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 ZSCAN25 221785 broad.mit.edu 37 7 99226951 99226951 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:99226951G>C ENST00000394152.2 + 8 1270 c.943G>C c.(943-945)Ggt>Cgt p.G315R ZSCAN25_ENST00000334715.3_Missense_Mutation_p.G315R|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.G243R|ZSCAN25_ENST00000466948.1_Intron NM_145115.2 NP_660090.2 zinc finger and SCAN domain containing 25 GCAGGAGCCTGGTGGCCCTGC 0.637000 9 56 0 0 1 0 0 SPECC1L 23384 broad.mit.edu 37 22 24717999 24717999 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:24717999G>A ENST00000314328.9 + 5 1336 c.1051G>A c.(1051-1053)Gag>Aag p.E351K SPECC1L_ENST00000437398.1_Missense_Mutation_p.E351K|SPECC1L-ADORA2A_ENST00000358654.2_Missense_Mutation_p.E351K|SPECC1L_ENST00000541492.1_Missense_Mutation_p.E351K|SPECC1L_ENST00000416735.1_Intron NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 351 cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 TGAGTGCAGTGAGGTCTACCA 0.547000 13 66 0 0 1 0 0 VANGL2 57216 broad.mit.edu 37 1 160395046 160395046 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:160395046C>T ENST00000368061.2 + 8 1918 c.1444C>T c.(1444-1446)Cgc>Tgc p.R482C NM_020335.2 NP_065068.1 Q9ULK5 VANG2_HUMAN VANGL planar cell polarity protein 2 482 apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1) 37 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTCTTAAAACGCCAGGACTT 0.532000 4 59 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57114321 57114321 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:57114321C>G ENST00000454682.1 - 3 1274 c.993G>C c.(991-993)ttG>ttC p.L331F NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.L331F NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TAGGGTCTGACAAAGCACTAG 0.453000 T BCL6 NHL 3 37 0 0 1 0 0 RPL26L1 51121 broad.mit.edu 37 5 172396492 172396492 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:172396492G>C ENST00000521476.1 + 4 510 c.386G>C c.(385-387)gGa>gCa p.G129A RPL26L1_ENST00000519239.1_Missense_Mutation_p.G129A|RPL26L1_ENST00000265100.2_Missense_Mutation_p.G129A|RPL26L1_ENST00000519974.1_Missense_Mutation_p.G129A Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 129 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1) 7 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CGACAAGTTGGAAAAGAGAAA 0.408000 5 95 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4080558 4080558 + Nonsense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:4080558G>A ENST00000341657.4 - 19 2673 c.2638C>T c.(2638-2640)Cag>Tag p.Q880* ANKFY1_ENST00000574367.1_Nonsense_Mutation_p.Q881*|ANKFY1_ENST00000570535.1_Nonsense_Mutation_p.Q922*|CYB5D2_ENST00000573984.1_Intron NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 880 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 TCAGAGTTCTGAACTGCCACA 0.473000 28 53 0 0 1 0 0 C12orf54 121273 broad.mit.edu 37 12 48879982 48879982 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:48879982G>C ENST00000314014.2 + 3 218 c.87G>C c.(85-87)atG>atC p.M29I RP11-722P11.4_ENST00000551847.1_RNA|C12orf54_ENST00000548364.1_Missense_Mutation_p.M29I NM_152319.3 NP_689532.1 Q6X4T0 CL054_HUMAN chromosome 12 open reading frame 54 29 endometrium(1)|large_intestine(4) 5 AAGAGACAATGAGACCACAGG 0.458000 12 63 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157514143 157514143 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:157514143C>G ENST00000361835.3 - 5 910 c.753G>C c.(751-753)tgG>tgC p.W251C FCRL5_ENST00000368190.3_Missense_Mutation_p.W251C|FCRL5_ENST00000356953.4_Missense_Mutation_p.W251C|FCRL5_ENST00000368191.3_Missense_Mutation_p.W166C|FCRL5_ENST00000368189.3_Missense_Mutation_p.W251C NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 251 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AATCTTTACTCCACATGGCAG 0.512000 13 171 0 0 1 0 0 CBL 867 broad.mit.edu 37 11 119142469 119142469 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:119142469C>T ENST00000264033.4 + 3 844 c.468C>T c.(466-468)ctC>ctT p.L156L NM_005188.3 NP_005179.2 P22681 CBL_HUMAN Cbl proto-oncogene, E3 ubiquitin protein ligase 156 4H.|Cbl-PTB. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 251 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) AACTGTCCCTCATCTTCAGCC 0.368000 """T, Mis S, O""" MLL """AML, JMML, MDS""" Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies 33 49 0 0 1 0 0 TINAGL1 64129 broad.mit.edu 37 1 32051353 32051353 + Splice_Site SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:32051353G>A ENST00000271064.7 + 10 1169 c.e10-1 TINAGL1_ENST00000457433.2_Splice_Site|TINAGL1_ENST00000481165.1_3'UTR NM_001204415.1|NM_022164.2 NP_001191344.1|NP_071447.1 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) TCTGCCCACAGCCCTCATGGA 0.597000 5 18 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113445538 113445538 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:113445538C>G ENST00000392583.2 + 9 1892 c.1685C>G c.(1684-1686)tCt>tGt p.S562C RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000342315.4_Missense_Mutation_p.S562C NM_002535.2 NP_002526.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 562 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 CCAAAGGGGTCTTTGCCCCCA 0.547000 19 108 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146755219 146755219 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:146755219G>C ENST00000361719.2 + 9 3342 c.2872G>C c.(2872-2874)Gag>Cag p.E958Q GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.E958Q|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR NM_001278064.1 NP_001264993.1 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 958 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) TTACAACGTAGAGGAGGAGGA 0.582000 22 70 0 0 1 0 0 TP53BP1 7158 broad.mit.edu 37 15 43738684 43738684 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:43738684C>T ENST00000263801.3 - 14 3178 c.2926G>A c.(2926-2928)Ggg>Agg p.G976R TP53BP1_ENST00000450115.2_Missense_Mutation_p.G981R|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G981R|TP53BP1_ENST00000382044.4_Missense_Mutation_p.G981R NM_005657.2 NP_005648.1 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 976 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GGGGCAGCCCCAGAATCCCCT 0.473000 Other conserved DNA damage response genes 29 76 0 0 1 0 0 NOM1 64434 broad.mit.edu 37 7 156743110 156743110 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:156743110A>G ENST00000275820.3 + 1 694 c.679A>G c.(679-681)Aaa>Gaa p.K227E NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 227 Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GGAGTCTGGGAAAAATAGCGG 0.552000 13 74 0 0 1 0 0 NFIA 4774 broad.mit.edu 37 1 61869892 61869892 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:61869892G>C ENST00000403491.3 + 8 1676 c.1192G>C c.(1192-1194)Gaa>Caa p.E398Q NFIA_ENST00000371185.2_Missense_Mutation_p.E376Q|NFIA_ENST00000485903.2_Missense_Mutation_p.E355Q|NFIA_ENST00000371184.2_Missense_Mutation_p.E269Q|NFIA_ENST00000407417.3_Missense_Mutation_p.E390Q|NFIA_ENST00000371191.1_Missense_Mutation_p.E421Q|NFIA_ENST00000371189.4_Missense_Mutation_p.E443Q|NFIA_ENST00000357977.5_Missense_Mutation_p.E46Q|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371187.3_Missense_Mutation_p.E398Q NM_001134673.3|NM_005595.4 NP_001128145.1|NP_005586.1 Q12857 NFIA_HUMAN nuclear factor I/A 398 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NFIA/EHF(2) endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1) 34 GACGCTGAAAGAATTTGTCCA 0.493000 5 48 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171073096 171073096 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:171073096G>A ENST00000367755.4 + 3 414 c.303G>A c.(301-303)ctG>ctA p.L101L FMO3_ENST00000538429.1_Intron|FMO3_ENST00000542847.1_Silent_p.L81L|FMO3_ENST00000392085.2_Silent_p.L101L NM_001002294.2 NP_001002294.1 P31513 FMO3_HUMAN flavin containing monooxygenase 3 101 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGAACCTCCTGAAGTACATAC 0.378000 12 55 0 0 1 0 0 DTX2 113878 broad.mit.edu 37 7 76126675 76126675 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:76126675C>T ENST00000324432.5 + 7 1541 c.1031C>T c.(1030-1032)tCa>tTa p.S344L DTX2_ENST00000307569.8_Intron|DTX2_ENST00000446600.1_Missense_Mutation_p.S253L|DTX2_ENST00000413936.2_Missense_Mutation_p.S344L|DTX2_ENST00000446820.2_Intron|DTX2_ENST00000430490.2_Missense_Mutation_p.S344L NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 344 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 GTTCTGATGTCAGCCATTGGA 0.577000 22 138 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54048534 54048534 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:54048534G>C ENST00000373980.4 + 15 2175 c.1758G>C c.(1756-1758)ttG>ttC p.L586F PRKG1_ENST00000373985.1_Missense_Mutation_p.L559F|PRKG1_ENST00000401604.2_Missense_Mutation_p.L571F|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.L289F|PRKG1-AS1_ENST00000426785.2_RNA NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 571 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) ACATCATATTGAGGGGGATTG 0.343000 5 64 0 0 1 0 0 KIAA0355 9710 broad.mit.edu 37 19 34818975 34818975 + Silent SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:34818975C>G ENST00000299505.6 + 6 1896 c.1023C>G c.(1021-1023)acC>acG p.T341T NM_014686.3 NP_055501.2 O15063 K0355_HUMAN KIAA0355 341 breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 41 Esophageal squamous(110;0.162) AGCTCCCCACCGTCCCTGTGC 0.607000 18 91 0 0 1 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28304481 28304481 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr21:28304481C>T ENST00000284987.5 - 6 2012 c.1891G>A c.(1891-1893)Gaa>Aaa p.E631K AP001601.2_ENST00000426771.1_RNA NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 631 Cys-rich. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 TCACACTGTTCATGACGAAAT 0.363000 7 37 0 0 1 0 0 TKTL1 8277 broad.mit.edu 37 X 153539540 153539540 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:153539540C>T ENST00000369915.3 + 5 810 c.621C>T c.(619-621)caC>caT p.H207H TKTL1_ENST00000369912.2_Silent_p.H151H|TKTL1_ENST00000217905.7_Intron NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 207 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGTGAAGCACAAGCCCACTG 0.587000 25 82 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209974736 209974736 + Missense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:209974736A>T ENST00000367021.3 - 3 195 c.23T>A c.(22-24)gTc>gAc p.V8D IRF6_ENST00000542854.1_Intron NM_006147.3 NP_006138.1 O14896 IRF6_HUMAN interferon regulatory factor 6 8 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CTTTAGCCGGACTCTGCGGGG 0.597000 HNSCC(57;0.16) 16 56 0 0 1 0 0 SH2D3C 10044 broad.mit.edu 37 9 130507349 130507349 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:130507349G>T ENST00000314830.8 - 7 1407 c.1294C>A c.(1294-1296)Cct>Act p.P432T SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000429553.1_Missense_Mutation_p.P78T|SH2D3C_ENST00000420366.1_Missense_Mutation_p.P274T|SH2D3C_ENST00000373277.4_Missense_Mutation_p.P275T|SH2D3C_ENST00000373276.3_Missense_Mutation_p.P364T|SH2D3C_ENST00000373274.3_Missense_Mutation_p.P272T NM_170600.2 NP_733745.1 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C 432 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GTGGCAGAAGGGGCTGCAGGG 0.627000 15 27 3.27435e-08 3.71405e-08 1 1 0 FAH 2184 broad.mit.edu 37 15 80467381 80467381 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:80467381G>T ENST00000539156.1 + 9 2889 c.651G>T c.(649-651)ctG>ctT p.L217L FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Silent_p.L287L|FAH_ENST00000407106.1_Silent_p.L287L|FAH_ENST00000561421.1_Silent_p.L287L P16930 FAAA_HUMAN fumarylacetoacetate hydrolase (fumarylacetoacetase) 287 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGCCGTATCTGTGCCATGACG 0.587000 Tyrosinemia, type 1 8 47 1.12685e-05 1.22564e-05 1 1 0 PIGR 5284 broad.mit.edu 37 1 207110743 207110743 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:207110743C>G ENST00000356495.4 - 4 925 c.742G>C c.(742-744)Gac>Cac p.D248H NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 248 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCCCTCAGGTCTTCATAAACC 0.547000 12 68 0 0 1 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701308 56701308 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:56701308C>T ENST00000586855.2 - 5 1689 c.1376G>A c.(1375-1377)cGc>cAc p.R459H ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R459H A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 459 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 GGAGTGGGTGCGCTGGTGAAC 0.537000 25 24 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4735736 4735736 + Nonsense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:4735736G>A ENST00000545990.2 - 5 2856 c.2332C>T c.(2332-2334)Caa>Taa p.Q778* AKAP3_ENST00000228850.1_Nonsense_Mutation_p.Q778*|RP11-500M8.7_ENST00000536588.1_Intron NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 778 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 GCTACCCATTGAAGGACGGCT 0.493000 5 71 0 0 1 0 0 OCLN 100506658 broad.mit.edu 37 5 68805240 68805240 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:68805240G>A ENST00000355237.2 + 3 759 c.323G>A c.(322-324)gGa>gAa p.G108E OCLN_ENST00000396442.2_Missense_Mutation_p.G108E|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.G108E NM_002538.3 NP_002529.1 Q16625 OCLN_HUMAN occludin 108 Gly/Tyr-rich.|MARVEL. cellular component disassembly involved in apoptosis|protein complex assembly integral to membrane|tight junction protein binding|structural molecule activity endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1) 6 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CCTTATGGAGGAAGTGGCTTT 0.522000 18 96 0 0 1 0 0 MIR548M 100313772 broad.mit.edu 37 X 94318152 94318152 + RNA SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:94318152G>T ENST00000408260.1 - 0 73 NR_031667.1 ATAttaggttggtgcaaaggt 0.328000 3 20 0.00909568 0.00935488 1 1 0 THBS3 7059 broad.mit.edu 37 1 155170384 155170384 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:155170384G>T ENST00000368378.3 - 14 1586 c.1566C>A c.(1564-1566)ttC>ttA p.F522L THBS3_ENST00000541990.1_Missense_Mutation_p.F51L|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.F402L|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000453136.1_RNA NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 522 cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTTTGTTGGGGAACAGCCGGC 0.517000 10 76 1.58986e-06 1.75815e-06 1 1 0 ANKEF1 63926 broad.mit.edu 37 20 10030184 10030184 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:10030184C>G ENST00000378380.3 + 6 1296 c.967C>G c.(967-969)Cca>Gca p.P323A SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000378392.1_Missense_Mutation_p.P323A|ANKEF1_ENST00000488991.1_3'UTR NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 AAATCCAAATCCACTGTGGGC 0.517000 7 80 0 0 1 0 0 CNTN2 6900 broad.mit.edu 37 1 205027351 205027351 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:205027351C>T ENST00000331830.4 + 4 542 c.258C>T c.(256-258)tcC>tcT p.S86S NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 86 Ig-like C2-type 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGCCAGGTTCCCGTCACCAGC 0.632000 4 25 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93709011 93709011 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:93709011C>A ENST00000334746.5 - 11 3314 c.3007G>T c.(3007-3009)Gaa>Taa p.E1003* BTBD7_ENST00000554565.1_Nonsense_Mutation_p.E652*|BTBD7_ENST00000393170.2_Nonsense_Mutation_p.E577* NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 1003 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CTAGCTTCTTCCTGTTTTTTA 0.493000 59 87 2.5401e-28 3.05581e-28 1 1 0 UNC13B 10497 broad.mit.edu 37 9 35396570 35396570 + Silent SNP C C T rs150684985 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:35396570C>T ENST00000378495.3 + 26 3381 c.3159C>T c.(3157-3159)gtC>gtT p.V1053V UNC13B_ENST00000396787.1_Silent_p.V1065V|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Silent_p.V1053V NM_006377.3 NP_006368.3 O14795 UN13B_HUMAN unc-13 homolog B (C. elegans) 1053 MHD1. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity p.V1053V(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ATCTGCCTGTCCTCCAGGGGC 0.547000 23 51 0 0 1 0 0 SLC25A24 29957 broad.mit.edu 37 1 108679440 108679440 + Silent SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:108679440T>C ENST00000565488.1 - 10 1488 c.1269A>G c.