450 0 0 AGO1 26523 broad.mit.edu 37 1 36367599 36367599 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:36367599C>A ENST00000373204.4 + 10 1404 c.1191C>A c.(1189-1191)atC>atA p.I397I AGO1_ENST00000373206.1_Silent_p.I322I NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 AATTTGGGATCAAAGTGAAGG 0.542000 38 64 1.22674e-20 1.37198e-20 0.008740 1 0 PAH 5053 broad.mit.edu 37 12 103246694 103246694 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:103246694G>A ENST00000553106.1 - 7 1213 c.741C>T c.(739-741)ggC>ggT p.G247G PAH_ENST00000307000.2_Silent_p.G242G NM_000277.1 NP_000268.1 P00439 PH4H_HUMAN phenylalanine hydroxylase 247 G -> V (in PKU; haplotype 4). catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process cytosol phenylalanine 4-monooxygenase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1) 27 Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360) AGGAAAGCAGGCCAGCCACAG 0.537000 11 18 0 0 0.003163 0 0 MAST2 23139 broad.mit.edu 37 1 46497147 46497147 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:46497147C>A ENST00000361297.2 + 24 3360 c.3077C>A c.(3076-3078)gCc>gAc p.A1026D MAST2_ENST00000372009.2_Missense_Mutation_p.A956D NM_015112.2 NP_055927.2 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 2 1026 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) GTGCGTAGGGCCCGCCACCGG 0.627000 32 96 1.57351e-24 1.7732e-24 0.003755 1 0 ITPR3 3710 broad.mit.edu 37 6 33623613 33623613 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:33623613T>C ENST00000374316.5 + 4 1291 c.231T>C c.(229-231)acT>acC p.T77T ITPR3_ENST00000605930.1_Silent_p.T77T Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 77 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 CCAAGCAGACTAAGCAGGACA 0.572000 52 71 0 0 0.014410 0 0 ICOSLG 23308 broad.mit.edu 37 21 45656811 45656811 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr21:45656811C>A ENST00000407780.3 - 3 472 c.345G>T c.(343-345)gtG>gtT p.V115V ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.V115V|ICOSLG_ENST00000344330.4_Silent_p.V115V NM_001283052.1 NP_001269981.1 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand 115 Ig-like V-type. B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding endometrium(2)|lung(1)|stomach(1)|urinary_tract(1) 5 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) ATTGGCTCAACACCAGGCAGT 0.607000 57 90 7.75977e-34 8.90268e-34 0.014410 1 0 STON1 11037 broad.mit.edu 37 2 48809237 48809237 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:48809237A>G ENST00000309835.3 + 1 1475 c.1465A>G c.(1465-1467)Aag>Gag p.K489E STON1_ENST00000404752.1_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.K489E|STON1_ENST00000406226.1_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.K489E stonin 1 NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2) 37 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CCATTTTCATAAGTGTGTGAA 0.378000 17 14 0 0 0.004007 0 0 CUL9 23113 broad.mit.edu 37 6 43156452 43156452 + Splice_Site SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:43156452A>C ENST00000252050.4 + 8 2263 c.2179A>C c.(2179-2181)Aga>Cga p.R727R CUL9_ENST00000354495.3_Splice_Site_p.R617R|CUL9_ENST00000372647.2_Splice_Site_p.R727R NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 727 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CAGATCGCTGAGGTTAGCATA 0.552000 34 67 0 0 0.013114 0 0 MYH11 4629 broad.mit.edu 37 16 15818266 15818266 + Splice_Site SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:15818266G>C ENST00000452625.2 - 32 4225 c.4138C>G c.(4138-4140)Ctc>Gtc p.L1380V NDE1_ENST00000396354.1_3'UTR|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396355.1_3'UTR|MYH11_ENST00000396324.3_Splice_Site_p.L1380V|MYH11_ENST00000576790.2_Splice_Site_p.L1373V|MYH11_ENST00000300036.5_Splice_Site_p.L1373V|NDE1_ENST00000342673.5_3'UTR NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 1373 axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GAGTCGGAGAGCTACAAGGAC 0.582000 T CBFB AML 14 45 0 0 0.004007 0 0 DCHS1 8642 broad.mit.edu 37 11 6652344 6652344 + Silent SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:6652344T>A ENST00000299441.3 - 9 4281 c.3870A>T c.(3868-3870)acA>acT p.T1290T RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1290 Cadherin 12. 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) GAGCACTCAGTGTCAGCACAT 0.622000 13 21 0 0 0.004007 0 0 FZR1 51343 broad.mit.edu 37 19 3534500 3534500 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:3534500C>T ENST00000441788.2 + 13 1665 c.1429C>T c.(1429-1431)Cgt>Tgt p.R477C FZR1_ENST00000313639.8_Missense_Mutation_p.R388C|FZR1_ENST00000395095.3_Missense_Mutation_p.R477C NM_016263.3 NP_057347.2 Q9UM11 FZR_HUMAN fizzy/cell division cycle 20 related 1 (Drosophila) 477 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) TAGCAAAACCCGTTCGACAAA 0.627000 4 12 0 0 0.009096 0 0 NRXN2 9379 broad.mit.edu 37 11 64480980 64480980 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:64480980C>A ENST00000265459.6 - 2 653 c.192G>T c.(190-192)gcG>gcT p.A64A NRXN2_ENST00000377559.3_Silent_p.A64A|NRXN2_ENST00000377551.1_Silent_p.A64A|NRXN2_ENST00000409571.1_Silent_p.A64A NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 64 Laminin G-like 1. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 AGAGCAGCAGCGCGCGCGTGG 0.751000 13 5 2.35188e-11 2.53455e-11 0.006122 1 0 ITGA2B 3674 broad.mit.edu 37 17 42455070 42455070 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:42455070G>T ENST00000262407.5 - 21 2214 c.2183C>A c.(2182-2184)gCc>gAc p.A728D ITGA2B_ENST00000353281.4_Missense_Mutation_p.A728D NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 728 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CCTCACCTGGGCGTTCTTCTT 0.542000 12 49 1.52009e-12 1.65017e-12 0.003163 1 0 YIPF1 54432 broad.mit.edu 37 1 54354635 54354635 + Silent SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:54354635T>A ENST00000539954.1 - 2 208 c.51A>T c.(49-51)atA>atT p.I17I YIPF1_ENST00000072644.1_5'UTR|YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000469457.1_5'UTR Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 0 integral to membrane|transport vesicle endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2) 19 TTCTCCCAATTATGAGGAAGA 0.363000 21 16 0 0 0.002780 0 0 RANBP2 5903 broad.mit.edu 37 2 109380497 109380497 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:109380497G>T ENST00000283195.6 + 20 3628 c.3502G>T c.(3502-3504)Gac>Tac p.D1168Y NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1168 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGATGATGATGACGGTCCTCA 0.443000 8 63 1.12685e-05 1.15815e-05 0.004482 1 0 C7 730 broad.mit.edu 37 5 40972587 40972587 + Silent SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:40972587G>C ENST00000313164.9 + 15 2324 c.1965G>C c.(1963-1965)gtG>gtC p.V655V NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 655 Sushi 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex p.V655V(1) Ovarian(839;0.0112) GTGAGAAGGTGACTGTTTCCT 0.473000 7 70 0 0 0.003080 0 0 SSTR1 6751 broad.mit.edu 37 14 38679681 38679681 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:38679681T>C ENST00000267377.2 + 3 1704 c.1087T>C c.