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 ZNF496 84838 broad.mit.edu 37 1 247464555 247464555 + Nonsense_Mutation SNP C C A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr1:247464555C>A ENST00000294753.4 - 9 1494 c.1030G>T c.(1030-1032)Gag>Tag p.E344* ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Nonsense_Mutation_p.E380* NM_032752.1 NP_116141.1 Q96IT1 ZN496_HUMAN zinc finger protein 496 344 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E344Q(1) NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 36 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) AGGCTGTTCTCTAGAGATCGC 0.612000 6 130 8.12818e-05 8.12818e-05 1 1 0 GTF3C1 2975 broad.mit.edu 37 16 27518206 27518206 + Missense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr16:27518206C>T ENST00000356183.4 - 9 1529 c.1514G>A c.(1513-1515)cGg>cAg p.R505Q GTF3C1_ENST00000561623.1_Missense_Mutation_p.R505Q NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 505 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 GGTCTTGGGCCGGAGGTTTGC 0.622000 3 28 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62196246 62196246 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr20:62196246G>A ENST00000467148.1 - 8 3998 c.3929C>T c.(3928-3930)cCg>cTg p.P1310L HELZ2_ENST00000427522.2_Missense_Mutation_p.P741L NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator CTGGTCCGACGGGGGCACCCT 0.672000 7 72 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2921574 2921574 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr18:2921574G>A ENST00000261596.4 - 18 2637 c.2399C>T c.(2398-2400)cCg>cTg p.P800L NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 800 C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 29 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) CTGCTTAGACGGGGCAAACAG 0.403000 9 94 0 0 1 0 0 NUDT2 318 broad.mit.edu 37 9 34343282 34343282 + Silent SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr9:34343282G>A ENST00000379158.2 + 5 646 c.288G>A c.(286-288)gcG>gcA p.A96A NUDT2_ENST00000346365.4_Silent_p.A96A|NUDT2_ENST00000379155.5_Silent_p.A96A NM_001161.4 NP_001152.1 P50583 AP4A_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 2 96 Nudix hydrolase. induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding lung(3) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) ACTGGCTGGCGGAGGTGAAGG 0.552000 5 154 0 0 1 0 0 TNFAIP8 25816 broad.mit.edu 37 5 118728831 118728831 + Nonsense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr5:118728831C>T ENST00000504771.2 + 2 2129 c.352C>T c.(352-354)Cag>Tag p.Q118* TNFAIP8_ENST00000274456.6_Nonsense_Mutation_p.Q108*|TNFAIP8_ENST00000504642.1_Nonsense_Mutation_p.Q120*|TNFAIP8_ENST00000503646.1_Nonsense_Mutation_p.Q118*|TNFAIP8_ENST00000513374.1_Nonsense_Mutation_p.Q130*|TNFAIP8_ENST00000415806.2_3'UTR NM_014350.2 NP_055165.2 O95379 TFIP8_HUMAN tumor necrosis factor, alpha-induced protein 8 118 anti-apoptosis|apoptosis|negative regulation of anti-apoptosis cytoplasm caspase inhibitor activity|protein binding ovary(1) 1 all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231) Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829) CAGTTTCCATCAGGTGGATTA 0.413000 16 57 0 0 1 0 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 6 58 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccgccaccgccgc 0.706000 4 48 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29608227 29608227 + Missense_Mutation SNP C C A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr13:29608227C>A ENST00000431530.3 + 2 2499 c.2441C>A c.(2440-2442)aCa>aAa p.T814K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 804 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GGACCCATAACAACAGCCACC 0.493000 7 68 5.18039e-06 5.36216e-06 1 1 0 PADI1 29943 broad.mit.edu 37 1 17548859 17548859 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr1:17548859G>A ENST00000375471.4 + 2 259 c.167G>A c.(166-168)cGc>cAc p.R56H NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 56 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) GTCTACAACCGCACACGTGTG 0.557000 6 153 0 0 1 0 0 ZMPSTE24 10269 broad.mit.edu 37 1 40758218 40758218 + Silent SNP A A G TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr1:40758218A>G ENST00000372759.3 + 10 1470 c.1305A>G c.(1303-1305)ttA>ttG p.L435L NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 435 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) ATTCTGCTTTAATCAAACTTA 0.393000 16 121 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399635 179399635 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr2:179399635G>A ENST00000589042.1 - 358 101931 c.101707C>T c.