(1267-1269)ccA>ccG p.P423P SLC25A24_ENST00000370041.4_Silent_p.P404P NM_013386.4 NP_037518.3 Q6NUK1 SCMC1_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 423 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) TATTCAGCTGTGGGGAACCTT 0.373000 9 36 0 0 1 0 0 P2RX3 5024 broad.mit.edu 37 11 57118338 57118338 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:57118338G>A ENST00000263314.2 + 8 842 c.808G>A c.(808-810)Gag>Aag p.E270K NM_002559.3 NP_002550.2 P56373 P2RX3_HUMAN purinergic receptor P2X, ligand-gated ion channel, 3 270 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1) 26 CAGCGTTTCTGAGAAAAGCAG 0.552000 11 36 0 0 1 0 0 ABHD1 84696 broad.mit.edu 37 2 27351315 27351315 + Silent SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:27351315C>A ENST00000316470.4 + 2 235 c.121C>A c.(121-123)Cgg>Agg p.R41R NM_032604.3 NP_115993 Q96SE0 ABHD1_HUMAN abhydrolase domain containing 1 41 integral to membrane carboxylesterase activity endometrium(1)|kidney(1)|lung(3) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAGAGGCCTCGGCTGGTGGC 0.602000 14 50 3.27435e-08 3.71405e-08 1 1 0 ANKFY1 51479 broad.mit.edu 37 17 4080500 4080500 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:4080500G>A ENST00000341657.4 - 19 2731 c.2696C>T c.(2695-2697)tCa>tTa p.S899L ANKFY1_ENST00000574367.1_Missense_Mutation_p.S900L|ANKFY1_ENST00000570535.1_Missense_Mutation_p.S941L|CYB5D2_ENST00000573984.1_Intron NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 899 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 CTGGACTCTTGAATTCACATT 0.473000 27 47 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1151641 1151641 + Silent SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:1151641G>C ENST00000356191.2 + 1 15 c.15G>C c.(13-15)cgG>cgC p.R5R mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GTGTTGGCCGGAGGAAGCTGG 0.662000 3 3 0 0 1 0 0 PELI2 57161 broad.mit.edu 37 14 56746399 56746399 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:56746399C>G ENST00000267460.4 + 3 499 c.213C>G c.(211-213)atC>atG p.I71M NM_021255.2 NP_067078.1 Q9HAT8 PELI2_HUMAN pellino E3 ubiquitin protein ligase family member 2 71 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 22 attaGGCTATCAGCTGCAAAG 0.373000 15 54 0 0 1 0 0 CLDN5 7122 broad.mit.edu 37 22 19511148 19511148 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:19511148C>T ENST00000406028.1 - 2 1946 c.886G>A c.(886-888)Gac>Aac p.D296N CLDN5_ENST00000413119.2_Missense_Mutation_p.D296N|CLDN5_ENST00000403084.1_Missense_Mutation_p.D296N O00501 CLD5_HUMAN claudin 5 211 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity liver(1)|lung(2)|prostate(1) 4 Colorectal(54;0.0993) TTGTCGTAGTCGCCGGTGGCC 0.716000 4 29 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30419888 30419888 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:30419888C>T ENST00000375994.2 + 11 1932 c.1659C>T c.(1657-1659)cgC>cgT p.R553R MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Silent_p.R553R Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 553 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GTAACCGACGCCTTAAGTCCC 0.592000 7 12 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179413895 179413895 + Missense_Mutation SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:179413895T>A ENST00000589042.1 - 339 92682 c.92458A>T c.(92458-92460)Aac>Tac p.N30820Y TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N21947Y|TTN_ENST00000460472.2_Missense_Mutation_p.N21755Y|TTN_ENST00000359218.5_Missense_Mutation_p.N21880Y|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.N28252Y|TTN_ENST00000591111.1_Missense_Mutation_p.N29179Y|TTN-AS1_ENST00000590932.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29179 Fibronectin type-III 124. 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) CCTGGTGGGTTGACGGGCTCT 0.463000 5 44 0 0 1 0 0 RARG 5916 broad.mit.edu 37 12 53607931 53607931 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:53607931A>G ENST00000425354.2 - 7 1212 c.725T>C c.(724-726)gTg>gCg p.V242A RARG_ENST00000327550.3_Missense_Mutation_p.V170A|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000394426.1_Missense_Mutation_p.V242A|RARG_ENST00000338561.5_Missense_Mutation_p.V231A|RARG_ENST00000543726.1_Missense_Mutation_p.V220A NM_000966.5 NP_000957.1 P13631 RARG_HUMAN retinoic acid receptor, gamma 242 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GGCAAACTCCACGATCTTGAT 0.557000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 37 122 0 0 1 0 0 SUN5 140732 broad.mit.edu 37 20 31573573 31573573 + Missense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:31573573A>T ENST00000356173.3 - 11 958 c.866T>A c.(865-867)cTg>cAg p.L289Q SUN5_ENST00000375523.3_Missense_Mutation_p.L264Q NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 289 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 GGCGGTGTCCAGGCTGCCTGA 0.562000 4 40 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31644371 31644371 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:31644371G>A ENST00000375494.3 + 2 148 c.148G>A c.(148-150)Gag>Aag p.E50K NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 50 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding ACTGGTTGGGGAGCCCATTCT 0.607000 43 73 0 0 1 0 0 MFSD12 126321 broad.mit.edu 37 19 3548011 3548011 + Silent SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:3548011C>A ENST00000355415.2 - 4 841 c.672G>T c.(670-672)gtG>gtT p.V224V MFSD12_ENST00000398558.4_Silent_p.V224V|AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Silent_p.V224V NM_174983.3 NP_778148.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 224 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 CGACACCCACCACCAGCAGGG 0.701000 3 23 0.004672 0.00484278 1 1 0 FAU 2197 broad.mit.edu 37 11 64889260 64889260 + Missense_Mutation SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:64889260T>A ENST00000529259.1 - 1 127 c.26A>T c.(25-27)gAg>gTg p.E9V FAU_ENST00000529639.1_Missense_Mutation_p.E9V|FAU_ENST00000531743.1_Missense_Mutation_p.E9V|FAU_ENST00000279259.3_Missense_Mutation_p.E9V|FAU_ENST00000525297.1_Missense_Mutation_p.E9V|FAU_ENST00000527548.1_Missense_Mutation_p.E9V|FAU_ENST00000434372.2_Missense_Mutation_p.E9V P35544 UBIM_HUMAN Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed 9 NS(3)|kidney(1)|large_intestine(2) 6 GGTGTGTAGCTCCTGGGCGCG 0.527000 5 42 0 0 1 0 0 NOP9 161424 broad.mit.edu 37 14 24769358 24769358 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:24769358C>T ENST00000267425.3 + 1 291 c.198C>T c.(196-198)cgC>cgT p.R66R NOP9_ENST00000396802.3_Silent_p.R66R NM_174913.1 NP_777573.1 NOP9 nucleolar protein GATATTTCCGCCGGGCGCTGT 0.637000 12 92 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108192066 108192066 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:108192066A>G ENST00000278616.4 + 45 6876 c.6491A>G c.(6490-6492)gAg>gGg p.E2164G ATM_ENST00000452508.2_Missense_Mutation_p.E2164G|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2164 FAT. E -> K (in T-prolymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CGCAGCCTTGAGTCTGTGTAT 0.413000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 10 78 0 0 1 0 0 ACY3 91703 broad.mit.edu 37 11 67412598 67412598 + Missense_Mutation SNP C C A rs142720670 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:67412598C>A ENST00000255082.3 - 6 722 c.552G>T c.(550-552)caG>caT p.Q184H ACY3_ENST00000529256.1_Missense_Mutation_p.Q63H NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 184 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) GCAGCACACCCTGTGGCTGGG 0.602000 24 82 1.10513e-12 1.30967e-12 1 1 0 TBC1D32 221322 broad.mit.edu 37 6 121562637 121562637 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:121562637G>C ENST00000275159.6 - 19 2218 c.2219C>G c.(2218-2220)gCa>gGa p.A740G TBC1D32_ENST00000398212.2_Missense_Mutation_p.A740G TBC1 domain family, member 32 AATGCCACCTGCTGCTGTTGA 0.338000 6 27 0 0 1 0 0 CACNA1E 777 broad.mit.edu 37 1 181754895 181754895 + Missense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:181754895A>T ENST00000526775.1 + 42 5834 c.5669A>T c.(5668-5670)cAg>cTg p.Q1890L CACNA1E_ENST00000367570.1_Missense_Mutation_p.Q1909L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Q1909L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.Q1516L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Q1860L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.Q1890L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Q1841L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1909 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TCTCTGCCTCAGGAGATCATT 0.507000 20 248 0 0 1 0 0 CPSF1 29894 broad.mit.edu 37 8 145624759 145624759 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:145624759C>T ENST00000349769.3 - 14 1393 c.1299G>A c.(1297-1299)gcG>gcA p.A433A NM_013291.2 NP_037423.2 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 160kDa 433 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding p.A433A(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CCGACTTACCCGCAGCTGCAC 0.657000 7 22 0 0 1 0 0 OR14K1 343170 broad.mit.edu 37 1 247902718 247902718 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:247902718C>T ENST00000283225.2 + 1 802 c.802C>T c.(802-804)Cta>Tta p.L268L RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 p.L268V(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 ACCTTCTATTCTAGACTTGCT 0.443000 4 36 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175052985 175052985 + Missense_Mutation SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:175052985T>A ENST00000239462.4 + 5 1261 c.1148T>A c.(1147-1149)cTg>cAg p.L383Q NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 383 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TACTACAAGCTGCGATATGGC 0.552000 6 80 0 0 1 0 0 CALD1 800 broad.mit.edu 37 7 134635196 134635196 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:134635196G>A ENST00000361388.2 + 9 1645 c.1179G>A c.(1177-1179)atG>atA p.M393I CALD1_ENST00000422748.1_Missense_Mutation_p.M393I|CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000424922.1_Missense_Mutation_p.M361I|CALD1_ENST00000393118.2_Missense_Mutation_p.M387I|CALD1_ENST00000417172.1_Missense_Mutation_p.M367I|CALD1_ENST00000361901.2_Missense_Mutation_p.M367I|CALD1_ENST00000543443.1_Missense_Mutation_p.M372I|CALD1_ENST00000495522.1_Missense_Mutation_p.M387I|CALD1_ENST00000361675.2_Missense_Mutation_p.M622I NM_033138.3|NM_033157.3 NP_149129.2|NP_149347.2 Q05682 CALD1_HUMAN caldesmon 1 622 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10) 43 GCCAGAAGATGCCAGAAGATG 0.418000 5 58 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62287326 62287326 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:62287326C>A ENST00000378024.4 - 5 14837 c.14563G>T c.(14563-14565)Gac>Tac p.D4855Y AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4855 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AAATCCAGGTCAACATCAGGT 0.433000 24 91 2.89027e-11 3.39478e-11 1 1 0 PARP14 54625 broad.mit.edu 37 3 122420202 122420202 + Missense_Mutation SNP T T G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:122420202T>G ENST00000474629.2 + 6 3067 c.2801T>G c.(2800-2802)gTg>gGg p.V934G NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 934 Macro 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) GGCCGATGCGTGGAGACCATT 0.448000 8 51 0 0 1 0 0 MYRF 745 broad.mit.edu 37 11 61543557 61543557 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:61543557C>T ENST00000278836.5 + 9 1437 c.1341C>T c.(1339-1341)atC>atT p.I447I MYRF_ENST00000327797.1_Silent_p.I72I|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Silent_p.I438I NM_001127392.1 NP_001120864.1 myelin regulatory factor CCATTAACATCGAGCAGTCCC 0.622000 5 64 0 0 1 0 0 XDH 7498 broad.mit.edu 37 2 31560610 31560610 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:31560610C>G ENST00000379416.3 - 35 3896 c.3848G>C c.(3847-3849)cGa>cCa p.R1283P NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1283 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTGCTGAGCTCGAGCTGCACG 0.577000 16 36 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47695171 47695171 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr21:47695171C>G ENST00000397708.1 - 7 2181 c.1927G>C c.(1927-1929)Gag>Cag p.E643Q MCM3AP_ENST00000291688.1_Missense_Mutation_p.E643Q O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 643 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) CTCTCCTTCTCAGGACACATA 0.537000 5 17 0 0 1 0 0 CSPG5 10675 broad.mit.edu 37 3 47604194 47604194 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:47604194C>A ENST00000383738.2 - 5 3695 c.1597G>T c.(1597-1599)Gag>Tag p.E533* CSPG5_ENST00000456150.1_Nonsense_Mutation_p.E368*|CSPG5_ENST00000264723.4_Nonsense_Mutation_p.E506* NM_001206943.1|NM_001206945.1 NP_001193872.1|NP_001193874.1 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan C) 533 cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) AATGACTCCTCCTCTTTCAGG 0.488000 19 78 3.32936e-07 3.7128e-07 1 1 0 KHDRBS1 10657 broad.mit.edu 37 1 32503563 32503563 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:32503563C>G ENST00000327300.7 + 6 1200 c.1033C>G c.(1033-1035)Cca>Gca p.P345A KHDRBS1_ENST00000492989.1_Missense_Mutation_p.P306A|KHDRBS1_ENST00000307714.8_3'UTR NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 345 Pro-rich. cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGCTCCAGCACCAAGAGCACG 0.542000 10 108 0 0 1 0 0 TTK 7272 broad.mit.edu 37 6 80746227 80746227 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:80746227C>G ENST00000509894.1 + 17 2786 c.1957C>G c.(1957-1959)Ctg>Gtg p.L653V TTK_ENST00000369798.2_Missense_Mutation_p.L654V|TTK_ENST00000230510.3_Missense_Mutation_p.L653V P33981 TTK_HUMAN TTK protein kinase 654 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1) 53 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AGCTAACTTTCTGATAGTTGA 0.318000 5 59 0 0 1 0 0 PPP2R5D 5528 broad.mit.edu 37 6 42974675 42974675 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:42974675C>T ENST00000485511.1 + 4 528 c.349C>T c.(349-351)Ctg>Ttg p.L117L PPP2R5D_ENST00000461010.1_Silent_p.L11L|PPP2R5D_ENST00000394110.3_Silent_p.L85L|PPP2R5D_ENST00000472118.1_Silent_p.L109L NM_001270476.1|NM_006245.3 NP_001257405.1|NP_006236.1 Q14738 2A5D_HUMAN protein phosphatase 2, regulatory subunit B', delta 117 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.L117L(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 25 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCGGGAGGAGCTGTTTATCCA 0.562000 24 151 0 0 1 0 0 CWC27 10283 broad.mit.edu 37 5 64314141 64314141 + Missense_Mutation SNP G G C rs143234808 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:64314141G>C ENST00000381070.3 + 14 1629 c.1412G>C c.(1411-1413)aGa>aCa p.R471T CWC27_ENST00000545000.1_3'UTR NM_005869.2 NP_005860.2 Q6UX04 CWC27_HUMAN CWC27 spliceosome-associated protein homolog (S. cerevisiae) 471 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1) 21 AAAAAAGAAAGAAGATAAAAT 0.388000 14 44 0 0 1 0 0 AFAP1L1 134265 broad.mit.edu 37 5 148695811 148695811 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:148695811G>C ENST00000296721.4 + 11 1310 c.1212G>C c.(1210-1212)aaG>aaC p.K404N AFAP1L1_ENST00000515000.1_Missense_Mutation_p.K404N NM_001146337.1|NM_152406.2 NP_001139809.1|NP_689619.1 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 404 protein binding breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2) 26 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAAGAAGAAGACACTGGCCG 0.612000 5 68 0 0 1 0 0 DAXX 1616 broad.mit.edu 37 6 33288742 33288742 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:33288742G>A ENST00000374542.5 - 3 1014 c.810C>T c.(808-810)cgC>cgT p.R270R DAXX_ENST00000266000.6_Silent_p.R270R|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000414083.2_Silent_p.R195R NM_001141969.1|NM_001141970.1|NM_001350.4 NP_001135441.1|NP_001135442.1|NP_001341.1 Q9UER7 DAXX_HUMAN death-domain associated protein 270 activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 55 GCCGCTCAATGCGCCTGTTAA 0.597000 """Mis, F, N""" Pancreatic neuroendocrine tumors. Paediatric GBM 41 59 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39866329 39866329 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:39866329C>G ENST00000314471.6 + 7 1742 c.707C>G c.(706-708)tCc>tGc p.S236C SAMD4B_ENST00000596368.1_Missense_Mutation_p.S236C|SAMD4B_ENST00000598913.1_Missense_Mutation_p.S236C NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 236 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CTGAAGCGCTCCATGTCACTC 0.602000 23 244 0 0 1 0 0 MED17 9440 broad.mit.edu 37 11 93540715 93540715 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:93540715G>C ENST00000251871.3 + 10 1785 c.1498G>C c.