(1087-1089)Tac>Cac p.Y363H NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 363 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GAGCCGTGCCTACAGTGTGGA 0.617000 118 62 0 0 0.014410 0 0 THAP11 57215 broad.mit.edu 37 16 67876805 67876805 + Silent SNP A A G rs28434205 byFrequency TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:67876805A>G ENST00000303596.1 + 1 593 c.348A>G c.(346-348)caA>caG p.Q116Q CENPT_ENST00000562787.1_Intron NM_020457.2 NP_065190.2 Q96EK4 THA11_HUMAN THAP domain containing 11 116 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|identical protein binding|metal ion binding p.Q116Q(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 8 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118) aacagcagcaacagcagcagc 0.682000 20 128 0 0 0.010504 0 0 OCIAD1 54940 broad.mit.edu 37 4 48859275 48859275 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:48859275C>G ENST00000381473.3 + 8 1011 c.593C>G c.(592-594)aCa>aGa p.T198R OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000264312.7_Missense_Mutation_p.T198R|OCIAD1_ENST00000444354.2_Intron|OCIAD1_ENST00000396448.2_Intron|OCIAD1_ENST00000509122.1_Missense_Mutation_p.T171R|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000508293.1_Missense_Mutation_p.T198R|OCIAD1_ENST00000513391.2_Missense_Mutation_p.T198R|OCIAD1_ENST00000425583.2_Intron NM_001079839.2 NP_001073308.1 Q9NX40 OCAD1_HUMAN OCIA domain containing 1 198 endosome protein binding breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2) 9 AAAAATATTACATATGAGGAA 0.333000 5 6 0 0 0.001984 0 0 SERINC1 57515 broad.mit.edu 37 6 122775333 122775333 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:122775333A>G ENST00000339697.4 - 4 498 c.414T>C c.(412-414)atT>atC p.I138I NM_020755.2 NP_065806.1 Q9NRX5 SERC1_HUMAN serine incorporator 1 phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane L-serine transmembrane transporter activity|protein binding endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(1) 13 GBM - Glioblastoma multiforme(226;0.126) AGAATGCCCCAATAATAATTG 0.249000 5 6 0 0 0.003080 0 0 ABCA1 19 broad.mit.edu 37 9 107593948 107593948 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:107593948C>T ENST00000374736.3 - 13 2064 c.1670G>A c.(1669-1671)cGa>cAa p.R557Q NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 557 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AATGTCCATTCGGATCTTGTA 0.488000 13 14 0 0 0.001855 0 0 LPO 4025 broad.mit.edu 37 17 56327935 56327935 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:56327935C>G ENST00000262290.4 + 7 1049 c.733C>G c.(733-735)Cag>Gag p.Q245E LPO_ENST00000582328.1_Missense_Mutation_p.Q162E|LPO_ENST00000421678.2_Missense_Mutation_p.Q162E|LPO_ENST00000543544.1_Missense_Mutation_p.Q186E NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 245 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 CTCCAAAGCCCAGTGTGATGA 0.557000 37 27 0 0 0.010771 0 0 CIT 11113 broad.mit.edu 37 12 120288005 120288005 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:120288005G>T ENST00000392521.2 - 5 544 c.489C>A c.(487-489)gcC>gcA p.A163A CIT_ENST00000261833.7_Silent_p.A163A NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 163 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGTCCTGAAAGGCATACTGTA 0.428000 60 75 4.00405e-42 4.64177e-42 0.014410 1 0 TRIM31 11074 broad.mit.edu 37 6 30071549 30071549 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:30071549C>T ENST00000376734.3 - 9 1167 c.1042G>A c.(1042-1044)Ggg>Agg p.G348R TRIM31_ENST00000540829.1_Missense_Mutation_p.G348R NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 348 mitochondrion ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2) 15 TTTGGTGGCCCCGATGTAGTT 0.567000 42 128 0 0 0.014410 0 0 PHLPP2 23035 broad.mit.edu 37 16 71706188 71706188 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:71706188C>A ENST00000393524.2 - 9 2242 c.1509G>T c.(1507-1509)ctG>ctT p.L503L PHLPP2_ENST00000568954.1_Silent_p.L503L|PHLPP2_ENST00000360429.3_Silent_p.L503L|PHLPP2_ENST00000567016.1_Silent_p.L538L|PHLPP2_ENST00000356272.3_Silent_p.L503L Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 503 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 AGAAAGTGAGCAGGCTGGGTA 0.438000 11 26 2.48551e-13 2.71814e-13 0.004990 1 0 KIAA1324 57535 broad.mit.edu 37 1 109731742 109731742 + Nonsense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:109731742G>A ENST00000369939.3 + 10 1457 c.1274G>A c.(1273-1275)tGg>tAg p.W425* KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.W338* NM_020775.4 NP_065826 Q6UXG2 K1324_HUMAN KIAA1324 425 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) GAATACAAATGGTGGAACACG 0.527000 30 30 0 0 0.003271 0 0 HSD17B14 51171 broad.mit.edu 37 19 49316713 49316713 + Splice_Site SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:49316713C>T ENST00000263278.4 - 8 905 c.639G>A c.(637-639)caG>caA p.Q213Q HSD17B14_ENST00000599157.1_Splice_Site_p.Q189Q NM_016246.2 NP_057330.2 Q9BPX1 DHB14_HUMAN hydroxysteroid (17-beta) dehydrogenase 14 213 steroid catabolic process centrosome|cytosol estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity large_intestine(3)|lung(1)|skin(1) 5 all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346) CCACTTCTACCTGGGCCAGCA 0.607000 6 3 0 0 0.004482 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6086641 6086641 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:6086641T>C ENST00000199389.6 - 5 677 c.531A>G c.(529-531)ggA>ggG p.G177G EIF2AK1_ENST00000536084.1_Silent_p.G53G NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 177 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) CTCTTCCGTATCCACCTTTTC 0.333000 33 15 0 0 0.009718 0 0 KDM6A 7403 broad.mit.edu 37 X 44922670 44922670 + Nonsense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chrX:44922670A>T ENST00000377967.4 + 16 1572 c.1531A>T c.(1531-1533)Aga>Tga p.R511* KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R518*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R432*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R466* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 511 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TTGACAGATGAGACCAACAGG 0.433000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 42 8 0 0 0.014410 0 0 FZD7 8324 broad.mit.edu 37 2 202899544 202899544 + Silent SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:202899544G>C ENST00000286201.1 + 1 235 c.174G>C c.(172-174)acG>acC p.T58T NM_003507.1 NP_003498.1 O75084 FZD7_HUMAN frizzled family receptor 7 58 FZ. axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 31 CGCTGTGCACGGACATCGCCT 0.672000 61 188 0 0 0.014410 0 0 SV2B 9899 broad.mit.edu 37 15 91769791 91769791 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:91769791G>T ENST00000394232.1 + 2 768 c.298G>T c.(298-300)Gat>Tat p.D100Y SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.D100Y|SV2B_ENST00000545111.2_Intron NM_014848.4 NP_055663.1 Q7L1I2 SV2B_HUMAN synaptic vesicle glycoprotein 2B 100 neurotransmitter transport acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(78;0.0987)|all_lung(78;0.172) BRCA - Breast invasive adenocarcinoma(143;0.0895) GACCATCATGGATGAGTGTGG 0.587000 14 33 4.36969e-10 4.63041e-10 0.001855 1 0 EPHA2 1969 broad.mit.edu 37 1 16456035 16456035 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:16456035G>T ENST00000358432.5 - 16 2873 c.2719C>A c.