(101707-101709)Cgc>Tgc p.R33903C TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25030C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24963C|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24838C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31335C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32262C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588244.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32262 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) GTGTTAATGCGCTCAAATATG 0.343000 4 72 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85400343 85400343 + Missense_Mutation SNP G G C TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr15:85400343G>C ENST00000258888.5 + 6 3147 c.2980G>C c.(2980-2982)Ggt>Cgt p.G994R NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 994 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AACTGTGCTGGGTCCCCTGTC 0.592000 11 103 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73480479 73480479 + Silent SNP C C A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr8:73480479C>A ENST00000523207.1 + 2 1098 c.510C>A c.(508-510)acC>acA p.T170T NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 170 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) TTGATAATACCTGCTGCCCTG 0.453000 20 207 1.15919e-05 1.17917e-05 1 1 0 PCLO 27445 broad.mit.edu 37 7 82784965 82784965 + Missense_Mutation SNP G G C TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr7:82784965G>C ENST00000423517.2 - 2 1329 c.992C>G c.(991-993)cCc>cGc p.P331R PCLO_ENST00000333891.8_Missense_Mutation_p.P331R NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 314 Gln-rich.|Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CTGAGCTGGGGGCTTTGCAGG 0.567000 4 41 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21145740 21145740 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr16:21145740G>A ENST00000261383.3 - 7 921 c.922C>T c.(922-924)Cgg>Tgg p.R308W DNAH3_ENST00000415178.1_Missense_Mutation_p.R308W NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 308 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity p.R308W(2) NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATAAAGAGCCGTTTTCTCTCC 0.507000 4 120 0 0 1 0 0 RNF123 63891 broad.mit.edu 37 3 49738118 49738118 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr3:49738118G>A ENST00000327697.6 + 15 1397 c.1253G>A c.(1252-1254)cGc>cAc p.R418H RNF123_ENST00000432042.1_Missense_Mutation_p.R272H NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 418 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GAGAAGTCCCGCAAGTTTCTG 0.597000 4 132 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75248427 75248427 + Missense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr14:75248427C>T ENST00000325680.7 + 4 1805 c.1681C>T c.(1681-1683)Ccc>Tcc p.P561S YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Missense_Mutation_p.P561S NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 363 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) ACCTGGCATGCCCCCACCTGT 0.612000 5 275 0 0 1 0 0 ANGPTL3 27329 broad.mit.edu 37 1 63069735 63069735 + Missense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr1:63069735C>T ENST00000371129.3 + 6 1107 c.1027C>T c.(1027-1029)Cat>Tat p.H343Y DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron|ANGPTL3_ENST00000493994.1_3'UTR|DOCK7_ENST00000251157.5_Intron NM_014495.2 NP_055310.1 Q9Y5C1 ANGL3_HUMAN angiopoietin-like 3 343 Fibrinogen C-terminal. acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis extracellular space cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1) 13 AGACAACAAACATTATATTGA 0.368000 10 239 0 0 1 0 0 CROCCP2 84809 broad.mit.edu 37 1 16959602 16959602 + RNA SNP C C T rs1807293 by1000genomes TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr1:16959602C>T ENST00000412962.1 - 0 74 p.A88A(2) TCTGCAGTGACGCCTGCCTCA 0.602000 5 37 0 0 1 0 0 PPFIA4 8497 broad.mit.edu 37 1 203029424 203029424 + Missense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr1:203029424C>T ENST00000367240.2 + 21 3127 c.2600C>T c.(2599-2601)tCg>tTg p.S867L PPFIA4_ENST00000447715.2_Missense_Mutation_p.S866L|PPFIA4_ENST00000414050.2_Missense_Mutation_p.S595L|PPFIA4_ENST00000295706.4_Missense_Mutation_p.S382L|PPFIA4_ENST00000599966.1_Missense_Mutation_p.S382L|PPFIA4_ENST00000272198.6_Missense_Mutation_p.S382L O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 382 cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 TCCGCTCTGTCGGACACAGAG 0.632000 4 105 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79755514 79755514 + Missense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr15:79755514C>T ENST00000305428.3 + 3 2479 c.2404C>T c.