(1498-1500)Gag>Cag p.E500Q MED17_ENST00000533367.1_3'UTR NM_004268.4 NP_004259.3 Q9NVC6 MED17_HUMAN mediator complex subunit 17 500 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(2)|lung(11)|ovary(1) 14 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TATTGGAGTTGAGCAGATTCG 0.338000 21 53 0 0 1 0 0 VPS16 64601 broad.mit.edu 37 20 2842542 2842542 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:2842542C>A ENST00000380445.3 + 10 1063 c.991C>A c.(991-993)Cca>Aca p.P331T VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380469.3_Intron NM_022575.2 NP_072097.2 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 homolog (S. cerevisiae) 331 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 37 GCATGAGGTTCCAGGTGAGGC 0.612000 7 22 5.18039e-06 5.68126e-06 1 1 0 TIMM50 92609 broad.mit.edu 37 19 39976916 39976916 + Silent SNP G G A rs62120692 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:39976916G>A ENST00000314349.4 + 7 1024 c.891G>A c.(889-891)acG>acA p.T297T TIMM50_ENST00000599794.1_Intron|TIMM50_ENST00000544017.1_Silent_p.T81T|TIMM50_ENST00000607714.1_Silent_p.T194T NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 194 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCATCTTTACGTCAGAGACTG 0.552000 31 225 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36722033 36722033 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:36722033C>A ENST00000399881.3 + 19 2040 c.2003C>A c.(2002-2004)aCc>aAc p.T668N NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 668 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCAAACTTCACCACCAGGTAA 0.398000 25 54 7.87624e-14 9.39e-14 1 1 0 PISD 23761 broad.mit.edu 37 22 32044244 32044244 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:32044244G>C ENST00000439502.2 - 3 387 c.164C>G c.(163-165)aCt>aGt p.T55S PISD_ENST00000336566.4_Missense_Mutation_p.T55S Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 55 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 12 Phosphatidylserine(DB00144) GGCAGGGGCAGTGTGGATTTT 0.527000 5 3 0 0 1 0 0 RAD21 5885 broad.mit.edu 37 8 117866648 117866648 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:117866648C>G ENST00000297338.2 - 9 1284 c.997G>C c.(997-999)Gat>Cat p.D333H NM_006265.2 NP_006256.1 O60216 RAD21_HUMAN RAD21 homolog (S. pombe) 333 Interaction with WAPAL and PDS5B. apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1) 32 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) GTCTTGCTATCCAACTCTTTG 0.378000 41 88 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78359611 78359611 + Splice_Site SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:78359611C>G ENST00000255189.3 - 2 130 c.e2-1 DMGDH_ENST00000520388.1_Intron|DMGDH_ENST00000540686.1_Splice_Site|DMGDH_ENST00000380311.4_Splice_Site NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTTTTCCTCTCTGGAAGAGGG 0.448000 13 54 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32945213 32945213 + Nonsense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:32945213C>T ENST00000544455.1 + 20 8835 c.8608C>T c.(8608-8610)Cag>Tag p.Q2870* BRCA2_ENST00000380152.3_Nonsense_Mutation_p.Q2870* NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2870 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CACTAAAATTCAGGAGGAATT 0.318000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 12 51 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26702466 26702466 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:26702466C>T ENST00000272371.2 - 17 2094 c.1968G>A c.(1966-1968)cgG>cgA p.R656R OTOF_ENST00000403946.3_Silent_p.R656R NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 656 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGGCTCCTTCCGGGGCCGAG 0.627000 8 21 0 0 1 0 0 CSF1R 1436 broad.mit.edu 37 5 149433917 149433917 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:149433917G>C ENST00000286301.3 - 21 3022 c.2731C>G c.(2731-2733)Cag>Gag p.Q911E NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 911 cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GCCTGCTCCTGAAGGAAGGAG 0.622000 19 35 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53673530 53673530 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:53673530G>A ENST00000257934.4 + 12 2470 c.2379G>A c.(2377-2379)ctG>ctA p.L793L ESPL1_ENST00000552462.1_Silent_p.L793L NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 793 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 TGCAGGCTCTGGAGGTCCTCC 0.597000 38 87 0 0 1 0 0 VEGFB 7423 broad.mit.edu 37 11 64004936 64004936 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:64004936G>A ENST00000309422.2 + 6 751 c.455G>A c.(454-456)gGc>gAc p.G152D VEGFB_ENST00000426086.2_Intron NM_001243733.1|NM_003377.4 NP_001230662.1|NP_003368.1 P49765 VEGFB_HUMAN vascular endothelial growth factor B 152 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding endometrium(2)|large_intestine(2)|prostate(1)|stomach(1) 6 TCTGTTCCGGGCTGGGACTCT 0.682000 5 24 0 0 1 0 0 TOM1 10043 broad.mit.edu 37 22 35723369 35723369 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:35723369G>A ENST00000382034.5 + 8 895 c.553G>A c.(553-555)Gag>Aag p.E185K TOM1_ENST00000449058.2_Missense_Mutation_p.E252K|TOM1_ENST00000436462.2_Missense_Mutation_p.E214K|TOM1_ENST00000425375.1_Missense_Mutation_p.E207K|TOM1_ENST00000411850.1_Missense_Mutation_p.E252K|TOM1_ENST00000447733.1_Missense_Mutation_p.E219K O60784 TOM1_HUMAN target of myb1 (chicken) 252 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 CGCAGACCTGGAGCTGCTGCA 0.622000 3 22 0 0 1 0 0 TRIM41 90933 broad.mit.edu 37 5 180661586 180661586 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:180661586G>A ENST00000315073.5 + 6 2414 c.1704G>A c.(1702-1704)acG>acA p.T568T TRIM41_ENST00000510072.1_3'UTR|TRIM41_ENST00000351937.5_Intron NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 568 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGAACAGACGCTGCTGAGCC 0.632000 5 58 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45812892 45812892 + Nonsense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:45812892G>C ENST00000358525.4 - 6 867 c.752C>G c.(751-753)tCa>tGa p.S251* SLC6A20_ENST00000456124.2_Nonsense_Mutation_p.S251*|SLC6A20_ENST00000353278.4_Nonsense_Mutation_p.S214* NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 251 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CAGGCCAAGTGAGAAGAAGAT 0.587000 11 30 0 0 1 0 0 DNASE2B 58511 broad.mit.edu 37 1 84880418 84880418 + Missense_Mutation SNP G G A rs146223730 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:84880418G>A ENST00000370665.3 + 6 986 c.953G>A c.(952-954)cGc>cAc p.R318H DNASE2B_ENST00000370662.3_Missense_Mutation_p.R110H NM_021233.2 NP_067056.2 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta 318 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) ACCAAAAATCGCTGGACATGT 0.388000 11 34 0 0 1 0 0 DAOA 267012 broad.mit.edu 37 13 106124975 106124975 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:106124975G>C ENST00000329625.5 + 3 287 c.9G>C c.(7-9)caG>caC p.Q3H DAOA_ENST00000375936.3_Missense_Mutation_p.Q74H|DAOA-AS1_ENST00000448407.1_RNA P59103 DAOA_HUMAN D-amino acid oxidase activator 74 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) AAATGGCACAGAGGCATTTAC 0.428000 6 39 0 0 1 0 0 ACSS3 79611 broad.mit.edu 37 12 81648681 81648681 + Nonsense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:81648681G>T ENST00000548058.1 + 16 2951 c.2041G>T c.(2041-2043)Gaa>Taa p.E681* ACSS3_ENST00000548324.1_Nonsense_Mutation_p.E363*|ACSS3_ENST00000261206.3_Nonsense_Mutation_p.E680* Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 681 mitochondrion acetate-CoA ligase activity|ATP binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 51 CCACGTAGAAGAAATGCTGAA 0.308000 9 65 1.12685e-05 1.22564e-05 1 1 0 MRTO4 51154 broad.mit.edu 37 1 19584361 19584361 + Nonsense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:19584361C>T ENST00000330263.4 + 6 673 c.376C>T c.(376-378)Cga>Tga p.R126* NM_016183.3 NP_057267.2 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog (S. cerevisiae) 126 ribosome biogenesis nuclear membrane|nucleolus breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGACTACGCCCGAGCTGGTAA 0.587000 19 99 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:178936082G>A ENST00000263967.3 + 10 1781 c.1624G>A c.(1624-1626)Gaa>Aaa p.E542K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(545)|p.E542Q(10) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333000 E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 15 52 0 0 1 0 0 STRBP 55342 broad.mit.edu 37 9 125898437 125898437 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:125898437G>C ENST00000447404.2 - 15 1960 c.1656C>G c.(1654-1656)ttC>ttG p.F552L STRBP_ENST00000348403.5_Missense_Mutation_p.F552L|STRBP_ENST00000360998.3_Missense_Mutation_p.F538L Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 552 DRBM 2. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2) 26 CTGCGCCTCTGAATTTCTGTC 0.393000 10 71 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50854654 50854654 + Silent SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:50854654C>G ENST00000395562.2 + 9 1438 c.969C>G c.(967-969)ctC>ctG p.L323L CHAT_ENST00000395559.2_Silent_p.L287L|CHAT_ENST00000339797.1_Silent_p.L287L|CHAT_ENST00000455728.2_Silent_p.L287L|CHAT_ENST00000351556.3_Silent_p.L287L|CHAT_ENST00000337653.2_Silent_p.L405L NM_001142933.1|NM_001142934.1 NP_001136405|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 405 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ACAGGGCACTCCAGCTCCTTC 0.637000 14 43 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131475651 131475651 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:131475651C>T ENST00000291906.4 + 8 1470 c.1077C>T c.(1075-1077)gtC>gtT p.V359V NM_013355.3 NP_037487.2 Q6P5Z2 PKN3_HUMAN protein kinase N3 359 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 AGACCTTTGTCATCCCACTGG 0.652000 8 31 0 0 1 0 0 ZNF223 7766 broad.mit.edu 37 19 44571048 44571048 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:44571048C>T ENST00000591793.1 + 7 1480 c.1397C>T c.(1396-1398)tCc>tTc p.S466F ZNF223_ENST00000434772.3_Missense_Mutation_p.S356F Q9UK11 ZN223_HUMAN zinc finger protein 223 356 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 Prostate(69;0.0352) TTCAGACGGTCCTCCTATCTT 0.438000 7 139 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298848 125298848 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:125298848G>C ENST00000538699.1 - 2 1140 c.1060C>G c.(1060-1062)Cgg>Ggg p.R354G DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R354G NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 354 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CTCAGCGACCGCACGCCTGTG 0.637000 9 40 0 0 1 0 0 RASAL2 9462 broad.mit.edu 37 1 178427347 178427347 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:178427347G>T ENST00000448150.3 + 14 3705 c.2887G>T c.(2887-2889)Gat>Tat p.D963Y RASAL2_ENST00000367649.3_Missense_Mutation_p.D974Y|RASAL2_ENST00000462775.1_Missense_Mutation_p.D833Y NM_170692.2 NP_733793.2 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 833 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 CAGCATGGAAGATTTCACTAA 0.478000 13 89 0.0931896 0.0946196 1 1 0 FH 2271 broad.mit.edu 37 1 241665791 241665791 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:241665791G>T ENST00000366560.3 - 8 1226 c.1188C>A c.(1186-1188)gtC>gtA p.V396V NM_000143.3 NP_000134.2 P07954 FUMH_HUMAN fumarate hydratase 396 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) TGCTGCCTCCGACAGTGACAG 0.413000 """Mis, N, F""" """lieomyomatosis, renal""" Hereditary Leiomyomatosis and Renal Cell Cancer 15 60 2.32078e-09 2.67058e-09 1 1 0 VCAN 1462 broad.mit.edu 37 5 82835422 82835422 + Silent SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:82835422T>A ENST00000265077.3 + 8 7165 c.6600T>A c.(6598-6600)acT>acA p.T2200T VCAN_ENST00000343200.5_Silent_p.T1213T|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2200 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CTGAAGCTACTGAAAAGTCAC 0.368000 17 90 0 0 1 0 0 FAM167B 84734 broad.mit.edu 37 1 32713099 32713099 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:32713099C>T ENST00000373582.3 + 1 266 c.77C>T c.(76-78)tCt>tTt p.S26F NM_032648.2 NP_116037.2 Q9BTA0 F167B_HUMAN family with sequence similarity 167, member B 26 endometrium(1)|large_intestine(1)|lung(1)|ovary(2) 5 AGCCTGGACTCTGTGAAGGCA 0.622000 15 30 0 0 1 0 0 NPHP1 4867 broad.mit.edu 37 2 110881615 110881615 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:110881615G>C ENST00000316534.4 - 20 2028 c.1955C>G c.(1954-1956)aCg>aGg p.T652R NPHP1_ENST00000355301.4_Missense_Mutation_p.T533R|NPHP1_ENST00000417665.1_Missense_Mutation_p.T630R|NPHP1_ENST00000445609.2_Missense_Mutation_p.T596R|NPHP1_ENST00000393272.3_Missense_Mutation_p.T651R O15259 NPHP1_HUMAN nephronophthisis 1 (juvenile) 651 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2) 24 CAGGAGAAACGTGGACTTCAG 0.458000 7 85 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36168216 36168216 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:36168216G>A ENST00000357641.6 + 2 370 c.117G>A c.(115-117)cgG>cgA p.R39R BRPF3_ENST00000339717.7_Silent_p.R39R|BRPF3_ENST00000543502.1_Silent_p.R39R|BRPF3_ENST00000534694.1_Silent_p.R39R|BRPF3_ENST00000443324.2_Silent_p.R39R|BRPF3_ENST00000534400.1_Silent_p.R39R NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 39 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 AGGCCCAGCGGATTGTCGAGG 0.572000 4 65 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88643559 88643559 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr16:88643559G>C ENST00000301011.5 + 2 228 c.28G>C c.(28-30)Gat>Cat p.D10H ZC3H18_ENST00000452588.2_Missense_Mutation_p.D10H NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 10 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) CCCTGAACGGGATCCTCACTC 0.547000 7 42 0 0 1 0 0 C6orf10 10665 broad.mit.edu 37 6 32261017 32261017 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:32261017G>A ENST00000375015.4 - 26 1630 c.1430C>T c.(1429-1431)tCa>tTa p.S477L C6orf10_ENST00000375007.4_Missense_Mutation_p.S476L|C6orf10_ENST00000447241.2_Missense_Mutation_p.S478L|C6orf10_ENST00000527965.1_Missense_Mutation_p.S462L|C6orf10_ENST00000533191.1_Missense_Mutation_p.S476L|C6orf10_ENST00000442822.2_Intron Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 478 Lys-rich. integral to membrane cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 25 TAGTACACCTGACTCACTCTT 0.418000 18 179 0 0 1 0 0 ALYREF 10189 broad.mit.edu 37 17 79846256 79846256 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:79846256C>G ENST00000331204.4 - 5 646 c.620G>C c.(619-621)gGa>gCa p.G207A ALYREF_ENST00000505490.2_Missense_Mutation_p.G214A NM_005782.3 NP_005773.3 Q86V81 THOC4_HUMAN Aly/REF export factor 207 Ala/Arg/Gly-rich. intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding ACCAAAACCTCCAGCGCCACG 0.612000 8 15 0 0 1 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095532 178095532 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:178095532G>C ENST00000397062.3 - 5 2353 c.1799C>G c.(1798-1800)cCa>cGa p.P600R NFE2L2_ENST00000397063.4_Missense_Mutation_p.P584R|NFE2L2_ENST00000446151.2_Missense_Mutation_p.P577R|NFE2L2_ENST00000464747.1_Missense_Mutation_p.P584R NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 600 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) CTTAACATCTGGCTTCTTACT 0.368000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 10 97 0 0 1 0 0 MPP6 51678 broad.mit.edu 37 7 24663374 24663374 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:24663374G>C ENST00000222644.5 + 2 338 c.88G>C c.(88-90)Gag>Cag p.E30Q MPP6_ENST00000396475.2_Missense_Mutation_p.E30Q|MPP6_ENST00000409761.1_Intron Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) L27 1. protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 GGGAATTATGGAGAATCCTAT 0.343000 7 36 0 0 1 0 0 MYLK2 85366 broad.mit.edu 37 20 30419638 30419638 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:30419638C>T ENST00000375994.2 + 10 1830 c.1557C>T c.(1555-1557)aaC>aaT p.N519N MYLK2_ENST00000468730.1_3'UTR|MYLK2_ENST00000375985.4_Silent_p.N519N Q9H1R3 MYLK2_HUMAN myosin light chain kinase 2 519 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 33 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TTGTCTCCAACCTCATCGTCA 0.517000 7 75 0 0 1 0 0 ATP6V0D1 9114 broad.mit.edu 37 16 67514921 67514921 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr16:67514921C>T ENST00000290949.3 - 1 219 c.69G>A c.(67-69)ctG>ctA p.L23L ATP6V0D1_ENST00000540149.1_Silent_p.L23L NM_004691.4 NP_004682.2 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 23 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex large_intestine(3)|lung(3)|urinary_tract(2) 8 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) CCCCGGCCTTCAGGCCGCGCA 0.652000 15 44 0 0 1 0 0 SLAMF9 89886 broad.mit.edu 37 1 159923348 159923348 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:159923348C>T ENST00000368093.3 - 2 258 c.142G>A c.