(2719-2721)Cgc>Agc p.R907S NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 907 Negatively regulates interaction with ARHGEF16.|SAM. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GACACCGTGCGGAAGGGCACC 0.637000 74 59 1.66795e-42 1.93866e-42 0.014410 1 0 REN 5972 broad.mit.edu 37 1 204124152 204124152 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:204124152C>T ENST00000367195.2 - 9 1247 c.1204G>A c.(1204-1206)Gcc>Acc p.A402T REN_ENST00000272190.8_Missense_Mutation_p.A405T P00797 RENI_HUMAN renin 405 angiotensin maturation|regulation of MAPKKK cascade extracellular space|membrane aspartic-type endopeptidase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1) 19 all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) Aliskiren(DB01258)|Remikiren(DB00212) CCTCAGCGGGCCAAGGCGAAG 0.647000 18 66 0 0 0.003330 0 0 RAD51C 5889 broad.mit.edu 37 17 56780655 56780655 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:56780655T>C ENST00000337432.4 + 4 741 c.670T>C c.(670-672)Tat>Cat p.Y224H RAD51C_ENST00000487921.1_3'UTR|RAD51C_ENST00000583539.1_Missense_Mutation_p.Y224H NM_058216.1 NP_478123.1 O43502 RA51C_HUMAN RAD51 paralog C 224 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity upper_aerodigestive_tract(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGCACAAGTTTATCTTCTTCC 0.348000 Homologous recombination Hereditary Breast-Ovarian Cancer, non-BRCA1/2 10 27 0 0 0.013537 0 0 ZZZ3 26009 broad.mit.edu 37 1 78050334 78050334 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:78050334C>T ENST00000370801.3 - 6 1987 c.1512G>A c.(1510-1512)caG>caA p.Q504Q ZZZ3_ENST00000370798.1_Silent_p.Q10Q|ZZZ3_ENST00000476275.1_5'UTR NM_015534.4 NP_056349.1 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2) 39 GTAATAGTCTCTGATAACTAC 0.373000 7 17 0 0 0.003080 0 0 FSTL5 56884 broad.mit.edu 37 4 162697123 162697123 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:162697123G>A ENST00000306100.5 - 5 949 c.513C>T c.(511-513)gaC>gaT p.D171D FSTL5_ENST00000379164.4_Silent_p.D170D|FSTL5_ENST00000427802.2_Silent_p.D170D|FSTL5_ENST00000536695.1_Silent_p.D170D NM_001128427.2|NM_020116.4 NP_001121899.1|NP_064501.2 Q8N475 FSTL5_HUMAN follistatin-like 5 171 extracellular region calcium ion binding p.D171D(1) central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) GAGATATGTCGTCGCCATTAG 0.303000 5 9 0 0 0.000602 0 0 WASF2 10163 broad.mit.edu 37 1 27745578 27745578 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:27745578C>T ENST00000430629.2 - 3 357 c.142G>A c.(142-144)Gag>Aag p.E48K WASF2_ENST00000536657.1_Missense_Mutation_p.E48K NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 48 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) AAAATGTCCTCTGCATATTTA 0.443000 7 35 0 0 0.008291 0 0 FUZ 80199 broad.mit.edu 37 19 50315535 50315535 + Silent SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:50315535T>C ENST00000313777.4 - 3 454 c.291A>G c.(289-291)agA>agG p.R97R FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000526575.1_Intron|FUZ_ENST00000445575.2_Silent_p.R97R|FUZ_ENST00000528094.1_Intron|FUZ_ENST00000533418.1_Silent_p.R47R NM_025129.4 NP_079405.2 Q9BT04 FUZZY_HUMAN fuzzy planar cell polarity protein 97 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton endometrium(1)|lung(3) 4 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) TTTGGAGTAGTCTCTCCAGCC 0.507000 8 16 0 0 0.004482 0 0 GUSB 2990 broad.mit.edu 37 7 65439384 65439384 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:65439384A>C ENST00000304895.4 - 8 1419 c.1289T>G c.(1288-1290)aTg>aGg p.M430R GUSB_ENST00000421103.1_Missense_Mutation_p.M284R|GUSB_ENST00000345660.6_Missense_Mutation_p.M379R NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 430 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 CACTTCTTCCATCACCTGCAT 0.607000 126 183 0 0 0.014410 0 0 MDN1 23195 broad.mit.edu 37 6 90353822 90353822 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:90353822A>G ENST00000369393.3 - 102 16808 c.16693T>C c.(16693-16695)Tac>Cac p.Y5565H MDN1_ENST00000428876.1_Missense_Mutation_p.Y5565H Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 5565 VWFA. protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) ATGATATAGTATGGGAATGGG 0.448000 12 46 0 0 0.002450 0 0 ATXN3 4287 broad.mit.edu 37 14 92555135 92555135 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:92555135C>G ENST00000545170.1 - 6 482 c.414G>C c.(412-414)acG>acC p.T138T ATXN3_ENST00000340660.6_Silent_p.T83T|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000503767.1_Silent_p.T123T|ATXN3_ENST00000532032.1_Silent_p.T138T|ATXN3_ENST00000429774.2_Silent_p.T123T|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Silent_p.T138T NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5 NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2 P54252 ATX3_HUMAN ataxin 3 138 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) ATTCTGGACCCGTCAAGAGAG 0.318000 59 43 0 0 0.014410 0 0 S1PR5 53637 broad.mit.edu 37 19 10625203 10625203 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:10625203G>A ENST00000439028.3 - 2 610 c.485C>T c.(484-486)tCg>tTg p.S162L S1PR5_ENST00000333430.4_Missense_Mutation_p.S162L NM_001166215.1 NP_001159687.1 Q9H228 S1PR5_HUMAN sphingosine-1-phosphate receptor 5 162 integral to membrane|plasma membrane lysosphingolipid and lysophosphatidic acid receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 12 GAGGAGCAGCGACACGCCCCA 0.726000 9 9 0 0 0.010729 0 0 GRIN1 2902 broad.mit.edu 37 9 140052946 140052946 + Missense_Mutation SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:140052946G>T ENST00000371561.3 + 7 2181 c.1084G>T c.(1084-1086)Gtg>Ttg p.V362L GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.V362L|GRIN1_ENST00000371555.4_Missense_Mutation_p.V383L|GRIN1_ENST00000350902.5_Missense_Mutation_p.V362L|GRIN1_ENST00000371560.3_Missense_Mutation_p.V383L|GRIN1_ENST00000371546.4_Missense_Mutation_p.V383L|GRIN1_ENST00000371550.4_Missense_Mutation_p.V362L|GRIN1_ENST00000371553.3_Missense_Mutation_p.V383L|GRIN1_ENST00000315048.3_Missense_Mutation_p.V362L NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 362 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CCGCAAGCTGGTGCAAGTGGG 0.617000 25 80 1.16021e-09 1.22359e-09 0.007291 1 0 POLH 5429 broad.mit.edu 37 6 43571701 43571701 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:43571701C>T ENST00000372236.4 + 7 1132 c.837C>T c.(835-837)acC>acT p.T279T POLH_ENST00000372226.1_Silent_p.T279T|POLH_ENST00000535400.1_Silent_p.T217T NM_006502.2 NP_006493.1 Q9Y253 POLH_HUMAN polymerase (DNA directed), eta 279 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) GTGAACTGACCCAGTTCACTG 0.408000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 14 23 0 0 0.007413 0 0 TMBIM4 51643 broad.mit.edu 37 12 66531850 66531850 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:66531850G>A ENST00000358230.3 - 7 727 c.607C>T c.