(2404-2406)Ctc>Ttc p.L802F NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 802 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 CCCTGCCTCCCTCAAGGCCCA 0.607000 5 102 0 0 1 0 0 HKR1 284459 broad.mit.edu 37 19 37854409 37854409 + Missense_Mutation SNP A A T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr19:37854409A>T ENST00000591471.1 + 9 2534 c.893A>T c.(892-894)cAc>cTc p.H298L HKR1_ENST00000541583.2_Missense_Mutation_p.H510L|HKR1_ENST00000544914.1_Missense_Mutation_p.H298L|HKR1_ENST00000392153.3_Missense_Mutation_p.H552L|HKR1_ENST00000324411.4_Missense_Mutation_p.H571L|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000589392.1_Missense_Mutation_p.H553L P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 571 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGTTTAGGCACAAGAGGGCA 0.522000 12 53 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152284263 152284263 + Silent SNP G G A rs146128865 byFrequency TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr1:152284263G>A ENST00000368799.1 - 3 3134 c.3099C>T c.(3097-3099)caC>caT p.H1033H FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1033 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCGGGATCCGTGTCTTTCTC 0.567000 Ichthyosis 7 779 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50875314 50875314 + Missense_Mutation SNP T T C TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr15:50875314T>C ENST00000313478.7 - 29 4810 c.4529A>G c.(4528-4530)gAa>gGa p.E1510G TRPM7_ENST00000560955.1_Missense_Mutation_p.E1509G NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 1510 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GGAATCTACTTCATGAGTGTC 0.274000 4 59 0 0 1 0 0 PRR5 55615 broad.mit.edu 37 22 45133065 45133065 + Missense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr22:45133065C>T ENST00000403581.1 + 10 1783 c.1174C>T c.(1174-1176)Cgg>Tgg p.R392W PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000389773.5_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.R369W|PRR5_ENST00000477331.1_3'UTR NM_001198721.1 NP_001185650.1 proline rich 5 (renal) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) TGACTTTGGCCGGGGCCGGGG 0.632000 10 122 0 0 1 0 0 INTS9 55756 broad.mit.edu 37 8 28625720 28625720 + Silent SNP G G A rs149143087 TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr8:28625720G>A ENST00000416984.2 - 16 2216 c.1857C>T c.(1855-1857)gaC>gaT p.D619D INTS9_ENST00000397363.4_Silent_p.D534D|INTS9_ENST00000521022.1_Silent_p.D640D|INTS9_ENST00000521777.1_Silent_p.D616D NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 640 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) TGAGCATCTCGTCATTGTCGC 0.532000 5 344 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 6 31 0 0 1 0 0 KLHL6 89857 broad.mit.edu 37 3 183210454 183210454 + Silent SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr3:183210454G>A ENST00000341319.3 - 6 1427 c.1392C>T c.(1390-1392)acC>acT p.T464T NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch-like family member 6 464 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) TCTTATGGCTGGTGGCTGCAA 0.542000 9 81 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198949735 198949735 + Silent SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr2:198949735G>A ENST00000428675.1 + 2 1892 c.1494G>A c.(1492-1494)ccG>ccA p.P498P PLCL1_ENST00000437704.2_Silent_p.P400P NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 498 PI-PLC X-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GCTCCTTGCCGCAGCAGAAGG 0.418000 4 52 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54957319 54957319 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chrX:54957319G>A ENST00000173898.7 + 12 4274 c.4162G>A c.(4162-4164)Ggt>Agt p.G1388S TRO_ENST00000375041.2_Missense_Mutation_p.G991S|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.G919S NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 1388 62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 TGGCTTCAGCGGTGGACCGAG 0.612000 4 194 0 0 1 0 0 APCDD1 147495 broad.mit.edu 37 18 10471888 10471888 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr18:10471888G>A ENST00000355285.4 + 3 958 c.604G>A c.(604-606)Gtg>Atg p.V202M APCDD1_ENST00000578882.1_Intron|APCDD1_ENST00000584596.1_3'UTR NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 202 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) CACCAAGGCCGTGAACTTTGC 0.607000 5 276 0 0 1 0 0 SSH1 54434 broad.mit.edu 37 12 109201543 109201543 + Silent SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr12:109201543G>A ENST00000326495.5 - 8 690 c.597C>T c.