(142-144)Gaa>Aaa p.E48K SLAMF9_ENST00000368092.3_Missense_Mutation_p.E48K NM_033438.3 NP_254273.2 Q96A28 SLAF9_HUMAN SLAM family member 9 48 integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCAACCTCTTCATCTGGTGGT 0.532000 9 83 0 0 1 0 0 POSTN 10631 broad.mit.edu 37 13 38153448 38153448 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:38153448C>G ENST00000379747.4 - 13 1826 c.1709G>C c.(1708-1710)gGa>gCa p.G570A POSTN_ENST00000541179.1_Missense_Mutation_p.G570A|POSTN_ENST00000379743.4_Missense_Mutation_p.G570A|POSTN_ENST00000541481.1_Missense_Mutation_p.G570A|POSTN_ENST00000379749.4_Missense_Mutation_p.G570A|POSTN_ENST00000379742.4_Missense_Mutation_p.G570A NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 570 FAS1 4. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AATGAAAACTCCTGGTGTCAG 0.318000 14 74 0 0 1 0 0 PPP1R8 5511 broad.mit.edu 37 1 28176864 28176864 + Silent SNP C C G rs144281839 byFrequency TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:28176864C>G ENST00000373931.4 + 7 1332 c.537C>G c.(535-537)gtC>gtG p.V179V PPP1R8_ENST00000236412.7_Silent_p.V97V|PPP1R8_ENST00000486634.1_3'UTR|PPP1R8_ENST00000311772.5_Silent_p.V321V NM_138558.2 NP_612568.1 Q12972 PP1R8_HUMAN protein phosphatase 1, regulatory subunit 8 321 Interaction with EED. mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent cytoplasm|nuclear speck|spliceosomal complex DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) ACCCTGCAGTCTATAACCCTG 0.488000 9 85 0 0 1 0 0 SEMA3B 7869 broad.mit.edu 37 3 50311844 50311844 + RNA SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:50311844C>A ENST00000418948.1 + 0 1422 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) ACTTCCCAGACGATGTCATCC 0.572000 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 76 1.9806e-07 2.22747e-07 1 1 0 SEMA3F 6405 broad.mit.edu 37 3 50197151 50197151 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:50197151C>T ENST00000002829.3 + 2 580 c.96C>T c.(94-96)gtC>gtT p.V32V SEMA3F_ENST00000434342.1_Silent_p.V32V|SEMA3F_ENST00000413852.1_5'UTR NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 32 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CGCCCCGGGTCCGGCTCTCAT 0.587000 5 22 0 0 1 0 0 LPIN2 9663 broad.mit.edu 37 18 2939525 2939525 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr18:2939525C>T ENST00000261596.4 - 6 1013 c.775G>A c.(775-777)Gag>Aag p.E259K NM_014646.2 NP_055461.1 Q92539 LPIN2_HUMAN lipin 2 259 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) ATGTGAGACTCTGATCTGAGC 0.512000 41 36 0 0 1 0 0 CD207 50489 broad.mit.edu 37 2 71058238 71058238 + Silent SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:71058238T>C ENST00000410009.3 - 6 975 c.930A>G c.(928-930)ccA>ccG p.P310P NM_015717.3 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 310 C-type lectin. defense response to virus endocytic vesicle|integral to membrane mannose binding endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 TTTTGTCACATGGGGCATCAT 0.493000 6 38 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 75018986 75018986 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:75018986C>G ENST00000261978.4 - 6 1689 c.1303G>C c.(1303-1305)Gac>Cac p.D435H LTBP2_ENST00000556690.1_Missense_Mutation_p.D435H|CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 435 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGCTCCCTGTCCGGCTGCGGG 0.672000 4 51 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14399063 14399063 + Missense_Mutation SNP T T G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:14399063T>G ENST00000344204.4 + 30 4522 c.4498T>G c.(4498-4500)Tta>Gta p.L1500V TRIO_ENST00000509967.2_Missense_Mutation_p.L1451V|TRIO_ENST00000537187.1_Missense_Mutation_p.L1500V NM_007118.2 NP_009049.2 O75962 TRIO_HUMAN trio Rho guanine nucleotide exchange factor 1500 PH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CCCAAAAACCTTAATTCGAAA 0.408000 17 68 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21693375 21693375 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:21693375G>A ENST00000261195.2 - 14 2032 c.1778C>T c.(1777-1779)tCa>tTa p.S593L NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 593 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 CAGAAGATCTGAGAGCCTCTC 0.403000 26 160 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205290642 205290642 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:205290642C>A ENST00000367157.3 - 1 241 c.115G>T c.(115-117)Gcg>Tcg p.A39S NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 39 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CGCTTCACCGCCTGCTTCTTC 0.667000 4 19 0.00909568 0.00935488 1 1 0 CDC37L1 55664 broad.mit.edu 37 9 4679834 4679834 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:4679834G>C ENST00000381854.3 + 1 269 c.67G>C c.(67-69)Gag>Cag p.E23Q CDC37L1_ENST00000479095.1_3'UTR|CDC37L1_ENST00000381858.1_Missense_Mutation_p.E23Q NM_017913.2 NP_060383.2 Q7L3B6 CD37L_HUMAN cell division cycle 37-like 1 23 Self-association. cytoplasm breast(1)|kidney(1)|lung(2) 4 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) GGCTGAGGAAGAGAGTGACTT 0.697000 OREG0019085 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 40 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179613062 179613062 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:179613062C>T ENST00000360870.5 - 46 14287 c.14065G>A c.(14065-14067)Gag>Aag p.E4689K TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 804 Ig-like 27. 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) CTACTTTTCTCCACCATAGTT 0.318000 47 63 0 0 1 0 0 BRCA1 672 broad.mit.edu 37 17 41203122 41203122 + Missense_Mutation SNP G G T rs80357886 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:41203122G>T ENST00000309486.4 - 19 5429 c.4402C>A c.(4402-4404)Cta>Ata p.L1468I BRCA1_ENST00000357654.3_Missense_Mutation_p.L1764I|BRCA1_ENST00000351666.3_Missense_Mutation_p.L581I|BRCA1_ENST00000586385.1_Missense_Mutation_p.L74I|BRCA1_ENST00000493795.1_Missense_Mutation_p.L1717I|BRCA1_ENST00000354071.3_Missense_Mutation_p.L1499I|BRCA1_ENST00000346315.3_Missense_Mutation_p.L1525I|BRCA1_ENST00000591534.1_Missense_Mutation_p.L255I|BRCA1_ENST00000352993.3_Missense_Mutation_p.L622I|BRCA1_ENST00000471181.2_Missense_Mutation_p.L1785I|BRCA1_ENST00000468300.1_Missense_Mutation_p.L660I|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Missense_Mutation_p.L660I NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1764 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CAGATTTCTAGCCCCCTGAAG 0.463000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 8 40 0.00307968 0.00322594 1 1 0 ECHDC3 79746 broad.mit.edu 37 10 11789413 11789413 + Missense_Mutation SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:11789413A>C ENST00000379215.4 + 2 447 c.236A>C c.(235-237)cAa>cCa p.Q79P ECHDC3_ENST00000496136.1_3'UTR NM_024693.4 NP_078969 Q96DC8 ECHD3_HUMAN enoyl CoA hydratase domain containing 3 79 mitochondrion catalytic activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1) 4 AAGTCTCTCCAAAGTGACATT 0.438000 17 99 0 0 1 0 0 CASKIN2 57513 broad.mit.edu 37 17 73498743 73498743 + Silent SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:73498743A>T ENST00000321617.3 - 18 2998 c.2412T>A c.(2410-2412)ccT>ccA p.P804P CASKIN2_ENST00000433559.2_Silent_p.P722P NM_020753.3 NP_065804.2 Q8WXE0 CSKI2_HUMAN CASK interacting protein 2 804 Pro-rich. cytoplasm endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 18 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;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGTGGGGCCAGGGCGGCTTA 0.711000 3 6 0 0 1 0 0 BCAS4 55653 broad.mit.edu 37 20 49493030 49493030 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:49493030C>G ENST00000371608.2 + 5 497 c.497C>G c.(496-498)cCt>cGt p.P166R BCAS4_ENST00000358791.5_Silent_p.T198T|BCAS4_ENST00000609336.1_Silent_p.T168T|BCAS4_ENST00000262591.5_Missense_Mutation_p.P121R NM_198799.2 NP_942094.2 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 0 cytoplasm large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1) 6 CAGAAGTCACCTGCACCGGTG 0.557000 16 107 0 0 1 0 0 RAB3GAP1 22930 broad.mit.edu 37 2 135884205 135884205 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:135884205G>A ENST00000264158.8 + 11 995 c.952G>A c.(952-954)Gag>Aag p.E318K RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.E274K|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.E318K NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein subunit 1 (catalytic) 318 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 BRCA - Breast invasive adenocarcinoma(221;0.117) TCGAAAAGCTGAGAATCCTCA 0.368000 33 80 0 0 1 0 0 SLC6A11 6538 broad.mit.edu 37 3 10858095 10858095 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:10858095G>A ENST00000254488.2 + 1 211 c.145G>A c.(145-147)Gag>Aag p.E49K SLC6A11_ENST00000454147.1_Missense_Mutation_p.E49K NM_014229.1 NP_055044.1 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter transporter), member 11 49 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4) 35 OV - Ovarian serous cystadenocarcinoma(96;0.229) GGCGGTCCACGAGCGCGGCCA 0.716000 3 13 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36301437 36301437 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:36301437G>C ENST00000373210.3 + 13 1812 c.1567G>C c.(1567-1569)Gag>Cag p.E523Q NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 ttttGTAGCGGAGGTGAAACG 0.363000 6 38 0 0 1 0 0 TIAM2 26230 broad.mit.edu 37 6 155500249 155500249 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:155500249C>T ENST00000461783.3 + 13 3873 c.2600C>T c.(2599-2601)cCt>cTt p.P867L TIAM2_ENST00000360366.4_Missense_Mutation_p.P891L|TIAM2_ENST00000318981.5_Missense_Mutation_p.P867L|TIAM2_ENST00000367174.2_Missense_Mutation_p.P243L|TIAM2_ENST00000529824.2_Missense_Mutation_p.P867L|TIAM2_ENST00000528391.2_Missense_Mutation_p.P203L|TIAM2_ENST00000456144.1_Missense_Mutation_p.P867L|TIAM2_ENST00000456877.2_Missense_Mutation_p.P179L Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 867 RBD. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 65 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TATTGCATCCCTGCACCATAT 0.388000 15 51 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 177133537 177133537 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:177133537G>A ENST00000367654.3 - 1 487 c.276C>T c.(274-276)ttC>ttT p.F92F ASTN1_ENST00000424564.2_Silent_p.F92F|ASTN1_ENST00000367657.3_Silent_p.F92F|ASTN1_ENST00000361833.2_Silent_p.F92F|ASTN1_ENST00000281881.3_5'UTR NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane p.F92F(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 CACCCAGCACGAAGTAGGGCA 0.692000 4 15 0 0 1 0 0 AP4E1 23431 broad.mit.edu 37 15 51289655 51289655 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:51289655G>A ENST00000261842.5 + 18 2585 c.2479G>A c.(2479-2481)Gaa>Aaa p.E827K AP4E1_ENST00000560508.1_Missense_Mutation_p.E752K NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 827 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TGTGGCATATGAAGATGATTA 0.353000 9 55 0 0 1 0 0 TRMT1L 81627 broad.mit.edu 37 1 185113039 185113039 + Splice_Site SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:185113039G>C ENST00000367504.3 - 6 1049 c.310C>G c.(310-312)Cgg>Ggg p.R104G TRMT1L_ENST00000367506.5_Splice_Site_p.R260G Q7Z2T5 TRM1L_HUMAN tRNA methyltransferase 1 homolog (S. cerevisiae)-like 260 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 21 TTATCTTACCGATTTAGTTTC 0.303000 8 34 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32740790 32740790 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:32740790C>G ENST00000421745.2 + 55 11436 c.11302C>G c.(11302-11304)Cta>Gta p.L3768V NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 3768 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) TGCGTTCTTTCTACAGTGCAT 0.393000 16 35 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133948082 133948082 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:133948082G>A ENST00000220616.4 + 25 5054 c.5014G>A c.(5014-5016)Gat>Aat p.D1672N TG_ENST00000377869.1_Missense_Mutation_p.D1615N|TG_ENST00000542445.1_Missense_Mutation_p.D106N NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 1672 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCATGGTCAAGATTCTCCAGC 0.527000 8 34 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83861316 83861316 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:83861316C>A ENST00000349129.2 + 28 6102 c.5842C>A c.(5842-5844)Ctg>Atg p.L1948M DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.L1939M|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L1894M NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 1948 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) TTTTAGGGTTCTGAATGAGTT 0.378000 3 19 0.115264 0.116437 1 1 0 VTI1B 10490 broad.mit.edu 37 14 68129250 68129250 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:68129250C>T ENST00000554659.1 - 2 459 c.118G>A c.(118-120)Gaa>Aaa p.E40K RP11-1012A1.4_ENST00000553306.1_3'UTR|RP11-1012A1.4_ENST00000554493.1_5'UTR NM_006370.2 NP_006361.1 Q9UEU0 VTI1B_HUMAN vesicle transport through interaction with t-SNAREs 1B 40 cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis endomembrane system|integral to membrane endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941) TTCTTCTTTTCTTCTAGAAAA 0.378000 6 35 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21992472 21992472 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:21992472C>T ENST00000594012.1 - 7 863 c.349G>A c.(349-351)Gag>Aag p.E117K ZNF43_ENST00000354959.4_Missense_Mutation_p.E123K|ZNF43_ENST00000595461.1_Missense_Mutation_p.E117K|ZNF43_ENST00000598381.1_Missense_Mutation_p.E117K NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ACCTTACACTCATCCACACTT 0.338000 6 110 0 0 1 0 0 DUT 1854 broad.mit.edu 37 15 48626677 48626677 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:48626677G>A ENST00000331200.3 + 3 576 c.483G>A c.(481-483)gcG>gcA p.A161A DUT_ENST00000561350.1_3'UTR|DUT_ENST00000455976.2_Silent_p.A73A|DUT_ENST00000559540.1_Silent_p.A73A|DUT_ENST00000558813.1_Silent_p.A50A|DUT_ENST00000559935.1_Silent_p.A76A|DUT_ENST00000559416.1_Silent_p.A76A NM_001025248.1|NM_001025249.1 NP_001020419.1|NP_001020420.1 P33316 DUT_HUMAN deoxyuridine triphosphatase 161 DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process mitochondrion|nucleoplasm dUTP diphosphatase activity|protein binding kidney(2) 2 all_lung(180;0.00265) all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07) TTCAGATAGCGCTCCCTTCTG 0.363000 Modulation of nucleotide pools 6 39 0 0 1 0 0 HSPBAP1 79663 broad.mit.edu 37 3 122459597 122459597 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:122459597C>A ENST00000306103.2 - 8 1205 c.1062G>T c.(1060-1062)atG>atT p.M354I HSPBAP1_ENST00000383659.1_3'UTR NM_024610.5 NP_078886.2 Q96EW2 HBAP1_HUMAN HSPB (heat shock 27kDa) associated protein 1 354 cytoplasm breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1) 16 GBM - Glioblastoma multiforme(114;0.0531) CTTCCTTTTTCATGTGCTCTC 0.458000 17 236 1.33834e-09 1.54453e-09 1 1 0 NKAIN2 154215 broad.mit.edu 37 6 124979332 124979332 + Splice_Site SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:124979332G>C ENST00000368417.1 + 4 334 c.274G>C c.(274-276)Gaa>Caa p.E92Q NKAIN2_ENST00000368416.1_Splice_Site_p.E92Q|NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Splice_Site_p.E77Q NM_001040214.1 NP_001035304.1 Q5VXU1 NKAI2_HUMAN Na+/K+ transporting ATPase interacting 2 92 Breakpoint for interstitial deletion to form SUSP1-NKAIN2. integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) CTTCTTGCAGGAAACAGACCT 0.428000 8 38 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38098555 38098555 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr21:38098555C>T ENST00000290399.6 + 6 1292 c.679C>T c.(679-681)Ctg>Ttg p.L227L SIM2_ENST00000430056.3_Silent_p.L227L NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 227 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 CGAGATCAAGCTGTACAGTAA 0.567000 7 40 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75190013 75190013 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:75190013C>T ENST00000352410.4 + 8 1281 c.1214C>T c.(1213-1215)tCa>tTa p.S405L MPI_ENST00000323744.6_Missense_Mutation_p.S344L|MPI_ENST00000566377.1_3'UTR|MPI_ENST00000563786.1_Missense_Mutation_p.S385L|MPI_ENST00000535694.1_Missense_Mutation_p.S355L P34949 MPI_HUMAN mannose phosphate isomerase 405 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GAGAGTGTCTCACTGAAGCTT 0.562000 4 46 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86273898 86273898 + Silent SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:86273898T>A ENST00000394518.2 + 30 7337 c.7242T>A c.