(607-609)Cat>Tat p.H203Y TMBIM4_ENST00000542724.1_Missense_Mutation_p.H172Y|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.H250Y|TMBIM4_ENST00000544599.1_Missense_Mutation_p.H26Y NM_016056.2 NP_057140.2 Q9HC24 TMBI4_HUMAN transmembrane BAX inhibitor motif containing 4 203 integral to membrane protein binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2) 9 GBM - Glioblastoma multiforme(28;0.0745) GACAGTTTATGCATCAGTGAG 0.413000 8 33 0 0 0.008291 0 0 WNK1 65125 broad.mit.edu 37 12 994164 994164 + Silent SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:994164C>T ENST00000537687.1 + 19 5617 c.4974C>T c.(4972-4974)ctC>ctT p.L1658L WNK1_ENST00000535572.1_Silent_p.L1151L|WNK1_ENST00000315939.6_Silent_p.L1398L|WNK1_ENST00000530271.2_Silent_p.L1896L|WNK1_ENST00000340908.4_Silent_p.L991L NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1398 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CAGGTGGTCTCCCCATACCAC 0.478000 34 34 0 0 0.004878 0 0 DHX34 9704 broad.mit.edu 37 19 47879304 47879304 + Nonsense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:47879304C>T ENST00000328771.4 + 11 2780 c.2431C>T c.(2431-2433)Cag>Tag p.Q811* NM_014681.5 NP_055496.2 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 811 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) CCTGTACCCACAGCTGGCCGT 0.657000 31 97 0 0 0.006999 0 0 CHD3 1107 broad.mit.edu 37 17 7788214 7788214 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:7788214G>C ENST00000380358.4 + 1 91 c.90G>C c.(88-90)gaG>gaC p.E30D LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 445 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) agggcgacgaggaggaggagg 0.682000 2 3 0 0 0.004672 0 0 PRKDC 5591 broad.mit.edu 37 8 48817520 48817520 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:48817520T>C ENST00000314191.2 - 26 3007 c.2951A>G c.(2950-2952)tAt>tGt p.Y984C PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Y984C NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 984 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TAGTGGCTCATACAGTTGCCT 0.358000 Non-homologous end-joining 19 19 0 0 0.003330 0 0 TOP2A 7153 broad.mit.edu 37 17 38556598 38556598 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:38556598T>C ENST00000423485.1 - 23 3021 c.2863A>G c.(2863-2865)Aca>Gca p.T955A NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 955 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) CTATAGTCTGTTATGAGAGGA 0.378000 11 15 0 0 0.001855 0 0 CR1 1378 broad.mit.edu 37 1 207679368 207679368 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:207679368C>G ENST00000367049.4 + 2 241 c.241C>G c.(241-243)Ccg>Gcg p.P81A CR1_ENST00000367051.1_Missense_Mutation_p.P81A|CR1_ENST00000367052.1_Missense_Mutation_p.P81A|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367053.1_Missense_Mutation_p.P81A|CR1_ENST00000400960.2_Missense_Mutation_p.P81A NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 81 Sushi 1. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTCCGGAAGACCGTTTTCTAT 0.473000 8 44 0 0 0.004482 0 0 NELL2 4753 broad.mit.edu 37 12 44917077 44917077 + Silent SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:44917077A>G ENST00000429094.2 - 17 2499 c.1995T>C c.(1993-1995)tgT>tgC p.C665C NELL2_ENST00000549027.1_Silent_p.C664C|NELL2_ENST00000452445.2_Silent_p.C665C|NELL2_ENST00000395487.2_Silent_p.C664C|NELL2_ENST00000551601.1_Silent_p.C617C|NELL2_ENST00000437801.2_Silent_p.C715C|NELL2_ENST00000333837.4_Silent_p.C688C NM_001145108.1 NP_001138580.1 Q99435 NELL2_HUMAN NEL-like 2 (chicken) 665 VWFC 3. cell adhesion extracellular region calcium ion binding|protein binding|structural molecule activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 Lung SC(27;0.192) Lung NSC(34;0.144) GBM - Glioblastoma multiforme(48;0.092) TACCAACCTGACATGAGCACA 0.358000 35 65 0 0 0.004289 0 0 CC2D1B 200014 broad.mit.edu 37 1 52821951 52821951 + Missense_Mutation SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:52821951C>G ENST00000371586.2 - 18 2117 c.1979G>C c.(1978-1980)cGc>cCc p.R660P CC2D1B_ENST00000438831.1_Missense_Mutation_p.R35P|CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.R654P NM_032449.2 NP_115825.1 Q5T0F9 C2D1B_HUMAN coiled-coil and C2 domain containing 1B 660 breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 27 CTGTTTCTTGCGGTCCTGAGC 0.567000 39 126 0 0 0.008740 0 0 IBTK 25998 broad.mit.edu 37 6 82936933 82936933 + Silent SNP T T G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:82936933T>G ENST00000306270.7 - 5 1179 c.630A>C c.(628-630)ggA>ggC p.G210G IBTK_ENST00000503631.1_Silent_p.G210G|IBTK_ENST00000510291.1_Silent_p.G210G NM_015525.2 NP_056340.2 Q9P2D0 IBTK_HUMAN inhibitor of Bruton agammaglobulinemia tyrosine kinase 210 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 54 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) CATCTCCATGTCCTAATCGCC 0.378000 26 47 0 0 0.012213 0 0 SLC1A2 6506 broad.mit.edu 37 11 35287040 35287040 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:35287040T>C ENST00000606205.1 - 10 1790 c.1687A>G c.(1687-1689)Ata>Gta p.I563V SLC1A2_ENST00000278379.3_Intron|SLC1A2_ENST00000395753.1_Intron|SLC1A2_ENST00000479543.1_Intron|SLC1A2_ENST00000395750.1_Intron P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 0 CSV -> RVL (in Ref. 3; CAA83532). D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) CACTACTATATACAAGTCTCG 0.353000 5 17 0 0 0.000602 0 0 XIRP2 129446 broad.mit.edu 37 2 168100155 168100155 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:168100155G>A ENST00000409195.1 + 9 2342 c.2253G>A c.(2251-2253)atG>atA p.M751I XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M529I|XIRP2_ENST00000295237.9_Missense_Mutation_p.M751I|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 576 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 CGGGCCAAATGCTGGAAATTA 0.368000 4 24 0 0 0.000602 0 0 TRAV13-1 28671 broad.mit.edu 37 14 22337541 22337541 + RNA SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr14:22337541C>G ENST00000390436.2 + 0 355 TTCTGTGCAGCAAGTACACAT 0.488000 17 25 0 0 0.012319 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769651 31769651 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:31769651C>T ENST00000240587.4 - 2 1375 c.1048G>A c.(1048-1050)Gat>Aat p.D350N NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 350 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 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) TGAAGTGCATCGTTGGTGTCT 0.567000 36 117 0 0 0.009718 0 0 NLRP6 171389 broad.mit.edu 37 11 285201 285201 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:285201A>G ENST00000534750.1 + 8 2778 c.2573A>G c.(2572-2574)cAg>cGg p.Q858R NLRP6_ENST00000312165.5_Missense_Mutation_p.Q859R NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 859 cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CAGTCACTACAGGAGCTTCAG 0.622000 7 14 0 0 0.006214 0 0 ZNF548 147694 broad.mit.edu 37 19 57910511 57910511 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:57910511T>C ENST00000366197.5 + 3 1106 c.856T>C c.(856-858)Tgt>Cgt p.C286R ZNF548_ENST00000336128.7_Missense_Mutation_p.C298R|AC003002.6_ENST00000596400.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC004076.7_ENST00000597410.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GTGCAACACATGTGGGAAATT 0.433000 9 20 0 0 0.008291 0 0 PRR12 57479 broad.mit.edu 37 19 50117835 50117835 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:50117835C>A ENST00000418929.2 + 7 4831 c.4819C>A c.