(595-597)ccC>ccT p.P199P SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Silent_p.P199P|SSH1_ENST00000326470.5_Silent_p.P210P NM_018984.3 NP_061857.3 Q8WYL5 SSH1_HUMAN slingshot protein phosphatase 1 199 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTACACCCCCGGGGAAGTAGT 0.612000 4 83 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46267869 46267869 + Missense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr20:46267869C>T ENST00000372004.3 + 14 2846 c.2630C>T c.(2629-2631)cCc>cTc p.P877L NCOA3_ENST00000341724.6_Intron|NCOA3_ENST00000371997.3_Missense_Mutation_p.P887L|NCOA3_ENST00000371998.3_Missense_Mutation_p.P877L NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 877 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 AGTGCTTTCCCCATGTTACCA 0.428000 12 112 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157068581 157068581 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr1:157068581G>A ENST00000454449.2 - 3 687 c.403C>T c.(403-405)Cgg>Tgg p.R135W NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 135 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) GGCGGCGCCCGCACTTCCCAC 0.577000 4 143 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54313442 54313442 + Missense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr19:54313442C>T ENST00000324134.6 - 3 1639 c.1471G>A c.(1471-1473)Gtc>Atc p.V491I NLRP12_ENST00000535162.1_Missense_Mutation_p.V491I|NLRP12_ENST00000354278.3_Missense_Mutation_p.V491I|NLRP12_ENST00000345770.5_Missense_Mutation_p.V491I|NLRP12_ENST00000391772.1_Missense_Mutation_p.V491I|NLRP12_ENST00000391773.1_Missense_Mutation_p.V491I|NLRP12_ENST00000391775.3_Missense_Mutation_p.V491I|NLRP12_ENST00000351894.4_Missense_Mutation_p.V491I NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 491 NACHT. negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.V491I(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) AAGGCAGAGACGTCTTCCCCG 0.512000 4 161 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A A G rs112443847 TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr16:72821618A>G ENST00000268489.5 - 10 11229 c.10557T>C c.(10555-10557)ggT>ggC p.G3519G ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.G3519G(3) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.716000 4 44 0 0 1 0 0 PAGE1 8712 broad.mit.edu 37 X 49454129 49454129 + Missense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chrX:49454129C>T ENST00000376150.3 - 5 442 c.310G>A c.(310-312)Gat>Aat p.D104N NM_003785.3 NP_003776.2 O75459 GAGB1_HUMAN P antigen family, member 1 (prostate associated) 104 cellular defense response endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1) 7 Ovarian(276;0.236) TCCTGGCTATCCGCTTCAGGC 0.363000 11 125 0 0 1 0 0 SLAMF6 114836 broad.mit.edu 37 1 160466091 160466091 + Missense_Mutation SNP C C G TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr1:160466091C>G ENST00000368059.3 - 2 211 c.142G>C c.(142-144)Gag>Cag p.E48Q SLAMF6_ENST00000368057.3_Missense_Mutation_p.E48Q|SLAMF6_ENST00000368055.1_Intron NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 48 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) TTGACCTTCTCTCCTGCAGGA 0.453000 13 261 0 0 1 0 0 IGKV1-9 28941 broad.mit.edu 37 2 89309575 89309575 + RNA SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr2:89309575G>A ENST00000493819.1 - 0 312 ATCCACTGCCGCTGAACCTTG 0.478000 5 310 0 0 1 0 0 PRCP 5547 broad.mit.edu 37 11 82536060 82536060 + Missense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr11:82536060C>T ENST00000313010.3 - 9 1573 c.1379G>A c.(1378-1380)cGc>cAc p.R460H PRCP_ENST00000535099.1_Missense_Mutation_p.R355H|PRCP_ENST00000393399.2_Missense_Mutation_p.R481H|PRCP_ENST00000525772.1_5'UTR NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 460 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 ATTCTTGGTGCGGAGATCTAA 0.502000 6 51 0 0 1 0 0 TLR9 54106 broad.mit.edu 37 3 52257252 52257252 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr3:52257252G>A ENST00000494383.1 - 5 1539 c.1540C>T c.(1540-1542)Cgg>Tgg p.R514W TLR9_ENST00000360658.2_Silent_p.F360F|TLR9_ENST00000597542.1_Silent_p.F384F Q9NR96 TLR9_HUMAN toll-like receptor 9 0 defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CCAGGCTCCCGAAGGAAGGGG 0.612000 4 113 0 0 1 0 0 EGFL7 51162 broad.mit.edu 37 9 139563123 139563123 + Silent SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr9:139563123C>T ENST00000371699.1 + 4 1106 c.195C>T c.