(7240-7242)gcT>gcA p.A2414A AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.A2418A|AKAP13_ENST00000394510.2_Silent_p.A659A NM_001270546.1|NM_007200.4 NP_001257475.1|NP_009131.2 Q12802 AKP13_HUMAN A kinase (PRKA) anchor protein 13 2414 Interaction with ESR1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CAGAAGAGGCTCTCAAAGGAG 0.478000 OREG0023425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 73 0 0 1 0 0 GNA13 10672 broad.mit.edu 37 17 63010911 63010911 + Missense_Mutation SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:63010911T>C ENST00000439174.2 - 4 843 c.598A>G c.(598-600)Aga>Gga p.R200G GNA13_ENST00000541118.1_Missense_Mutation_p.R105G NM_006572.4 NP_006563.2 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), alpha 13 200 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1) 34 GTGGGTCTTCTGGCAAGCAGA 0.353000 19 49 0 0 1 0 0 GLTPD1 80772 broad.mit.edu 37 1 1262843 1262843 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:1262843G>A ENST00000343938.4 + 3 756 c.345G>A c.(343-345)ctG>ctA p.L115L GLTPD1_ENST00000464957.1_3'UTR NM_001029885.1 NP_001025056.1 Q5TA50 GLTD1_HUMAN glycolipid transfer protein domain containing 1 115 cytoplasm glycolipid binding|glycolipid transporter activity lung(1) 1 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACCGCGCCCTGCACTGGCTGC 0.726000 3 10 0 0 1 0 0 FRY 10129 broad.mit.edu 37 13 32841467 32841467 + Missense_Mutation SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:32841467A>C ENST00000380250.3 + 55 8603 c.8107A>C c.(8107-8109)Aca>Cca p.T2703P FRY_ENST00000542859.1_Missense_Mutation_p.T73P NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 2703 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGCTGTGTATACATTTCATGT 0.512000 8 58 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66963856 66963856 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:66963856G>C ENST00000276570.5 + 3 361 c.74G>C c.(73-75)gGt>gCt p.G25A DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 25 J. protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) GAAATTCTTGGTCTGCATAAG 0.398000 14 78 0 0 1 0 0 NIPSNAP1 8508 broad.mit.edu 37 22 29966393 29966393 + Splice_Site SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:29966393C>A ENST00000216121.7 - 2 481 c.e2+1 NM_001202502.1|NM_003634.3 NP_001189431.1|NP_003625.2 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 (C. elegans) p.?(1) large_intestine(2)|lung(2)|skin(1) 5 CAGCCACTCACACTGGATCTT 0.567000 7 36 0.000157383 0.00016796 1 1 0 KMT2D 8085 broad.mit.edu 37 12 49444981 49444981 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:49444981C>G ENST00000301067.7 - 10 2484 c.2485G>C c.(2485-2487)Gag>Cag p.E829Q NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D TGTGATTCCTCAGGTTGGGGG 0.632000 11 49 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49666126 49666126 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:49666126G>A ENST00000339139.4 - 7 602 c.366C>T c.(364-366)gtC>gtT p.V122V NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3 NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 122 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CTACACCATAGACAAAATCTA 0.413000 11 69 0 0 1 0 0 CCDC9 26093 broad.mit.edu 37 19 47773894 47773894 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:47773894G>C ENST00000221922.6 + 10 1256 c.1034G>C c.(1033-1035)aGa>aCa p.R345T NM_015603.2 NP_056418.1 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 345 Poly-Arg. endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) AGCAGCCGCAGAAGGAGAAAG 0.672000 5 49 0 0 1 0 0 A4GNT 51146 broad.mit.edu 37 3 137843555 137843555 + Missense_Mutation SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:137843555T>A ENST00000236709.3 - 3 775 c.574A>T c.(574-576)Aat>Tat p.N192Y NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 192 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 AATATTCCATTACTAGAGTAC 0.498000 8 89 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89391184 89391184 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:89391184G>A ENST00000439576.2 + 9 2021 c.1647G>A c.(1645-1647)aaG>aaA p.K549K ACAN_ENST00000561243.1_Silent_p.K549K|ACAN_ENST00000558207.1_Silent_p.K549K|ACAN_ENST00000352105.7_Silent_p.K549K|ACAN_ENST00000559004.1_Silent_p.K549K NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 549 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGGGTGACAAGGACAGCAGCC 0.572000 9 72 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57335683 57335683 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:57335683C>G ENST00000326441.9 - 4 704 c.341G>C c.(340-342)tGt>tCt p.C114S PEG3_ENST00000423103.2_Missense_Mutation_p.C114S|PEG3_ENST00000593695.1_5'UTR|PEG3_ENST00000598410.1_5'UTR|ZIM2_ENST00000601070.1_5'UTR|PEG3_ENST00000594706.1_5'UTR|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000221722.5_5'UTR|ZIM2_ENST00000593711.1_5'UTR|ZIM2_ENST00000391708.3_5'UTR NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 114 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GAGCTTCTCACAGTTCTCCGG 0.532000 7 94 0 0 1 0 0 TRAF3IP1 26146 broad.mit.edu 37 2 239234477 239234477 + Nonsense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:239234477C>T ENST00000373327.4 + 3 442 c.220C>T c.(220-222)Caa>Taa p.Q74* TRAF3IP1_ENST00000391994.2_Nonsense_Mutation_p.Q74*|TRAF3IP1_ENST00000391993.3_Nonsense_Mutation_p.Q74* NM_015650.3 NP_056465.2 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting protein 1 74 Abolishes microtubules-binding when missing. cytoplasm|cytoskeleton protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2) 23 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) TAGCTTCCTACAAAAGGCCAT 0.423000 12 53 0 0 1 0 0 RNF113B 140432 broad.mit.edu 37 13 98828982 98828982 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:98828982C>T ENST00000267291.6 - 1 537 c.509G>A c.(508-510)gGg>gAg p.G170E FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron NM_178861.4 NP_849192.1 Q8IZP6 R113B_HUMAN ring finger protein 113B 170 nucleic acid binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CCTCGCCATCCCCGAGGAGGA 0.632000 7 30 0 0 1 0 0 TAF2 6873 broad.mit.edu 37 8 120790295 120790295 + Silent SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:120790295T>C ENST00000378164.2 - 18 2626 c.2328A>G c.(2326-2328)ttA>ttG p.L776L NM_003184.3 NP_003175 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 776 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGATTAAGTCTAAAATAAATG 0.264000 5 20 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111779715 111779715 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:111779715G>T ENST00000261726.6 + 21 3671 c.3517G>T c.(3517-3519)Gtg>Ttg p.V1173L NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 1173 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GAAGCCCCGGGTGGTGCTGGC 0.662000 12 58 5.16669e-11 6.01517e-11 1 1 0 TTI1 9675 broad.mit.edu 37 20 36641207 36641207 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:36641207C>A ENST00000373448.2 - 3 1250 c.1012G>T c.(1012-1014)Gga>Tga p.G338* TTI1_ENST00000449821.1_Nonsense_Mutation_p.G338*|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Nonsense_Mutation_p.G338* NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 338 binding breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 TTTACTAGTCCCACTAAGGCC 0.468000 28 170 4.22769e-11 4.95102e-11 1 1 0 BCL9 607 broad.mit.edu 37 1 147090920 147090920 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:147090920G>A ENST00000234739.3 + 8 1699 c.959G>A c.(958-960)gGg>gAg p.G320E NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 320 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GTCTCCCAGGGGAGCAATAGC 0.607000 T """IGH@, IGL@""" B-ALL 7 93 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138414501 138414501 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:138414501G>T ENST00000409968.1 + 23 4419 c.4241G>T c.(4240-4242)aGc>aTc p.S1414I THSD7B_ENST00000272643.3_Missense_Mutation_p.S1417I|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.S1386I thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) AACCAAGACAGCTGCCCCCAA 0.433000 21 91 3.83957e-06 4.22246e-06 1 1 0 C17orf77 146723 broad.mit.edu 37 17 72588357 72588357 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:72588357C>A ENST00000392620.1 + 3 534 c.172C>A c.(172-174)Cct>Act p.P58T CD300LD_ENST00000375352.1_5'UTR|C17orf77_ENST00000328023.2_Missense_Mutation_p.P58T NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 58 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 TGTCTCCTCTCCTCTCCTTGG 0.547000 11 52 2.35188e-11 2.77061e-11 1 1 0 CCL27 10850 broad.mit.edu 37 9 34662358 34662358 + Silent SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:34662358G>C ENST00000259631.4 - 2 184 c.126C>G c.(124-126)ctC>ctG p.L42L RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR NM_006664.2 NP_006655.1 Q9Y4X3 CCL27_HUMAN chemokine (C-C motif) ligand 27 42 cell-cell signaling|chemotaxis|immune response extracellular space chemokine activity kidney(1)|large_intestine(3)|ovary(1) 5 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) GCTTGTCTGAGAGTGGCTTTC 0.577000 9 27 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23904689 23904689 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:23904689G>T ENST00000382298.3 - 10 13914 c.13326C>A c.(13324-13326)ggC>ggA p.G4442G SACS_ENST00000382292.3_Silent_p.G4442G|SACS_ENST00000402364.1_Silent_p.G3692G NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 4442 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) CCACTGGATTGCCAACCGACT 0.468000 29 112 3.90053e-15 4.66418e-15 1 1 0 MFRP 83552 broad.mit.edu 37 11 119216324 119216324 + Silent SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:119216324A>C ENST00000555262.1 - 5 606 c.447T>G c.(445-447)tcT>tcG p.S149S MFRP_ENST00000529147.1_5'UTR|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000530681.1_Silent_p.S149S|MFRP_ENST00000360167.4_Silent_p.S149S|MFRP_ENST00000449574.2_Silent_p.S149S NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CCCTTGGGCCAGAGAGGAGGC 0.572000 8 45 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52400859 52400859 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:52400859G>T ENST00000420323.2 + 36 5982 c.5721G>T c.(5719-5721)acG>acT p.T1907T NM_015512.4 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1907 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGTCCATCACGATGGGCCAGC 0.607000 9 59 5.16669e-11 6.01517e-11 1 1 0 ATXN3 4287 broad.mit.edu 37 14 92537344 92537344 + Nonsense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:92537344G>T ENST00000545170.1 - 10 1021 c.953C>A c.(952-954)tCa>tAa p.S318* ATXN3_ENST00000502250.1_Nonsense_Mutation_p.S130*|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000503767.1_Nonsense_Mutation_p.S294*|ATXN3_ENST00000429774.2_Nonsense_Mutation_p.S302*|ATXN3_ENST00000393287.5_Nonsense_Mutation_p.S309*|ATXN3_ENST00000532032.1_Nonsense_Mutation_p.S309*|ATXN3_ENST00000340660.6_Nonsense_Mutation_p.S254* 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 3 309 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) ACTCTGTCCTGATAGGTCCCC 0.468000 32 39 2.47511e-08 2.82361e-08 1 1 0 NPAP1 23742 broad.mit.edu 37 15 24922473 24922473 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:24922473G>T ENST00000329468.2 + 1 1933 c.1459G>T c.(1459-1461)Gtc>Ttc p.V487F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 TTATAATTCAGTCGTAGGAGC 0.507000 21 167 8.34094e-07 9.27549e-07 1 1 0 MRM1 79922 broad.mit.edu 37 17 34958603 34958603 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:34958603G>C ENST00000250156.7 + 1 603 c.364G>C c.(364-366)Gag>Cag p.E122Q MRM1_ENST00000585770.1_5'UTR NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 122 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TGTCTGCATGGAGGTGAGCCC 0.682000 3 35 0 0 1 0 0 ALDOB 229 broad.mit.edu 37 9 104189883 104189883 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:104189883C>A ENST00000374855.4 - 5 545 c.421G>T c.(421-423)Gat>Tat p.D141Y ALDOB_ENST00000468981.3_Intron NM_000035.3 NP_000026.2 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 141 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1) 24 Acute lymphoblastic leukemia(62;0.0559) TCAACACCATCTTTCTTGTAC 0.537000 4 54 0.150653 0.151801 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48312668 48312668 + Silent SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:48312668C>A ENST00000435803.1 + 17 3429 c.3405C>A c.(3403-3405)gtC>gtA p.V1135V NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 1135 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 CAGCAAATGTCAGTGTGTTCA 0.353000 12 27 1.08611e-07 1.22496e-07 1 1 0 PRR14 78994 broad.mit.edu 37 16 30665636 30665636 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr16:30665636G>C ENST00000542965.2 + 6 1090 c.634G>C c.(634-636)Gac>Cac p.D212H PRR14_ENST00000300835.4_Missense_Mutation_p.D212H Q9BWN1 PRR14_HUMAN proline rich 14 212 Pro-rich. breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 18 Colorectal(24;0.103) TCTGCCTGCAGACCCTCTGGA 0.577000 40 128 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214185050 214185050 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:214185050G>A ENST00000366958.4 + 4 2628 c.2020G>A c.(2020-2022)Gac>Aac p.D674N PROX1_ENST00000435016.1_Missense_Mutation_p.D674N|PROX1_ENST00000498508.2_Missense_Mutation_p.D674N|PROX1_ENST00000261454.4_Missense_Mutation_p.D674N NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 674 Prospero-like. aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TAAAGCAAATGACTTTGAGGT 0.368000 46 60 0 0 1 0 0 AHSG 197 broad.mit.edu 37 3 186335076 186335076 + Silent SNP C C T rs78152999 byFrequency TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:186335076C>T ENST00000411641.2 + 4 729 c.510C>T c.(508-510)gcC>gcT p.A170A AHSG_ENST00000273784.5_Silent_p.A171A P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 170 Cystatin fetuin-A-type 2. PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649). acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1) 22 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CCCTGGCCGCCTTCAACGCTC 0.592000 OREG0015968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 83 0 0 1 0 0 INTS6 26512 broad.mit.edu 37 13 51950240 51950240 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:51950240C>G ENST00000311234.4 - 13 2145 c.1673G>C c.(1672-1674)aGa>aCa p.R558T INTS6_ENST00000490542.1_Missense_Mutation_p.R242T|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000497989.1_Missense_Mutation_p.R380T|INTS6_ENST00000398119.2_Missense_Mutation_p.R545T|INTS6_ENST00000425000.1_Missense_Mutation_p.R126T NM_012141.2 NP_036273.1 Q9UL03 INT6_HUMAN integrator complex subunit 6 558 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) AGATCTCATTCTTGTTAAGTG 0.323000 13 28 0 0 1 0 0 PEX19 5824 broad.mit.edu 37 1 160253381 160253381 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:160253381G>A ENST00000368072.5 - 2 140 c.119C>T c.(118-120)tCt>tTt p.S40F PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000556710.1_Intron|PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000608310.1_Intron NM_001193644.1|NM_002857.3 NP_001180573.1|NP_002848.1 peroxisomal biogenesis factor 19 cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2) 11 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CGTGGTGGTAGAAGGGGGTGC 0.547000 11 40 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203188877 203188877 + Nonsense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:203188877G>T ENST00000367229.1 - 8 864 c.830C>A c.(829-831)tCa>tAa p.S277* CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Nonsense_Mutation_p.S258*|CHIT1_ENST00000535569.1_Nonsense_Mutation_p.S268* NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 277 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 TCTGGTGTCTGATGAGGAGGC 0.597000 11 54 0.000673444 0.000707294 1 1 0 MCF2L2 23101 broad.mit.edu 37 3 183029466 183029466 + Missense_Mutation SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:183029466T>A ENST00000328913.3 - 8 1145 c.848A>T c.(847-849)aAc>aTc p.N283I MCF2L2_ENST00000447025.2_Missense_Mutation_p.N283I|MCF2L2_ENST00000473233.1_Missense_Mutation_p.N283I|MCF2L2_ENST00000414362.2_Missense_Mutation_p.N283I NM_015078.2 NP_055893 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 283 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CTCAAGTTGGTTGAGATTGAG 0.438000 35 72 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25168432 25168432 + RNA SNP T T C rs149337771 by1000genomes TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:25168432T>C ENST00000453498.1 + 0 1104 TPTE2P6_ENST00000440905.1_RNA TTGAAACAGCTGGTGTATTAA 0.373000 4 24 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36301505 36301505 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:36301505G>A ENST00000373210.3 + 13 1880 c.1635G>A c.