(4819-4821)Cag>Aag p.Q1607K NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 786 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CTGGCGAGTCCAGAAGGCCCT 0.592000 10 3 0.0135373 0.0136915 0.013537 1 0 UNC5C 8633 broad.mit.edu 37 4 96222795 96222795 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:96222795C>T ENST00000453304.1 - 3 800 c.452G>A c.(451-453)gGt>gAt p.G151D UNC5C_ENST00000504962.1_Missense_Mutation_p.G151D|UNC5C_ENST00000506749.1_Missense_Mutation_p.G151D NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 151 Ig-like. 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) CTTTGTGGTACCCGCGGAGCT 0.498000 10 58 0 0 0.001855 0 0 ATP8A2 51761 broad.mit.edu 37 13 26129158 26129158 + Missense_Mutation SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:26129158C>A ENST00000381655.2 + 13 1357 c.1215C>A c.(1213-1215)gaC>gaA p.D405E ATP8A2_ENST00000255283.8_Missense_Mutation_p.D365E NM_016529.4 NP_057613.4 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter, class I, type 8A, member 2 365 ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1) 72 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TAGGAAATGACACTCCTGCCA 0.408000 7 22 2.74318e-10 2.92782e-10 0.006214 1 0 RAB3B 5865 broad.mit.edu 37 1 52442691 52442691 + Silent SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:52442691A>C ENST00000371655.3 - 2 311 c.99T>G c.(97-99)gtT>gtG p.V33V NM_002867.3 NP_002858.2 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 33 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 AGGTCTTGCCAACACTGCTGT 0.483000 67 39 0 0 0.014410 0 0 SSNA1 8636 broad.mit.edu 37 9 140083594 140083594 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:140083594G>A ENST00000322310.5 + 2 209 c.129G>A c.(127-129)ctG>ctA p.L43L SSNA1_ENST00000459860.1_3'UTR NM_003731.2 NP_003722.2 O43805 SSNA1_HUMAN Sjogren syndrome nuclear autoantigen 1 43 G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus breast(2)|kidney(1)|large_intestine(1)|lung(2) 6 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087) AGCAGCGGCTGCAGAATGAGG 0.657000 23 30 0 0 0.003330 0 0 RBM5 10181 broad.mit.edu 37 3 50144929 50144929 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr3:50144929C>T ENST00000347869.3 + 12 1143 c.968C>T c.(967-969)tCa>tTa p.S323L RBM5_ENST00000441812.2_3'UTR NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 323 Required for interaction with U2AF2. 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) TTGGTCCTCTCAGATGGTAAC 0.478000 9 21 0 0 0.010729 0 0 HGFAC 3083 broad.mit.edu 37 4 3449359 3449359 + Splice_Site SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:3449359G>A ENST00000382774.3 + 11 1610 c.e11+1 HGFAC_ENST00000511533.1_Splice_Site NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) CACGACCTCGGTGAGCTCCGG 0.652000 242 339 0 0 0.014410 0 0 PTPRN 5798 broad.mit.edu 37 2 220166979 220166979 + Missense_Mutation SNP T T C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:220166979T>C ENST00000295718.2 - 6 1114 c.874A>G c.(874-876)Agg>Ggg p.R292G AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.R292G|PTPRN_ENST00000423636.2_Missense_Mutation_p.R202G NM_002846.3 NP_002837.1 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 292 response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CTTGGCACCCTGGCCCTGCTG 0.632000 37 16 0 0 0.006230 0 0 FANCB 2187 broad.mit.edu 37 X 14863348 14863348 + Silent SNP C C A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chrX:14863348C>A ENST00000398334.1 - 8 1824 c.1557G>T c.(1555-1557)cgG>cgT p.R519R FANCB_ENST00000324138.3_Silent_p.R519R NM_001018113.1 NP_001018123.1 Q8NB91 FANCB_HUMAN Fanconi anemia, complementation group B 519 DNA repair nucleoplasm NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 Hepatocellular(33;0.183) ACTTTAGAAGCCGAAATCTGG 0.388000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 19 6 4.35082e-09 4.57764e-09 0.010504 1 0 CBFB 865 broad.mit.edu 37 16 67116228 67116228 + Missense_Mutation SNP T T A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:67116228T>A ENST00000290858.6 + 5 773 c.512T>A c.(511-513)cTg>cAg p.L171Q CBFB_ENST00000561924.2_Missense_Mutation_p.L71Q|CBFB_ENST00000412916.2_Intron NM_001755.2|NM_022845.2 NP_001746.1|NP_074036.1 Q13951 PEBB_HUMAN core-binding factor, beta subunit 171 transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(3)|large_intestine(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066) GTTTCACAGCTGCTGGCAGTA 0.428000 T MYH11 AML 38 83 0 0 0.014410 0 0 TAF8 129685 broad.mit.edu 37 6 42019188 42019188 + Missense_Mutation SNP G G C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:42019188G>C ENST00000372977.3 + 2 157 c.139G>C c.(139-141)Gag>Cag p.E47Q TAF8_ENST00000456846.2_Missense_Mutation_p.E47Q|TAF8_ENST00000372982.4_Missense_Mutation_p.E47Q|TAF8_ENST00000472818.1_Missense_Mutation_p.E47Q|TAF8_ENST00000372978.3_Missense_Mutation_p.E47Q|TAF8_ENST00000465926.1_5'UTR|TAF8_ENST00000482926.1_3'UTR|TAF8_ENST00000494547.1_Missense_Mutation_p.E47Q|TAF8_ENST00000482432.1_5'UTR NM_138572.2 NP_612639.2 Q7Z7C8 TAF8_HUMAN TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa 47 Histone-fold. cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent perinuclear region of cytoplasm|transcription factor TFIID complex DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 6 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179) CTTGCTGACAGAGGCAGGGTT 0.537000 23 74 0 0 0.014323 0 0 DHX8 1659 broad.mit.edu 37 17 41598153 41598153 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr17:41598153A>G ENST00000262415.3 + 20 3044 c.2972A>G c.(2971-2973)aAa>aGa p.K991R DHX8_ENST00000540306.1_Missense_Mutation_p.K991R NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 991 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) ATGCTATGCAAAATGCTCATC 0.478000 OREG0024435 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 14 0 0 0.010504 0 0 COL24A1 255631 broad.mit.edu 37 1 86590911 86590911 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:86590911G>A ENST00000370571.2 - 3 1474 c.1108C>T c.(1108-1110)Ctc>Ttc p.L370F COL24A1_ENST00000436319.1_Missense_Mutation_p.L370F NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 370 cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) ATGTTTAGGAGAGAGCTAAAT 0.378000 21 19 0 0 0.009535 0 0 CHSY3 337876 broad.mit.edu 37 5 129520908 129520908 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:129520908G>A ENST00000305031.4 + 3 2431 c.2073G>A c.(2071-2073)atG>atA p.M691I NM_175856.4 NP_787052.3 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 691 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) TGATCCCAATGAAGGGAGAGT 0.443000 15 5 0 0 0.002450 0 0 NRBF2 29982 broad.mit.edu 37 10 64911926 64911926 + Silent SNP C C G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:64911926C>G ENST00000277746.6 + 3 313 c.132C>G c.(130-132)gcC>gcG p.A44A NRBF2_ENST00000435510.2_Silent_p.A34A NM_030759.3 NP_110386.2 Q96F24 NRBF2_HUMAN nuclear receptor binding factor 2 44 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent cytoplasm|nucleoplasm protein binding large_intestine(2)|lung(3)|skin(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) TTTCTGAAGCCATGAAGCTGA 0.353000 8 43 0 0 0.008291 0 0 ZC3H15 55854 broad.mit.edu 37 2 187371546 187371546 + Missense_Mutation SNP A A G TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:187371546A>G ENST00000337859.6 + 9 1300 c.1073A>G c.