(193-195)taC>taT p.Y65Y EGFL7_ENST00000371698.3_Silent_p.Y65Y|EGFL7_ENST00000492002.1_3'UTR|EGFL7_ENST00000308874.7_Silent_p.Y65Y|EGFL7_ENST00000406555.3_Silent_p.Y65Y Q9UHF1 EGFL7_HUMAN EGF-like-domain, multiple 7 65 EMI. angiogenesis|vasculogenesis calcium ion binding kidney(2)|ovary(1)|prostate(2)|urinary_tract(1) 6 all_cancers(76;0.109) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123) GCAGCACCTACCGGTGAGTGC 0.687000 4 147 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 27 0 0 1 0 0 KRTAP4-11 653240 broad.mit.edu 37 17 39274087 39274087 + Missense_Mutation SNP G G C rs141357429 by1000genomes TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr17:39274087G>C ENST00000391413.2 - 1 519 c.481C>G c.(481-483)Ctg>Gtg p.L161V NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 161 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament p.L161V(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) ACTGGACGCAGGcagcagcag 0.657000 3 25 0 0 1 0 0 TYR 7299 broad.mit.edu 37 11 88911771 88911771 + Missense_Mutation SNP G G A rs61754365 TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr11:88911771G>A ENST00000263321.5 + 1 1152 c.650G>A c.(649-651)cGg>cAg p.R217Q TYR_ENST00000526139.1_3'UTR NM_000372.4 NP_000363.1 P14679 TYRO_HUMAN tyrosinase 217 Missing (in OCA1A).|R -> G (in OCA1A).|R -> Q (in OCA1A).|R -> S (in OCA1A).|R -> W (in OCA1A). eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033) Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157) TTCTTGTTGCGGTGGGAACAA 0.463000 4 172 0 0 1 0 0 MGAT5B 146664 broad.mit.edu 37 17 74928764 74928764 + Silent SNP C C T rs141461687 byFrequency TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr17:74928764C>T ENST00000569840.2 + 11 1903 c.1329C>T c.(1327-1329)tcC>tcT p.S443S MGAT5B_ENST00000428789.2_Silent_p.S454S|MGAT5B_ENST00000301618.4_Silent_p.S443S NM_001199172.1 NP_001186101.1 Q3V5L5 MGT5B_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B 443 Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCTTCGTGTCCGAGGAGCTCA 0.622000 19 121 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232127058 232127058 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr2:232127058G>A ENST00000349938.4 + 12 1260 c.1066G>A c.(1066-1068)Gtt>Att p.V356I ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.3 NP_001258395.1|NP_079415.3 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 356 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GAGGGAGACCGTTCTGCAAGC 0.493000 4 120 0 0 1 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671339 112671339 + Silent SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr6:112671339C>T ENST00000441065.2 + 3 741 c.429C>T c.(427-429)tcC>tcT p.S143S NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 143 B30.2/SPRY. zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) GCTTCTCCTCCGGCCAACATT 0.532000 7 76 0 0 1 0 0 ZNF227 7770 broad.mit.edu 37 19 44739946 44739946 + Missense_Mutation SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr19:44739946C>T ENST00000313040.7 + 6 1568 c.1363C>T c.(1363-1365)Cgg>Tgg p.R455W ZNF227_ENST00000589005.1_Missense_Mutation_p.R404W|ZNF227_ENST00000391961.2_Missense_Mutation_p.R404W NM_182490.1 NP_872296.1 Q86WZ6 ZN227_HUMAN zinc finger protein 227 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1) 24 Prostate(69;0.0435) AATATGCCATCGGAGAGTCCA 0.468000 4 154 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9561503 9561503 + Silent SNP C C T TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr20:9561503C>T ENST00000378429.3 - 5 825 c.279G>A c.(277-279)tcG>tcA p.S93S PAK7_ENST00000378423.1_Silent_p.S93S|PAK7_ENST00000353224.5_Silent_p.S93S NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 93 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) AGCGAGTCACCGAGATGTTGT 0.512000 5 271 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23939316 23939316 + Missense_Mutation SNP G G A TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr13:23939316G>A ENST00000382298.3 - 6 1034 c.446C>T c.(445-447)gCg>gTg p.A149V SACS_ENST00000402364.1_5'UTR|SACS_ENST00000382292.3_Missense_Mutation_p.A149V NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 149 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CTGATATGGCGCCATATCTTT 0.328000 4 49 0 0 1 0 0 RP11-439I14.2 0 broad.mit.edu 37 16 64770704 64770705 + RNA INS - - CCAGTGATGGTCACCT rs140029302 by1000genomes TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr16:64770704_64770705insCCAGTGATGGTCACCT ENST00000564293.1 + 0 453_454 TGTCACCACTGCCACCTTGTTC 0.371 4 8 --- --- --- --- SERHL 94009 broad.mit.edu 37 22 42898665 42898666 + RNA INS - - C TCGA-BA-A6DB-01A-11D-A30E-08 TCGA-BA-A6DB-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 041344f2-1b9f-4679-aa68-cc4b7c4b1c16 5ffe305e-72e6-46e1-be69-b42dca5ab179 g.chr22:42898665_42898666insC ENST00000359906.2 + 0 409 NR_027786.1 serine hydrolase-like endometrium(1)|large_intestine(1) 2 CCCATATGGTGCCCCCCCCCCA 0.589 2 4 --- --- --- ---