(1633-1635)gtG>gtA p.V545V NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 AAAATGTAGTGAAGACCTCAC 0.388000 9 67 0 0 1 0 0 DFNB59 494513 broad.mit.edu 37 2 179323266 179323266 + Silent SNP G G A rs138967124 by1000genomes TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:179323266G>A ENST00000409117.3 + 5 935 c.579G>A c.(577-579)aaG>aaA p.K193K DFNB59_ENST00000605419.1_3'UTR|DFNB59_ENST00000375129.4_Silent_p.K193K NM_001042702.3 NP_001036167.1 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 193 sensory perception of sound breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AGAATCCCAAGGGAAGGGACA 0.353000 9 81 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19339266 19339266 + Nonsense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:19339266C>G ENST00000252575.6 + 8 2936 c.2837C>G c.(2836-2838)tCa>tGa p.S946* NCAN_ENST00000538881.1_Nonsense_Mutation_p.S397* NM_004386.2 NP_004377.2 O14594 NCAN_HUMAN neurocan axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) TCAGTTTCCTCAGGGGAGCCT 0.647000 16 131 0 0 1 0 0 ACY3 91703 broad.mit.edu 37 11 67412565 67412565 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:67412565C>G ENST00000255082.3 - 6 755 c.585G>C c.(583-585)atG>atC p.M195I ACY3_ENST00000529256.1_Missense_Mutation_p.M74I NM_080658.1 NP_542389.1 Q96HD9 ACY3_HUMAN aspartoacylase (aminocyclase) 3 195 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding endometrium(1)|lung(5)|prostate(2) 8 L-Aspartic Acid(DB00128) CCAGGGTCCTCATCCTTGAGA 0.612000 32 98 0 0 1 0 0 DDX20 11218 broad.mit.edu 37 1 112308496 112308496 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:112308496C>G ENST00000475700.1 + 3 2632 c.274C>G c.(274-276)Caa>Gaa p.Q92E DDX20_ENST00000369702.4_Missense_Mutation_p.Q484E Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 484 assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1) 21 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGAACCCTTCAAATTCAGAA 0.368000 10 78 0 0 1 0 0 ZNF37A 7587 broad.mit.edu 37 10 38407718 38407718 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:38407718G>C ENST00000361085.5 + 7 1984 c.1639G>C c.(1639-1641)Ggg>Cgg p.G547R ZNF37A_ENST00000351773.3_Missense_Mutation_p.G547R NM_001178101.1|NM_003421.2 NP_001171572.1|NP_003412.1 P17032 ZN37A_HUMAN zinc finger protein 37A nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 AATACACTTGGGGAGAAACCC 0.363000 9 38 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18393456 18393456 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:18393456C>A ENST00000440756.2 - 16 3049 c.2947G>T c.(2947-2949)Gaa>Taa p.E983* PSD3_ENST00000428502.2_Nonsense_Mutation_p.E310*|PSD3_ENST00000327040.8_Nonsense_Mutation_p.E981*|PSD3_ENST00000523619.1_Nonsense_Mutation_p.E916*|PSD3_ENST00000286485.8_Nonsense_Mutation_p.E447* Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 982 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ACATACATTTCATAGCGGGTT 0.483000 10 38 0.000673444 0.000707294 1 1 0 FEM1A 55527 broad.mit.edu 37 19 4793724 4793724 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:4793724C>A ENST00000269856.3 + 1 1997 c.1858C>A c.(1858-1860)Ctg>Atg p.L620M AC005523.2_ENST00000601192.1_RNA NM_018708.2 NP_061178.1 Q9BSK4 FEM1A_HUMAN fem-1 homolog a (C. elegans) 620 regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity p.L620M(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 17 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GGCCTACGAGCTGCTGGACGA 0.607000 3 25 1 1 1 1 0 SELENBP1 8991 broad.mit.edu 37 1 151337485 151337485 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:151337485C>G ENST00000426705.2 - 11 1443 c.1299G>C c.(1297-1299)caG>caC p.Q433H SELENBP1_ENST00000368868.5_Missense_Mutation_p.Q391H|SELENBP1_ENST00000435071.1_Missense_Mutation_p.Q327H|SELENBP1_ENST00000447402.3_Missense_Mutation_p.Q329H NM_001258289.1 NP_001245218.1 Q13228 SBP1_HUMAN selenium binding protein 1 391 protein transport cytosol|membrane|nucleolus protein binding|selenium binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCAGGCTGAGCTGGATCATCT 0.567000 3 7 0 0 1 0 0 IL13RA1 3597 broad.mit.edu 37 X 117892057 117892057 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:117892057C>T ENST00000371666.3 + 5 595 c.528C>T c.(526-528)atC>atT p.I176I IL13RA1_ENST00000481868.1_3'UTR|IL13RA1_ENST00000371642.1_Silent_p.I176I NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 176 interleukin-13 receptor complex cytokine receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 GTGAAAACATCTTTAGAGAAG 0.348000 18 46 0 0 1 0 0 HIST2H3D 653604 broad.mit.edu 37 1 149785202 149785202 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:149785202G>T ENST00000331491.1 - 1 34 c.35C>A c.(34-36)aCc>aAc p.T12N NM_001123375.2 NP_001116847.1 Q71DI3 H32_HUMAN histone cluster 2, H3d 12 blood coagulation|nucleosome assembly nucleoplasm|nucleosome DNA binding|protein binding biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3) 7 CTTGCCGCCGGTCGACTTGCG 0.627000 4 40 0.184627 0.185094 1 1 0 UCKL1 54963 broad.mit.edu 37 20 62575994 62575994 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:62575994C>T ENST00000369908.5 - 6 1002 c.703G>A c.(703-705)Gag>Aag p.E235K UCKL1_ENST00000358711.3_Missense_Mutation_p.E250K|UCKL1_ENST00000354216.6_Missense_Mutation_p.E250K|UCKL1_ENST00000369892.3_Missense_Mutation_p.E250K NM_001193379.1 NP_001180308.1 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 250 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) ATGACACCCTCGATGTCCCGG 0.602000 6 29 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14037643 14037643 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:14037643C>G ENST00000318003.7 + 20 2324 c.2083C>G c.(2083-2085)Cag>Gag p.Q695E CC2D1A_ENST00000589606.1_Missense_Mutation_p.Q695E NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 695 C2. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGAAGAAGCTCAGAAAGACAA 0.587000 14 46 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186045614 186045614 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:186045614G>T ENST00000271588.4 + 54 8574 c.8345G>T c.(8344-8346)aGg>aTg p.R2782M HMCN1_ENST00000367492.2_Missense_Mutation_p.R2782M NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2782 Ig-like C2-type 26. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GATACTGGCAGGAATGGTGAA 0.413000 5 85 1.23904e-05 1.34399e-05 1 1 0 DDX4 54514 broad.mit.edu 37 5 55076907 55076907 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:55076907C>A ENST00000505374.1 + 9 602 c.510C>A c.(508-510)gaC>gaA p.D170E DDX4_ENST00000353507.5_Missense_Mutation_p.D136E|DDX4_ENST00000354991.5_Missense_Mutation_p.D136E|DDX4_ENST00000511853.1_Missense_Mutation_p.D37E|DDX4_ENST00000514278.2_Missense_Mutation_p.D150E NM_024415.2 NP_077726.1 Q9NQI0 DDX4_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 170 Gly-rich. multicellular organismal development|sperm motility perinuclear region of cytoplasm|pi-body|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 24 Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223) ATGACTTAGACCCAGACGAAT 0.333000 6 38 0.0293803 0.0299077 1 1 0 OSBPL11 114885 broad.mit.edu 37 3 125250824 125250824 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:125250824C>T ENST00000296220.5 - 12 2348 c.2059G>A c.(2059-2061)Gaa>Aaa p.E687K NM_022776.4 NP_073613.2 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 687 lipid transport lipid binding NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 27 ATTTCAGATTCTCTCAGCGAG 0.393000 16 72 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99491937 99491937 + Splice_Site SNP T T G rs45504297 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:99491937T>G ENST00000268035.6 + 20 4333 c.3722T>G c.(3721-3723)cTg>cGg p.L1241R IGF1R_ENST00000558762.1_Splice_Site_p.L1240R NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 1241 Protein kinase. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CCTGACATGCTGTACGTACTT 0.537000 7 71 0 0 1 0 0 ZNF709 163051 broad.mit.edu 37 19 12595589 12595589 + Translation_Start_Site SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:12595589G>T ENST00000397732.3 - 0 54 CTD-3105H18.18_ENST00000598753.1_De_novo_Start_OutOfFrame|ZNF709_ENST00000428311.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 GGAGACCCCAGAGCGGAGCGC 0.682000 3 17 0.004672 0.00484278 1 1 0 CHML 1122 broad.mit.edu 37 1 241798263 241798263 + Missense_Mutation SNP C C T rs148967774 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:241798263C>T ENST00000366553.1 - 1 969 c.806G>A c.(805-807)cGg>cAg p.R269Q OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron NM_001821.3 NP_001812.2 P26374 RAE2_HUMAN choroideremia-like (Rab escort protein 2) 269 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1) 26 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CTTTCCTTCCCGAAATGCAAG 0.353000 15 68 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161928235 161928235 + Splice_Site SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:161928235G>A ENST00000367942.3 + 16 1871 c.e16-1 NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) CCTGTCTGCAGAGAATGTGAT 0.433000 7 90 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150901299 150901299 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:150901299C>A ENST00000261800.5 - 18 10867 c.10855G>T c.(10855-10857)Gtg>Ttg p.V3619L NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 3619 Cadherin 32. 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) ACATGCCACACGTACACATGG 0.627000 5 28 0.000602214 0.000635849 1 1 0 RIN2 54453 broad.mit.edu 37 20 19977359 19977359 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:19977359C>G ENST00000255006.6 + 11 2533 c.2384C>G c.(2383-2385)tCt>tGt p.S795C RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.S313C NM_001242581.1|NM_018993.3 NP_001229510.1|NP_061866.1 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 746 Ras-associating. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 27 GGAGCACTTTCTCTGATAAAG 0.527000 5 28 0 0 1 0 0 ELANE 1991 broad.mit.edu 37 19 855684 855684 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:855684C>T ENST00000590230.1 + 5 628 c.487C>T c.(487-489)Cgt>Tgt p.R163C ELANE_ENST00000263621.1_Missense_Mutation_p.R163C P08246 ELNE_HUMAN elastase, neutrophil expressed 163 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1) 13 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) GGGCAGGAACCGTGGGATCGC 0.706000 10 50 0 0 1 0 0 C17orf77 146723 broad.mit.edu 37 17 72588358 72588358 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:72588358C>G ENST00000392620.1 + 3 535 c.173C>G c.(172-174)cCt>cGt p.P58R CD300LD_ENST00000375352.1_5'UTR|C17orf77_ENST00000328023.2_Missense_Mutation_p.P58R NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 58 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 GTCTCCTCTCCTCTCCTTGGT 0.547000 11 53 0 0 1 0 0 OR7C1 26664 broad.mit.edu 37 19 14910225 14910225 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:14910225C>T ENST00000248073.2 - 1 798 c.724G>A c.(724-726)Ggt>Agt p.G242S OR7A5_ENST00000601611.1_Intron NM_198944.1 NP_945182.1 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, member 1 242 sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1) 18 AGGTGGGAACCACAGGTGGAA 0.463000 9 78 0 0 1 0 0 LY9 4063 broad.mit.edu 37 1 160769632 160769632 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:160769632G>A ENST00000368037.5 + 2 328 c.214G>A c.(214-216)Gac>Aac p.D72N LY9_ENST00000392203.4_Missense_Mutation_p.D72N|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368039.2_Missense_Mutation_p.D72N|LY9_ENST00000368041.2_Missense_Mutation_p.D32N|LY9_ENST00000341032.4_Missense_Mutation_p.D72N|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000263285.6_Missense_Mutation_p.D72N NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CATCTCAGTAGACACAGAGAT 0.493000 10 77 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177713384 177713384 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr4:177713384C>G ENST00000280193.2 - 1 497 c.82G>C c.(82-84)Gcc>Ccc p.A28P NM_005429.2 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 28 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) gcggcggcggcggcgggcgcc 0.706000 3 14 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27389109 27389109 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:27389109C>G ENST00000376087.4 - 1 312 c.147G>C c.(145-147)aaG>aaC p.K49N ANKRD26_ENST00000436985.2_Missense_Mutation_p.K49N NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 49 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 CTTTGTGGATCTTGCCGAGAT 0.622000 32 76 0 0 1 0 0 ASAP2 8853 broad.mit.edu 37 2 9475228 9475228 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:9475228C>G ENST00000281419.3 + 9 1109 c.769C>G c.(769-771)Cag>Gag p.Q257E ASAP2_ENST00000315273.4_Missense_Mutation_p.Q257E NM_003887.2 NP_003878.1 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 257 regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 36 AAAGATCAAACAGGCCCAGGA 0.413000 9 40 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79974283 79974283 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:79974283G>C ENST00000360280.3 + 58 8330 c.8070G>C c.(8068-8070)atG>atC p.M2690I VPS13A_ENST00000357409.5_Missense_Mutation_p.M2690I|VPS13A_ENST00000376636.3_Missense_Mutation_p.M2651I|VPS13A_ENST00000376634.4_Missense_Mutation_p.M2690I NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2690 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GTATTGTCATGAGATCTGCAG 0.308000 4 21 0 0 1 0 0 OR8B4 283162 broad.mit.edu 37 11 124294104 124294104 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:124294104A>G ENST00000356130.3 - 1 685 c.664T>C c.(664-666)Tcc>Ccc p.S222P NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGGATGTTGGAGAGTATCAAA 0.468000 14 29 0 0 1 0 0 LAMP5 24141 broad.mit.edu 37 20 9496203 9496203 + Silent SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:9496203G>C ENST00000246070.2 + 2 660 c.168G>C c.(166-168)acG>acC p.T56T LAMP5_ENST00000427562.2_Silent_p.T56T NM_012261.3 NP_036393.1 Q9UJQ1 CT103_HUMAN lysosomal-associated membrane protein family, member 5 56 integral to membrane ATGGGACGACGTGTCTCATGG 0.458000 12 112 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83834892 83834892 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:83834892G>C ENST00000349129.2 + 14 1723 c.1463G>C c.(1462-1464)aGa>aCa p.R488T DOPEY1_ENST00000369739.3_Missense_Mutation_p.R479T|DOPEY1_ENST00000237163.5_Intron NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 488 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AAGCCTACTAGAAGTATGAGG 0.289000 4 34 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35591979 35591979 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:35591979C>G ENST00000353139.5 - 25 3638 c.3157G>C c.(3157-3159)Gag>Cag p.E1053Q ACACA_ENST00000335166.5_Missense_Mutation_p.E938Q|ACACA_ENST00000360679.3_Missense_Mutation_p.E958Q|ACACA_ENST00000394406.2_Missense_Mutation_p.E1016Q NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1016 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTTTTATTCTCTTCTCGGAGG 0.398000 19 57 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46771875 46771875 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:46771875G>C ENST00000529230.1 - 42 5699 c.5653C>G c.(5653-5655)Cgg>Ggg p.R1885G CKAP5_ENST00000354558.3_Missense_Mutation_p.R1825G|CKAP5_ENST00000312055.5_Missense_Mutation_p.R1825G|CKAP5_ENST00000415402.1_Missense_Mutation_p.R1892G Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1885 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 TCAATCACCCGAAGGCCTCTT 0.413000 18 69 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116371801 116371801 + Missense_Mutation SNP T T G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:116371801T>G ENST00000397752.3 + 3 1480 c.1280T>G c.(1279-1281)gTt>gGt p.V427G MET_ENST00000436117.2_Missense_Mutation_p.V427G|MET_ENST00000318493.6_Missense_Mutation_p.V427G|MET_ENST00000495962.1_3'UTR NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 427 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTGCAGCGCGTTGACTTATTC 0.433000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 5 42 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44051155 44051155 + Silent SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:44051155G>C ENST00000543989.1 - 5 1741 c.36C>G c.