(1072-1074)tAt>tGt p.Y358C NM_018471.2 NP_060941.2 Q8WU90 ZC3HF_HUMAN zinc finger CCCH-type containing 15 358 cytoplasm|nucleolus|plasma membrane nucleic acid binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233) TTCAGCACATATACTTCAGAT 0.363000 11 33 0 0 0.002450 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46917516 46917516 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:46917516G>A ENST00000378797.2 - 14 2443 c.1839C>T c.(1837-1839)gcC>gcT p.A613A KIAA0226L_ENST00000429979.1_3'UTR|KIAA0226L_ENST00000409879.2_3'UTR|KIAA0226L_ENST00000378787.3_Silent_p.A613A|KIAA0226L_ENST00000322896.6_3'UTR|KIAA0226L_ENST00000534925.1_3'UTR|KIAA0226L_ENST00000389908.3_3'UTR|KIAA0226L_ENST00000378784.4_3'UTR|KIAA0226L_ENST00000378781.3_3'UTR Q9H714 CM018_HUMAN KIAA0226-like 316 NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 AGTACTCAGGGGCATCATGTT 0.448000 6 11 0 0 0.001984 0 0 MYO1B 4430 broad.mit.edu 37 2 192194756 192194756 + Splice_Site SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:192194756G>T ENST00000392318.3 + 4 593 c.e4+1 MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) GGAAAAACAGGTAAGGCTCCT 0.483000 19 25 5.03518e-11 5.40005e-11 0.007413 1 0 ADGRG1 9289 broad.mit.edu 37 16 57685350 57685350 + Missense_Mutation SNP A A T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:57685350A>T ENST00000562631.1 + 3 835 c.303A>T c.(301-303)ttA>ttT p.L101F GPR56_ENST00000540164.2_Missense_Mutation_p.L101F|GPR56_ENST00000379696.3_Missense_Mutation_p.L101F|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000567835.1_Missense_Mutation_p.L101F|GPR56_ENST00000388812.4_Missense_Mutation_p.L101F|GPR56_ENST00000568908.1_Missense_Mutation_p.L101F|GPR56_ENST00000538815.1_Missense_Mutation_p.L101F|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000562558.1_Missense_Mutation_p.L101F|GPR56_ENST00000568909.1_Missense_Mutation_p.L101F|GPR56_ENST00000544297.1_5'UTR|GPR56_ENST00000456916.1_Missense_Mutation_p.L101F|GPR56_ENST00000388813.5_Missense_Mutation_p.L101F Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 101 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 CTGGGAGATTACATCTTCTCT 0.602000 19 60 0 0 0.007413 0 0 POLR1C 9533 broad.mit.edu 37 6 43488129 43488129 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:43488129G>A ENST00000372389.3 + 6 707 c.619G>A c.(619-621)Gaa>Aaa p.E207K POLR1C_ENST00000372344.2_Missense_Mutation_p.E207K|POLR1C_ENST00000304004.3_Missense_Mutation_p.E207K NM_203290.2 NP_976035.1 O15160 RPAC1_HUMAN polymerase (RNA) I polypeptide C, 30kDa 207 termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter DNA-directed RNA polymerase I complex|nucleoplasm DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity kidney(1)|large_intestine(2)|lung(1)|prostate(1) 5 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) GCCTGGCCAAGAAATTGACCT 0.562000 22 107 0 0 0.007291 0 0 FMN1 342184 broad.mit.edu 37 15 33360066 33360066 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:33360066G>A ENST00000334528.9 - 1 19 c.20C>T c.(19-21)tCt>tTt p.S7F FMN1_ENST00000558197.1_Missense_Mutation_p.S7F|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_5'UTR NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 0 Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GCCATCCAGAGAATTATCAAC 0.468000 8 26 0 0 0.008291 0 0 SLC39A10 57181 broad.mit.edu 37 2 196581642 196581642 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:196581642G>A ENST00000409086.3 + 7 2253 c.1978G>A c.(1978-1980)Gat>Aat p.D660N SLC39A10_ENST00000541054.1_Missense_Mutation_p.D210N|SLC39A10_ENST00000359634.5_Missense_Mutation_p.D660N NM_001127257.1 NP_001120729.1 Q9ULF5 S39AA_HUMAN solute carrier family 39 (zinc transporter), member 10 660 zinc ion transport integral to membrane metal ion transmembrane transporter activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2) 34 OV - Ovarian serous cystadenocarcinoma(117;0.221) TTCTGGATCCGATCTGAAAGA 0.493000 15 70 0 0 0.004007 0 0 ZNF853 54753 broad.mit.edu 37 7 6662346 6662346 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:6662346G>A ENST00000457543.3 + 3 2282 c.1724G>A c.(1723-1725)gGc>gAc p.G575D NM_017560.1 NP_060030.1 P0CG23 ZN853_HUMAN zinc finger protein 853 575 intracellular nucleic acid binding|zinc ion binding endometrium(1)|kidney(1) 2 GGGGACTGTGGCAAGCGCTTC 0.706000 20 5 0 0 0.002780 0 0 C5AR2 27202 broad.mit.edu 37 19 47844239 47844239 + Silent SNP G G T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:47844239G>T ENST00000595464.1 + 2 401 c.183G>T c.(181-183)ggG>ggT p.G61G C5AR2_ENST00000257267.2_Silent_p.G61G|C5AR2_ENST00000600626.1_Silent_p.G61G NM_001271749.1 NP_001258678.1 complement component 5a receptor 2 GGGTGGCTGGGAAGGTGGCCC 0.687000 76 258 6.07207e-39 7.0026e-39 0.014410 1 0 MKI67 4288 broad.mit.edu 37 10 129903242 129903242 + Nonsense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:129903242G>A ENST00000368654.3 - 13 7237 c.6862C>T c.(6862-6864)Cag>Tag p.Q2288* MKI67_ENST00000368653.3_Nonsense_Mutation_p.Q1928* NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2288 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCCAATTTCTGCACTGGAGTT 0.483000 45 20 0 0 0.014410 0 0 AKAP4 8852 broad.mit.edu 37 X 49957631 49957631 + Missense_Mutation SNP A A C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chrX:49957631A>C ENST00000376056.2 - 5 1856 c.1706T>G c.(1705-1707)aTg>aGg p.M569R AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.M569R|AKAP4_ENST00000376058.2_Missense_Mutation_p.M195R|AKAP4_ENST00000358526.2_Missense_Mutation_p.M578R Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 578 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) ACTCTGAGCCATATAGCCCAT 0.483000 16 8 0 0 0.004007 0 0 CD46 4179 broad.mit.edu 37 1 207930506 207930506 + Missense_Mutation SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:207930506G>A ENST00000358170.2 + 2 401 c.245G>A c.(244-246)cGg>cAg p.R82Q CD46_ENST00000367047.1_Intron|CD46_ENST00000361067.1_Missense_Mutation_p.R82Q|CD46_ENST00000441839.2_Missense_Mutation_p.R82Q|CD46_ENST00000360212.2_Missense_Mutation_p.R82Q|CD46_ENST00000480003.1_Missense_Mutation_p.R82Q|CD46_ENST00000367041.1_Missense_Mutation_p.R82Q|CD46_ENST00000357714.1_Missense_Mutation_p.R82Q|CD46_ENST00000322918.5_Missense_Mutation_p.R82Q|CD46_ENST00000322875.4_Missense_Mutation_p.R82Q|CD46_ENST00000367042.1_Missense_Mutation_p.R82Q|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Missense_Mutation_p.R82Q NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 82 Sushi 1. complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 ATTTGTGATCGGAATCATACA 0.368000 31 29 0 0 0.006999 0 0 MAP3K6 9064 broad.mit.edu 37 1 27683217 27683233 + Frame_Shift_Del DEL GTGAGACCGCCTCCTTC GTGAGACCGCCTCCTTC - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:27683217_27683233delGTGAGACCGCCTCCTTC ENST00000493901.1 - 26 3611_3627 c.3372_3388delGAAGGAGGCGGTCTCAC c.