(34-36)gtC>gtG p.V12V ABCG5_ENST00000260645.1_Silent_p.V407V|ABCG5_ENST00000405322.1_Silent_p.V236V Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 407 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CATTGCTTCGGACCCGCAGAA 0.512000 17 51 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30833434 30833434 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:30833434G>C ENST00000256079.4 - 5 959 c.621C>G c.(619-621)atC>atG p.I207M NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 207 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GTGCATAAAAGATTTTCAGAA 0.378000 9 56 0 0 1 0 0 MYBPC2 4606 broad.mit.edu 37 19 50947074 50947074 + Splice_Site SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:50947074G>A ENST00000357701.5 + 11 1184 c.e11+1 NM_004533.3 NP_004524.3 Q14324 MYPC2_HUMAN myosin binding protein C, fast type cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) AGGTGATGTGGTAAGTGACCC 0.512000 50 61 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61832871 61832871 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:61832871C>T ENST00000280772.2 - 37 7959 c.7768G>A c.(7768-7770)Gaa>Aaa p.E2590K ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TGTGACACTTCAGTCAGTTTT 0.418000 28 81 0 0 1 0 0 MTSS1 9788 broad.mit.edu 37 8 125577982 125577982 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:125577982C>T ENST00000518547.1 - 9 1218 c.745G>A c.(745-747)Ggt>Agt p.G249S MTSS1_ENST00000524090.1_Missense_Mutation_p.G139S|MTSS1_ENST00000431961.2_Missense_Mutation_p.G49S|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000378017.3_Missense_Mutation_p.G249S|MTSS1_ENST00000354184.4_Missense_Mutation_p.G49S|MTSS1_ENST00000325064.5_Missense_Mutation_p.G253S NM_001282971.1|NM_014751.4 NP_001269900.1|NP_055566.3 O43312 MTSS1_HUMAN metastasis suppressor 1 249 IMD.|Ser-rich. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 37 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TAATCAGAACCTTTCAAGTCC 0.542000 3 31 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166896082 166896082 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:166896082C>T ENST00000423058.2 - 14 2457 c.2440G>A c.(2440-2442)Gaa>Aaa p.E814K SCN1A_ENST00000409050.1_Missense_Mutation_p.E786K|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.E814K|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E803K|AC010127.3_ENST00000599041.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 814 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGAAACATTTCTGCTGTAAAG 0.333000 5 19 0 0 1 0 0 FBXO31 79791 broad.mit.edu 37 16 87367589 87367589 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr16:87367589C>A ENST00000311635.7 - 8 1312 c.1300G>T c.(1300-1302)Gcc>Tcc p.A434S RP11-178L8.4_ENST00000568879.1_Silent_p.R97R NM_001282683.1|NM_024735.3 NP_001269612.1|NP_079011.3 Q5XUX0 FBX31_HUMAN F-box protein 31 434 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(80;0.0272) GGCTGCTCGGCCGCAGCTACG 0.692000 3 29 0.115264 0.116437 1 1 0 DLGAP4 22839 broad.mit.edu 37 20 35064619 35064619 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:35064619C>T ENST00000373913.3 + 4 1587 c.1107C>T c.(1105-1107)taC>taT p.Y369Y DLGAP4_ENST00000373907.2_Silent_p.Y369Y|DLGAP4_ENST00000401952.2_Silent_p.Y369Y|DLGAP4_ENST00000339266.5_Silent_p.Y369Y Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 369 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GCGGCAGCTACATCAAGGCCA 0.736000 3 11 0 0 1 0 0 TCP1 6950 broad.mit.edu 37 6 160205738 160205738 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:160205738G>A ENST00000321394.7 - 6 910 c.630C>T c.(628-630)ctC>ctT p.L210L TCP1_ENST00000420894.2_Silent_p.L210L|TCP1_ENST00000392168.2_Silent_p.L55L|TCP1_ENST00000544255.1_Intron NM_030752.2 NP_110379.2 P17987 TCPA_HUMAN t-complex 1 210 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1)|endometrium(4)|large_intestine(3)|lung(2) 10 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) AGCCACTGATGAGCATACTCT 0.413000 10 130 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41572563 41572563 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:41572563G>T ENST00000396942.1 - 15 1715 c.1632C>A c.(1630-1632)gcC>gcA p.A544A ANK1_ENST00000379758.2_Silent_p.A544A|ANK1_ENST00000396945.1_Silent_p.A544A|ANK1_ENST00000347528.4_Silent_p.A544A|ANK1_ENST00000289734.7_Silent_p.A544A|ANK1_ENST00000265709.8_Silent_p.A577A|ANK1_ENST00000352337.4_Silent_p.A544A P16157 ANK1_HUMAN ankyrin 1, erythrocytic 544 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCCCGTACTTGGCCGCCACGT 0.627000 4 55 0.000602214 0.000635849 1 1 0 TTN 7273 broad.mit.edu 37 2 179616411 179616411 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:179616411G>T ENST00000360870.5 - 46 10938 c.10716C>A c.(10714-10716)gaC>gaA p.D3572E TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3567 Ig-like 21. 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) CAGAATCTCTGTCTTGGACCC 0.403000 19 104 6.94344e-10 8.03658e-10 1 1 0 BABAM1 29086 broad.mit.edu 37 19 17382464 17382464 + Splice_Site SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:17382464G>C ENST00000359435.4 + 3 537 c.344G>C c.(343-345)gGc>gCc p.G115A CTD-2278I10.6_ENST00000596542.1_Intron|BABAM1_ENST00000601043.1_Splice_Site_p.G115A|BABAM1_ENST00000598188.1_Splice_Site_p.G115A|BABAM1_ENST00000447614.2_Splice_Site_p.G115A|BABAM1_ENST00000448635.2_3'UTR|BABAM1_ENST00000595632.1_Splice_Site_p.G115A NM_001033549.1 NP_001028721.1 Q9NWV8 BABA1_HUMAN BRISC and BRCA1 A complex member 1 115 VWFA-like. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation BRCA1-A complex|BRISC complex|cytoplasm protein binding p.G115V(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1) 5 TCGTTCAACGGGTAAGAGGGA 0.532000 3 18 0 0 1 0 0 ARPC4 10093 broad.mit.edu 37 3 9845628 9845628 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:9845628G>C ENST00000397261.3 + 5 996 c.432G>C c.(430-432)aaG>aaC p.K144N ARPC4-TTLL3_ENST00000397256.1_Intron|ARPC4_ENST00000498623.2_Missense_Mutation_p.K54N|ARPC4_ENST00000287613.7_Missense_Mutation_p.K54N|ARPC4_ENST00000433034.1_Missense_Mutation_p.K163N NM_005718.4 NP_005709.1 actin related protein 2/3 complex, subunit 4, 20kDa breast(1)|lung(1) 2 Medulloblastoma(99;0.227) AGATTGACAAGGAGATCAGTG 0.468000 14 122 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74856157 74856157 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:74856157G>A ENST00000358399.3 + 11 1171 c.1078G>A c.(1078-1080)Gag>Aag p.E360K GDA_ENST00000545168.1_Missense_Mutation_p.E286K|GDA_ENST00000376989.3_Missense_Mutation_p.E299K|GDA_ENST00000376986.1_Missense_Mutation_p.E282K|GDA_ENST00000238018.4_Missense_Mutation_p.E360K NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 360 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TAAGGTAAATGAGAAAAGCCT 0.403000 6 55 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70405499 70405499 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:70405499C>G ENST00000373644.4 + 4 3222 c.3013C>G c.(3013-3015)Ctt>Gtt p.L1005V NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 1005 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 TTCATTATCTCTTTTTATACC 0.338000 6 62 0 0 1 0 0 FAT1 2195 broad.mit.edu 37 4 187524560 187524560 + Nonsense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr4:187524560G>T ENST00000441802.2 - 19 11329 c.11120C>A c.(11119-11121)tCa>tAa p.S3707* NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3707 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TTGTTTTGTTGAGATCTGAGC 0.433000 HNSCC(5;0.00058) 10 28 1.58986e-06 1.75815e-06 1 1 0 CEACAM7 1087 broad.mit.edu 37 19 42192066 42192066 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:42192066C>G ENST00000006724.3 - 1 230 c.29G>C c.(28-30)aGa>aCa p.R10T CEACAM7_ENST00000401731.1_Missense_Mutation_p.R10T|CEACAM7_ENST00000338196.4_Missense_Mutation_p.R10T|CEACAM7_ENST00000602225.1_Missense_Mutation_p.R10T|CEACAM7_ENST00000599715.1_Intron NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 10 anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) AATGCACACTCTGTATGGACA 0.617000 14 44 0 0 1 0 0 DNM2 1785 broad.mit.edu 37 19 10883223 10883223 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:10883223G>A ENST00000314646.5 + 3 468 c.304G>A c.(304-306)Gaa>Aaa p.E102K DNM2_ENST00000585892.1_Missense_Mutation_p.E102K|DNM2_ENST00000355667.6_Missense_Mutation_p.E102K|DNM2_ENST00000389253.4_Missense_Mutation_p.E102K|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000359692.6_Missense_Mutation_p.E102K|DNM2_ENST00000408974.4_Missense_Mutation_p.E102K P50570 DYN2_HUMAN dynamin 2 102 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 42 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GCAGGAGATTGAAGCAGAGAC 0.522000 """F, N, Splice, Mis, O""" ETP ALL 13 90 0 0 1 0 0 HTN1 3346 broad.mit.edu 37 4 70920139 70920139 + Splice_Site SNP G G A rs78945345 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr4:70920139G>A ENST00000511674.1 + 4 145 c.74G>A c.(73-75)aGa>aAa p.R25K HTN1_ENST00000246896.3_Splice_Site_p.R25K P15515 HIS1_HUMAN histatin 1 25 biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding endometrium(1)|large_intestine(1)|lung(2)|skin(2) 6 ATTTCATAGAGACATCATGGG 0.289000 6 15 0 0 1 0 0 FBLN7 129804 broad.mit.edu 37 2 112944892 112944892 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:112944892G>T ENST00000331203.2 + 8 1400 c.1129G>T c.(1129-1131)Ggt>Tgt p.G377C FBLN7_ENST00000409450.3_Missense_Mutation_p.G331C|FBLN7_ENST00000409667.3_Missense_Mutation_p.G243C|FBLN7_ENST00000409903.1_Intron NM_001128165.1|NM_153214.2 NP_001121637.1|NP_694946.2 Q53RD9 FBLN7_HUMAN fibulin 7 377 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 TGGGATCGTGGGTGGGAACAG 0.642000 10 115 3.86212e-05 4.15518e-05 1 1 0 UNK 85451 broad.mit.edu 37 17 73780818 73780818 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:73780818G>A ENST00000293218.3 + 2 85 c.85G>A c.(85-87)Gaa>Aaa p.E29K H3F3B_ENST00000586607.1_Intron Q9C0B0 UNK_HUMAN unkempt family zinc finger 0 nucleic acid binding|zinc ion binding cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 25 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCGGACATAGAACCACAACT 0.637000 3 21 0 0 1 0 0 ARL13B 200894 broad.mit.edu 37 3 93699277 93699277 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:93699277C>G ENST00000303097.7 + 1 292 c.10C>G c.(10-12)Ctg>Gtg p.L4V ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000471138.1_Missense_Mutation_p.L4V|ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000394222.3_Missense_Mutation_p.L4V NM_144996.3 NP_659433.2 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 13B 4 GTP binding endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2) 10 GATGTTCAGTCTGATGGCCAG 0.692000 13 74 0 0 1 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120564 38120564 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:38120564C>G ENST00000406386.3 + 7 2256 c.2001C>G c.(1999-2001)atC>atG p.I667M NM_001039141.2 NP_001034230.1 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein 667 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) ACAGAACCATCCAACAAGAGA 0.572000 18 47 0 0 1 0 0 PAWR 5074 broad.mit.edu 37 12 79986470 79986470 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:79986470G>A ENST00000328827.4 - 7 1312 c.940C>T c.(940-942)Cta>Tta p.L314L NM_002583.2 NP_002574.2 Q96IZ0 PAWR_HUMAN PRKC, apoptosis, WT1, regulator 314 Leucine-zipper. actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 8 ATGTCATCTAGGTCCTTAAGA 0.299000 6 23 0 0 1 0 0 PES1 23481 broad.mit.edu 37 22 30980647 30980647 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:30980647G>C ENST00000402281.1 - 7 1000 c.9C>G c.(7-9)ttC>ttG p.F3L PES1_ENST00000354694.7_Missense_Mutation_p.F142L|PES1_ENST00000402284.3_Missense_Mutation_p.F142L|PES1_ENST00000335214.6_Missense_Mutation_p.F142L|PES1_ENST00000405677.1_Missense_Mutation_p.F3L NM_001282327.1 NP_001269256.1 O00541 PESC_HUMAN pescadillo ribosomal biogenesis factor 1 142 Required for 28S ribosomal RNA processing.|Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3) 29 TGGAAAACAGGAAGCACATGG 0.607000 4 27 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67578265 67578265 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr16:67578265C>T ENST00000540839.3 + 16 2941 c.2721C>T c.(2719-2721)ctC>ctT p.L907L FAM65A_ENST00000379312.3_Silent_p.L892L|FAM65A_ENST00000428437.2_Silent_p.L902L|FAM65A_ENST00000042381.4_Silent_p.L888L|FAM65A_ENST00000422602.2_Silent_p.L908L Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 892 cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CCCGCCCCCTCAGCACGGGGT 0.652000 28 73 0 0 1 0 0 GRIA2 2891 broad.mit.edu 37 4 158283999 158283999 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr4:158283999A>G ENST00000296526.7 + 15 2780 c.2455A>G c.(2455-2457)Atc>Gtc p.I819V GRIA2_ENST00000507898.1_Missense_Mutation_p.I772V|GRIA2_ENST00000393815.2_Missense_Mutation_p.I772V|GRIA2_ENST00000264426.9_Missense_Mutation_p.I819V|GRIA2_ENST00000449365.1_Missense_Mutation_p.I772V NM_000826.3 NP_000817 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 819 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AGTATTCTACATCCTTGTCGG 0.468000 7 51 0 0 1 0 0 WT1 7490 broad.mit.edu 37 11 32456366 32456366 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:32456366G>A ENST00000332351.3 - 1 810 c.526C>T c.(526-528)Cgc>Tgc p.R176C WT1_ENST00000448076.3_Missense_Mutation_p.R176C NM_024424.3|NM_024426.4 NP_077742.2|NP_077744 P19544 WT1_HUMAN Wilms tumor 1 108 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(234) NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1) 533 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GGCCCGTAGCGACAGGCTCCG 0.692000 """D, Mis, N, F, S""" EWSR1 """Wilms, desmoplastic small round cell tumor""" Wilms Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome 6 18 0 0 1 0 0 VSIG2 23584 broad.mit.edu 37 11 124621381 124621381 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:124621381C>A ENST00000403470.1 - 2 212 c.157G>T c.(157-159)Gac>Tac p.D53Y VSIG2_ENST00000326621.5_Missense_Mutation_p.D53Y Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 53 Ig-like V-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GCGAAGCTGTCTCCCACCGAC 0.637000 8 52 0.00448238 0.00467062 1 1 0 SMARCA1 6594 broad.mit.edu 37 X 128614761 128614761 + Nonsense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:128614761G>A ENST00000371122.4 - 19 2488 c.2359C>T c.(2359-2361)Cag>Tag p.Q787* SMARCA1_ENST00000371123.1_Nonsense_Mutation_p.Q775*|SMARCA1_ENST00000371121.3_Nonsense_Mutation_p.Q775* NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 787 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding p.Q787fs*25(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 TGAAAATCCTGAACATTTGGC 0.343000 13 12 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 786283 786283 + Nonsense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr16:786283G>C ENST00000540986.1 - 3 1551 c.116C>G c.(115-117)tCa>tGa p.S39* NARFL_ENST00000251588.2_Nonsense_Mutation_p.S141*|NARFL_ENST00000301694.5_Intron|NARFL_ENST00000568545.1_Nonsense_Mutation_p.S39* Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 141 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) TTTAAAGAATGAGGTTAATTT 0.522000 7 54 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118950282 118950282 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:118950282A>G ENST00000328252.3 + 2 1634 c.1265A>G c.(1264-1266)gAg>gGg p.E422G NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 422 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 ATTGGGGATGAGAACTGTGAC 0.627000 19 36 0 0 1 0 0 RPL6 6128 broad.mit.edu 37 12 112846122 112846122 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:112846122C>G ENST00000424576.2 - 3 443 c.258G>C c.(256-258)gaG>gaC p.E86D RPL6_ENST00000202773.9_Missense_Mutation_p.E86D NM_001024662.1 NP_001019833.1 Q02878 RL6_HUMAN ribosomal protein L6 86 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome cervix(1)|large_intestine(6)|lung(3) 10 CGAGAACCTTCTCCTTCTTTT 0.433000 15 97 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40052303 40052303 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:40052303C>T ENST00000373233.3 - 30 4561 c.4384G>A c.(4384-4386)Gtg>Atg p.V1462M NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1462 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) AAGGAAGACACTGTTCTATAG 0.408000 12 167 0 0 1 0 0 RAD51D 5892 broad.mit.edu 37 17 33427979 33427979 + Missense_Mutation SNP T T G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:33427979T>G ENST00000345365.6 - 10 1235 c.980A>C c.(979-981)cAg>cCg p.Q327P RAD51D_ENST00000590016.1_Missense_Mutation_p.Q347P|RAD51D_ENST00000394589.4_Missense_Mutation_p.Q327P|RAD51D_ENST00000360276.3_Missense_Mutation_p.Q282P|RAD51D_ENST00000460118.2_Missense_Mutation_p.Q208P|RAD51D_ENST00000590380.1_5'UTR|RAD51D_ENST00000335858.7_Missense_Mutation_p.Q215P|RAD51L3-RFFL_ENST00000593039.1_Intron NM_002878.3 NP_002869.3 O75771 RA51D_HUMAN RAD51 paralog D 327 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 AGGTCATGTCTGATCACCCTG 0.532000 Direct reversal of damage 16 61 0 0 1 0 0 NINL 22981 broad.mit.edu 37 20 25484683 25484683 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:25484683C>T ENST00000278886.6 - 7 839 c.766G>A c.