(3370-3390)gagaaggaggcggtctcaccgfs p.EKEAVSP1124fs MAP3K6_ENST00000357582.2_Frame_Shift_Del_p.EKEAVSP1124fs|MAP3K6_ENST00000374040.3_Frame_Shift_Del_p.EKEAVSP1116fs NM_004672.3 NP_004663.3 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 1124 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) TCTGACCTCGGTGAGACCGCCTCCTTCTCCACCTCTG 0.664 7 64 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)gagdel p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 10 170 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 58688029 58688040 + RNA DEL TCTCGCTCCTGA TCTCGCTCCTGA - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:58688029_58688040delTCTCGCTCCTGA ENST00000452840.1 + 0 127 ccgatctcgttctcgctcctgatctcgttctc 0.538 7 3 --- --- --- --- ESPNL 339768 broad.mit.edu 37 2 239039530 239039530 + Frame_Shift_Del DEL G G - rs115923307 by1000genomes TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr2:239039530delG ENST00000343063.3 + 9 2438 c.2175delG c.(2173-2175)gcgfs p.A725fs ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Frame_Shift_Del_p.A357fs|ESPNL_ENST00000409169.1_Frame_Shift_Del_p.A681fs NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 725 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) CATCAGAGGCGGGTGCCGCAG 0.682 2 4 --- --- --- --- PDE5A 8654 broad.mit.edu 37 4 120446823 120446823 + Frame_Shift_Del DEL G G - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr4:120446823delG ENST00000354960.3 - 12 1979 c.1660delC c.(1660-1662)cttfs p.L554fs PDE5A_ENST00000264805.5_Frame_Shift_Del_p.L512fs|PDE5A_ENST00000512739.1_5'UTR|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Frame_Shift_Del_p.L502fs NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific 554 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) GTAATTTTAAGGGTCTGGGCA 0.408 15 47 --- --- --- --- LINC01033 104355136 broad.mit.edu 37 5 53695958 53695958 + RNA DEL A A - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr5:53695958delA ENST00000504609.3 + 0 205 cgtctctactaaaaaatacaa 0.443 2 4 --- --- --- --- MAP3K7 6885 broad.mit.edu 37 6 91296568 91296570 + In_Frame_Del DEL GAG GAG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:91296568_91296570delGAG ENST00000369329.3 - 1 194_196 c.33_35delCTC c.(31-36)tcctcg>tcg p.11_12SS>S MAP3K7_ENST00000369325.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369332.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369327.3_In_Frame_Del_p.11_12SS>S NM_145331.2 NP_663304.1 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 11 Poly-Ser. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 28 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) GGCCGAAGACGAGGAGGAGGAGG 0.655 9 99 --- --- --- --- SMPD2 6610 broad.mit.edu 37 6 109765030 109765042 + Frame_Shift_Del DEL GGCCCAGGATCTG GGCCCAGGATCTG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:109765030_109765042delGGCCCAGGATCTG ENST00000258052.3 + 10 1553_1565 c.1194_1206delGGCCCAGGATCTG c.(1192-1206)gaggcccaggatctgfs p.EAQDL398fs NM_003080.2 NP_003071.2 O60906 NSMA_HUMAN sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) 398 induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process integral to plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2) 8 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566) GGGCAAGGGAGGCCCAGGATCTGGGCCCAGAGC 0.568 9 72 --- --- --- --- GRM1 2911 broad.mit.edu 37 6 146755399 146755401 + In_Frame_Del DEL CAG CAG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:146755399_146755401delCAG ENST00000361719.2 + 9 3522_3524 c.3052_3054delCAG c.(3052-3054)cagdel p.Q1022del GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 1022 Gln/Pro-rich. synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCTCCTCTCCAGCAGCAGCAGC 0.660 11 471 --- --- --- --- EZR 7430 broad.mit.edu 37 6 159188477 159188477 + Frame_Shift_Del DEL G G - rs139613796 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr6:159188477delG ENST00000367075.3 - 13 1580 c.1412delC c.(1411-1413)ccgfs p.P476fs EZR_ENST00000392177.4_Frame_Shift_Del_p.P444fs|EZR_ENST00000337147.7_Frame_Shift_Del_p.P476fs NM_001111077.1 NP_001104547.1 P15311 EZRI_HUMAN ezrin 476 Interaction with SCYL3. actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane actin filament binding|cell adhesion molecule binding EZR/ROS1(4) breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2) 15 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06) TGGTGGGGGCGGGGGTGCTGT 0.597 T ROS1 NSCLC 56 196 --- --- --- --- RHBDD2 57414 broad.mit.edu 37 7 75513098 75513100 + In_Frame_Del DEL GAG GAG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr7:75513098_75513100delGAG ENST00000318622.4 + 4 875_877 c.246_248delGAG c.(244-249)atgagg>atg p.R84del RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000006777.6_In_Frame_Del_p.R225del|RHBDD2_ENST00000428119.1_In_Frame_Del_p.R84del NM_001040457.1 NP_001035547.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 225 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 TCAGCCTGATGAGGAGGATATCC 0.527 68 176 --- --- --- --- FAM86B1 85002 broad.mit.edu 37 8 12041205 12041205 + Frame_Shift_Del DEL C C - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:12041205delC ENST00000448228.2 - 7 850 c.801delG c.(799-801)gggfs p.G267fs FAM86B1_ENST00000321602.8_Frame_Shift_Del_p.D121fs|FAM86B1_ENST00000533852.2_Frame_Shift_Del_p.G301fs NM_001083537.1 NP_001077006.1 Q8N7N1 F86B1_HUMAN family with sequence similarity 86, member B1 267 kidney(1)|prostate(1)|stomach(1) 3 STAD - Stomach adenocarcinoma(15;0.033) COAD - Colon adenocarcinoma(149;0.0965) CCCATCTGATCCCATCCCGGC 0.552 4 2 --- --- --- --- LOC101929268 101929268 broad.mit.edu 37 8 49465490 49465491 + RNA INS - - AG rs146231733 by1000genomes TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr8:49465490_49465491insAG ENST00000522575.1 + 0 356 RP11-567J20.2_ENST00000524011.1_lincRNA AGCTGGAGGACGGGGCAGCCAA 0.644 6 2 --- --- --- --- CDKN2A 1029 broad.mit.edu 37 9 21970950 21970951 + Frame_Shift_Ins INS - - C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:21970950_21970951insC ENST00000304494.5 - 2 677_678 c.407_408insG c.(406-408)ggcfs p.G136fs CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.G136fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.G136fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000579122.1_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.G85fs|CDKN2A_ENST00000530628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 136 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.?(13)|p.R128fs*12(3)|p.R128fs*9(1)|p.0(1)|p.A118fs*10(1)|p.G136fs*5(1)|p.G136D(1)|p.G136G(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) TGCCTCTGGTGCCCCCCGCAGC 0.649 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 7 388 --- --- --- --- SLC46A2 57864 broad.mit.edu 37 9 115652137 115652137 + Frame_Shift_Del DEL T T - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:115652137delT ENST00000374228.4 - 1 1056 c.825delA c.(823-825)aaafs p.K275fs NM_033051.3 NP_149040.3 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 275 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1) 18 GGGGTTTTGCTTTTCCAGGAG 0.537 36 84 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139390945 139390947 + In_Frame_Del DEL GTG GTG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr9:139390945_139390947delGTG ENST00000277541.6 - 34 7319_7321 c.7244_7246delCAC c.(7243-7248)ccacag>cag p.P2415del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2415 Poly-Pro. aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.Q2417*(2)|p.P2416fs*11(1) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGTGCGGCTGTGGTGGTGGTGG 0.650 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 8 157 --- --- --- --- IFIT2 3433 broad.mit.edu 37 10 91065822 91065822 + Frame_Shift_Del DEL A A - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr10:91065822delA ENST00000371826.3 + 2 278 c.109delA c.(109-111)aaafs p.K37fs LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron NM_001547.4 NP_001538.4 P09913 IFIT2_HUMAN interferon-induced protein with tetratricopeptide repeats 2 37 negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway protein binding endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1) 12 Colorectal(252;0.0161) TTTTGAAGACAAAGTATTTTA 0.438 22 13 --- --- --- --- LRFN4 78999 broad.mit.edu 37 11 66625231 66625233 + In_Frame_Del DEL CTG CTG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr11:66625231_66625233delCTG ENST00000309602.4 + 1 259_261 c.16_18delCTG c.(16-18)ctgdel p.L10del LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|PC_ENST00000393955.2_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 10 integral to membrane breast(1)|lung(1)|prostate(1) 3 CCCGCCGCTCCTGCTGCTGCTGC 0.719 7 110 --- --- --- --- IFFO1 25900 broad.mit.edu 37 12 6649704 6649706 + In_Frame_Del DEL GGC GGC - rs144019095 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr12:6649704_6649706delGGC ENST00000436152.2 - 11 1273_1275 c.714_716delGCC c.(712-717)ccgcca>cca p.238_239PP>P IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P|IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P|IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P|IFFO1_ENST00000396840.2_In_Frame_Del_p.541_542PP>P Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 541 intermediate filament central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 AGCCTCGCTTGGCGGCGGCGGCG 0.601 14 188 --- --- --- --- CLDN10 9071 broad.mit.edu 37 13 96205153 96205168 + Frame_Shift_Del DEL TGTGGAAGGCGTGCGT TGTGGAAGGCGTGCGT - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:96205153_96205168delTGTGGAAGGCGTGCGT ENST00000299339.2 + 1 175_190 c.146_161delTGTGGAAGGCGTGCGT c.(145-162)ctgtggaaggcgtgcgttfs p.LWKACV49fs CLDN10_ENST00000376873.3_Intron NM_006984.4 NP_008915.1 P78369 CLD10_HUMAN claudin 10 49 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) TGGGCCAACCTGTGGAAGGCGTGCGTTACCGACTCC 0.644 24 210 --- --- --- --- FAM155A 728215 broad.mit.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr13:108518687_108518689delCTG ENST00000375915.2 - 1 394_396 c.256_258delCAG c.(256-258)cagdel p.Q86del NM_001080396.2 NP_001073865.1 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 86 Poly-Gln. integral to membrane binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 gccgctgcctctgctgctgctgc 0.719 8 83 --- --- --- --- CHRNA3 1136 broad.mit.edu 37 15 78913068 78913070 + In_Frame_Del DEL CAG CAG - rs72025661 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr15:78913068_78913070delCAG ENST00000326828.5 - 1 451_453 c.67_69delCTG c.(67-69)ctgdel p.L23del CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 23 Missing. activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 gcagcagagacagcagcagcagc 0.768 4 5 --- --- --- --- ZNF598 90850 broad.mit.edu 37 16 2049883 2049885 + In_Frame_Del DEL TCC TCC - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:2049883_2049885delTCC ENST00000563630.1 - 9 1742_1744 c.1500_1502delGGA c.(1498-1503)gaggac>gac p.E500del ZNF598_ENST00000431526.1_In_Frame_Del_p.E555del|ZNF598_ENST00000562103.1_In_Frame_Del_p.E500del Q86UK7 ZN598_HUMAN zinc finger protein 598 555 intracellular zinc ion binding p.E555_D556insE(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 CGGGCCGCCGTCCTCCTCCTCCT 0.709 4 6 --- --- --- --- ABCA3 21 broad.mit.edu 37 16 2369649 2369651 + In_Frame_Del DEL AGC AGC - rs145342500 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:2369649_2369651delAGC ENST00000301732.5 - 8 1504_1506 c.804_806delGCT c.(802-807)ctgctc>ctc p.268_269LL>L ABCA3_ENST00000382381.3_In_Frame_Del_p.268_269LL>L NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 268 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) GGTGAAGCTGAGCAGCAGCAGCA 0.611 9 367 --- --- --- --- IL27 246778 broad.mit.edu 37 16 28518125 28518126 + Frame_Shift_Ins INS - - C TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:28518125_28518126insC ENST00000356897.1 - 1 29_30 c.7_8insG c.(7-9)cagfs p.Q3fs NM_145659.3 NP_663634.2 Q8NEV9 IL27A_HUMAN interleukin 27 3 inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation extracellular space cytokine activity|interleukin-27 receptor binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 10 GCCTGCCGTCTGGCCCATGGCG 0.629 40 118 --- --- --- --- SEPT1 1731 broad.mit.edu 37 16 30390387 30390388 + Frame_Shift_Ins INS - - AGCG TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr16:30390387_30390388insAGCG ENST00000321367.3 - 10 1063_1064 c.1018_1019insCGCT c.(1018-1020)tgcfs p.C340fs SEPT1_ENST00000571393.1_Frame_Shift_Ins_p.C293fs|SEPT1_ENST00000605106.1_Frame_Shift_Ins_p.C298fs NM_052838.4 NP_443070.5 Q8WYJ6 SEPT1_HUMAN septin 1 293 cell cycle|cell division microtubule organizing center|septin complex GTP binding|protein binding breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1) 24 Colorectal(24;0.193) GCTCTGTAGGCAGCGGGCCCGG 0.658 65 102 --- --- --- --- AQP4-AS1 147429 broad.mit.edu 37 18 24327265 24327266 + RNA INS - - GGGGC rs71266965 TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr18:24327265_24327266insGGGGC ENST00000582605.1 + 0 305 AQP4-AS1_ENST00000579964.1_RNA TGAGCAACAcgggggcggggcg 0.485 2 4 --- --- --- --- NOTCH3 4854 broad.mit.edu 37 19 15290217 15290223 + Frame_Shift_Del DEL GGTCAAT GGTCAAT - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr19:15290217_15290223delGGTCAAT ENST00000263388.2 - 21 3487_3493 c.3412_3418delATTGACC c.(3412-3420)attgacctcfs p.IDL1138fs NM_000435.2 NP_000426.2 Q9UM47 NOTC3_HUMAN notch 3 1138 EGF-like 29; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CGGGCCACGAGGTCAATGCATGAACCC 0.594 63 111 --- --- --- --- LAMA5 3911 broad.mit.edu 37 20 60895697 60895698 + Frame_Shift_Ins INS - - G rs2297587 by1000genomes TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chr20:60895697_60895698insG ENST00000252999.3 - 50 6742_6743 c.6676_6677insC c.(6676-6678)cgcfs p.R2226fs NM_005560.3 NP_005551.3 O15230 LAMA5_HUMAN laminin, alpha 5 2226 Domain II and I. R -> H (in dbSNP:rs2297587). angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 81 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGTCTCATGGCGGGGGCCCAGG 0.708 10 55 --- --- --- --- TAF9B 51616 broad.mit.edu 37 X 77387128 77387139 + In_Frame_Del DEL ATCATCTTCATG ATCATCTTCATG - TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 418a3dec-96ff-4719-becb-e1a8260cce2f 8aee029e-9da1-4714-933a-7613313dd998 g.chrX:77387128_77387139delATCATCTTCATG ENST00000341864.5 - 7 818_829 c.724_735delCATGAAGATGAT c.(724-735)catgaagatgatdel p.HEDD242del NM_015975.4 NP_057059.2 Q9HBM6 TAF9B_HUMAN TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa 242 negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding p.H242Q(1) central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 14 CATTGTCATCATCATCTTCATGTTTTCTCTTC 0.354 19 11 --- --- --- ---