(766-768)Gag>Aag p.E256K NINL_ENST00000422516.1_Missense_Mutation_p.E256K NM_025176.4 NP_079452.3 Q9Y2I6 NINL_HUMAN ninein-like 256 EF-hand 4. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 57 TGGAATTCCTCAAGACTCACT 0.498000 33 113 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75230761 75230761 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:75230761C>G ENST00000325680.7 + 1 693 c.569C>G c.(568-570)tCc>tGc p.S190C YLPM1_ENST00000552421.1_Missense_Mutation_p.S190C|YLPM1_ENST00000238571.3_Missense_Mutation_p.S190C NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 33 Pro-rich. 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) GCTCAGCCGTCCCCTTCGCAG 0.597000 8 42 0 0 1 0 0 ATP13A5 344905 broad.mit.edu 37 3 193007837 193007837 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:193007837G>C ENST00000342358.4 - 26 2977 c.2860C>G c.(2860-2862)Cat>Gat p.H954D ATP13A5_ENST00000495496.1_5'UTR NM_198505.2 NP_940907.2 Q4VNC0 AT135_HUMAN ATPase type 13A5 954 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GGGTAGGCATGAGTTGAACTC 0.383000 6 64 0 0 1 0 0 CHD6 84181 broad.mit.edu 37 20 40049171 40049171 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:40049171C>G ENST00000373233.3 - 31 6281 c.6104G>C c.(6103-6105)aGa>aCa p.R2035T NM_032221.3 NP_115597.3 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2035 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) GTTTCCGTCTCTATCATAATC 0.433000 18 89 0 0 1 0 0 ZNF502 91392 broad.mit.edu 37 3 44763523 44763523 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:44763523G>A ENST00000296091.4 + 4 1470 c.1214G>A c.(1213-1215)aGa>aAa p.R405K ZNF502_ENST00000436624.2_Missense_Mutation_p.R405K|ZNF502_ENST00000449836.1_Missense_Mutation_p.R405K NM_001134440.1|NM_001282880.1|NM_033210.4 NP_001127912.1|NP_001269809.1|NP_149987.2 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) ACAGGGGAGAGACCCTACAAA 0.413000 16 30 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 56138648 56138648 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:56138648G>C ENST00000373965.2 - 4 606 c.212C>G c.(211-213)cCc>cGc p.P71R PCDH15_ENST00000373957.3_Missense_Mutation_p.P49R|PCDH15_ENST00000395433.1_Missense_Mutation_p.P49R|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P71R|PCDH15_ENST00000320301.6_Missense_Mutation_p.P71R|PCDH15_ENST00000395438.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395442.1_Missense_Mutation_p.P71R|PCDH15_ENST00000414778.1_Missense_Mutation_p.P76R|PCDH15_ENST00000437009.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395445.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395440.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395432.2_Missense_Mutation_p.P71R|PCDH15_ENST00000395446.1_Missense_Mutation_p.P71R|PCDH15_ENST00000395430.1_Missense_Mutation_p.P71R|PCDH15_ENST00000373955.1_Missense_Mutation_p.P71R NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 71 Cadherin 1. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTCTATGGTGGGGTCTGGTCC 0.423000 HNSCC(58;0.16) 8 149 0 0 1 0 0 ZCCHC6 79670 broad.mit.edu 37 9 88967883 88967883 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:88967883C>T ENST00000375961.2 - 2 446 c.232G>A c.(232-234)Gca>Aca p.A78T ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.A78T|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.A78T Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 78 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 46 TTTTTAAATGCATATGGATTG 0.418000 15 144 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68682376 68682376 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:68682376G>A ENST00000255078.3 + 6 908 c.797G>A c.(796-798)gGa>gAa p.G266E IGHMBP2_ENST00000539224.1_3'UTR NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 266 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTGCGCCTGGGACACCCTGCC 0.612000 10 64 0 0 1 0 0 ATP8B1 5205 broad.mit.edu 37 18 55319266 55319266 + Splice_Site SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr18:55319266C>T ENST00000536015.1 - 26 3519 c.3400G>A c.(3400-3402)Ggc>Agc p.G1134S RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Splice_Site_p.G1134S|RP11-35G9.3_ENST00000591854.1_RNA NM_005603.4 NP_005594 O43520 AT8B1_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 1 1134 ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent apical plasma membrane|integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1) 53 Colorectal(73;0.229) AAATACCAACCTGTAAATTGA 0.294000 3 38 0 0 1 0 0 FAM214A 56204 broad.mit.edu 37 15 52902491 52902491 + Missense_Mutation SNP A A G rs61731677 by1000genomes TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:52902491A>G ENST00000261844.7 - 6 772 c.620T>C c.(619-621)gTt>gCt p.V207A FAM214A_ENST00000546305.2_Missense_Mutation_p.V214A NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 207 V -> A (in Ref. 2; BAF85606). TTTCAAGGCAACATTGTGAGA 0.393000 4 64 0 0 1 0 0 PRL 5617 broad.mit.edu 37 6 22294754 22294754 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:22294754G>C ENST00000306482.1 - 2 606 c.88C>G c.(88-90)Ccc>Gcc p.P30A RP3-404K8.2_ENST00000561912.1_RNA NM_000948.5|NM_001163558.2 NP_000939.1|NP_001157030.1 P01236 PRL_HUMAN prolactin 30 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1) 16 Ovarian(93;0.163) GGACAGATGGGCAAGGGGGCC 0.592000 4 30 0 0 1 0 0 CD33 945 broad.mit.edu 37 19 51728804 51728804 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:51728804G>T ENST00000262262.4 + 2 389 c.368G>T c.(367-369)gGa>gTa p.G123V CD33_ENST00000436584.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.G123V|CD33_ENST00000421133.2_Intron NM_001772.3 NP_001763.3 P20138 CD33_HUMAN CD33 molecule 123 Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1) 24 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) ATGGAGAGAGGAAGTACCAAA 0.527000 13 52 2.27111e-07 2.54698e-07 1 1 0 SAMD4B 55095 broad.mit.edu 37 19 39868426 39868426 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:39868426G>A ENST00000314471.6 + 10 2441 c.1406G>A c.(1405-1407)gGa>gAa p.G469E SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.G469E NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 469 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GTCGCCGACGGAGACATCCCC 0.622000 4 52 0 0 1 0 0 USH1G 124590 broad.mit.edu 37 17 72915769 72915769 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:72915769C>T ENST00000319642.1 - 2 1344 c.1162G>A c.(1162-1164)Gag>Aag p.E388K NM_001282489.1|NM_173477.2 NP_001269418.1|NP_775748.2 Q495M9 USH1G_HUMAN Usher syndrome 1G (autosomal recessive) 388 SAM. equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton HN1/USH1G(2) endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3) 14 all_lung(278;0.172)|Lung NSC(278;0.207) GGGCTAGTCTCGGGCTCCAGG 0.632000 7 41 0 0 1 0 0 SFRP4 6424 broad.mit.edu 37 7 37947189 37947189 + Missense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:37947189A>T ENST00000436072.2 - 6 1310 c.933T>A c.(931-933)agT>agA p.S311R EPDR1_ENST00000476620.1_Intron NM_003014.3 NP_003005.2 Q6FHJ7 SFRP4_HUMAN secreted frizzled-related protein 4 311 brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway cell surface|cytoplasm|extracellular space|nucleus PDZ domain binding|Wnt receptor activity|Wnt-protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 TGGGGGGATTACTACGACTGG 0.498000 9 79 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46243532 46243532 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:46243532G>C ENST00000334344.6 + 14 2057 c.1885G>C c.(1885-1887)Gat>Cat p.D629H ARID2_ENST00000422737.1_Missense_Mutation_p.D480H|ARID2_ENST00000444670.1_Missense_Mutation_p.D239H|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 629 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) TTCTGTTCCTGATGTATCTCC 0.343000 """N, S, F""" hepatocellular carcinoma 36 158 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43319618 43319618 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr18:43319618C>T ENST00000321925.4 + 8 1169 c.937C>T c.(937-939)Ctt>Ttt p.L313F RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.L205F|SLC14A1_ENST00000586142.1_Missense_Mutation_p.L313F|SLC14A1_ENST00000591541.1_Missense_Mutation_p.L17F|SLC14A1_ENST00000436407.3_Missense_Mutation_p.L369F|SLC14A1_ENST00000415427.3_Missense_Mutation_p.L369F|SLC14A1_ENST00000402943.2_Missense_Mutation_p.L208F|SLC14A1_ENST00000535474.1_Missense_Mutation_p.L181F|SLC14A1_ENST00000589700.1_Silent_p.L263L|RP11-116O18.3_ENST00000586213.1_RNA NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 313 integral to plasma membrane urea transmembrane transporter activity p.L313V(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 CCTCCTGGCTCTTGGCTGTGG 0.532000 9 35 0 0 1 0 0 CD81-AS1 101927682 broad.mit.edu 37 11 2356594 2356594 + RNA SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:2356594C>G ENST00000413483.1 - 0 407 RPL26P30_ENST00000602923.1_RNA TTTCTCTTTTCCAACTTGTTG 0.413000 8 42 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21821928 21821928 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:21821928C>T ENST00000216297.2 - 24 3192 c.2854G>A c.(2854-2856)Gaa>Aaa p.E952K NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 952 Glu-rich (acidic). 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 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) TAGTCATCTTCTGAAGGATTA 0.408000 7 86 0 0 1 0 0 CALR3 125972 broad.mit.edu 37 19 16601209 16601209 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:16601209C>T ENST00000269881.3 - 3 428 c.366G>A c.(364-366)ctG>ctA p.L122L CTD-3222D19.2_ENST00000409035.1_Intron NM_145046.4 NP_659483.2 Q96L12 CALR3_HUMAN calreticulin 3 122 N-domain. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1) 15 ATTTTCCATTCAGGTTCTTCT 0.423000 26 55 0 0 1 0 0 METTL2A 339175 broad.mit.edu 37 17 60501649 60501649 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:60501649G>T ENST00000311506.5 + 2 216 c.180G>T c.(178-180)caG>caT p.Q60H NM_181725.3 NP_859076.3 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 60 methyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2) 6 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) ACAGTATCCAGCGGGTGTGCC 0.592000 OREG0024635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 30 0.00024832 0.000263591 1 1 0 PTGES3L-AARSD1 100885850 broad.mit.edu 37 17 41105755 41105755 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:41105755C>G ENST00000421990.2 - 15 1861 c.1516G>C c.(1516-1518)Gag>Cag p.E506Q AARSD1_ENST00000427569.2_Missense_Mutation_p.E332Q|PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.E506Q|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.E445Q|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.E415Q NM_001136042.2 NP_001129514.2 GACCCAATCTCATTGGCAATG 0.502000 8 54 0 0 1 0 0 TDRD7 23424 broad.mit.edu 37 9 100245529 100245529 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:100245529G>A ENST00000355295.4 + 15 3106 c.2811G>A c.(2809-2811)aaG>aaA p.K937K TDRD7_ENST00000540902.1_Silent_p.K257K|TDRD7_ENST00000422139.2_Silent_p.K863K NM_014290.2 NP_055105.2 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 937 Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Acute lymphoblastic leukemia(62;0.158) AGATACATAAGTTGGAAGTTC 0.478000 6 75 0 0 1 0 0 ROPN1 54763 broad.mit.edu 37 3 123688915 123688915 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:123688915C>A ENST00000184183.4 - 6 886 c.546G>T c.(544-546)agG>agT p.R182S ROPN1_ENST00000405845.3_Missense_Mutation_p.R182S NM_017578.2 NP_060048.2 Q9HAT0 ROP1A_HUMAN rhophilin associated tail protein 1 182 signal transduction cAMP-dependent protein kinase regulator activity lung(2)|ovary(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.148) AGTTTAGCATCCTGCTGACAT 0.453000 10 98 1.76689e-08 2.02149e-08 1 1 0 IL13RA1 3597 broad.mit.edu 37 X 117900535 117900535 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:117900535G>A ENST00000371666.3 + 7 938 c.871G>A c.(871-873)Gtg>Atg p.V291M IL13RA1_ENST00000481868.1_3'UTR NM_001560.2 NP_001551.1 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 291 interleukin-13 receptor complex cytokine receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 12 TGAGAGAAATGTGGAGGTCAG 0.333000 22 32 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115350145 115350145 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:115350145G>A ENST00000357872.4 + 16 2495 c.2371G>A c.(2371-2373)Gcg>Acg p.A791T AQPEP_ENST00000515454.1_3'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 791 proteolysis integral to membrane metallopeptidase activity|zinc ion binding TTTTGTAACTGCGTGTTGGTT 0.358000 5 55 0 0 1 0 0 CCDC85A 114800 broad.mit.edu 37 2 56603022 56603022 + Silent SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:56603022A>G ENST00000407595.2 + 5 2026 c.1524A>G c.(1522-1524)ggA>ggG p.G508G RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 508 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCTTCAGTGGACATGCCACAC 0.458000 6 27 0 0 1 0 0 TP53BP2 7159 broad.mit.edu 37 1 223994610 223994610 + Nonsense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:223994610G>A ENST00000391878.2 - 6 793 c.25C>T c.(25-27)Cag>Tag p.Q9* TP53BP2_ENST00000343537.7_Nonsense_Mutation_p.Q138* NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 132 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) GCCATTTCCTGAAGTTCAGCA 0.408000 36 76 0 0 1 0 0 PCIF1 63935 broad.mit.edu 37 20 44574444 44574444 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:44574444G>C ENST00000372409.3 + 12 1627 c.1263G>C c.(1261-1263)atG>atC p.M421I PCIF1_ENST00000479348.1_3'UTR NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 421 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 GCGTGGAGATGCACATGGAGA 0.612000 9 105 0 0 1 0 0 ZNF641 121274 broad.mit.edu 37 12 48737057 48737057 + Missense_Mutation SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:48737057T>C ENST00000544117.2 - 6 1724 c.1016A>G c.(1015-1017)cAg>cGg p.Q339R ZNF641_ENST00000448928.3_Missense_Mutation_p.Q316R|ZNF641_ENST00000301042.3_Missense_Mutation_p.Q339R|ZNF641_ENST00000547026.1_Missense_Mutation_p.Q325R Q96N77 ZN641_HUMAN zinc finger protein 641 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 ATGCACTCTCTGGTGGCTGGC 0.557000 25 81 0 0 1 0 0 ITGB1BP2 26548 broad.mit.edu 37 X 70522288 70522288 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:70522288G>A ENST00000538820.1 + 3 485 c.145G>A c.(145-147)Gag>Aag p.E49K ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.E67K Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein (melusin) 2 67 CHORD 1.|Cys-rich. muscle organ development|signal transduction SH3 domain binding breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1) 14 Renal(35;0.156) ACACTGTGCTGAGAAGCTTCC 0.458000 8 16 0 0 1 0 0 ZNF518A 9849 broad.mit.edu 37 10 97919613 97919613 + RNA SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:97919613G>C ENST00000534948.1 + 0 4391 Q6AHZ1 Z518A_HUMAN zinc finger protein 518A regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) CATCTAATCAGATTATAGGAG 0.373000 11 54 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 124209673 124209673 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:124209673G>A ENST00000360013.3 + 30 4650 c.4523G>A c.(4522-4524)aGc>aAc p.S1508N KALRN_ENST00000460856.1_Missense_Mutation_p.S1499N|KALRN_ENST00000240874.3_Missense_Mutation_p.S1508N NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 1508 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TTGGTTTTTAGCAAGGAGATC 0.498000 26 54 0 0 1 0 0 SEPT8 23176 broad.mit.edu 37 5 132098183 132098183 + Missense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:132098183A>T ENST00000296873.7 - 5 972 c.689T>A c.(688-690)gTc>gAc p.V230D SEPT8_ENST00000378706.1_Missense_Mutation_p.V230D|SEPT8_ENST00000448933.1_Missense_Mutation_p.V170D|SEPT8_ENST00000458488.2_Missense_Mutation_p.V230D|SEPT8_ENST00000378699.2_Missense_Mutation_p.V170D|SEPT8_ENST00000378721.4_Missense_Mutation_p.V228D|SEPT8_ENST00000378701.1_Missense_Mutation_p.V228D|SEPT8_ENST00000378719.2_Missense_Mutation_p.V230D NM_001098812.1|NM_015146.1 NP_001092282.1|NP_055961.1 Q92599 SEPT8_HUMAN septin 8 230 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CACATTCATGACTGCGTTAAT 0.577000 8 56 0 0 1 0 0 ZNF607 84775 broad.mit.edu 37 19 38189439 38189439 + Missense_Mutation SNP T T G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:38189439T>G ENST00000355202.4 - 5 2188 c.1593A>C c.(1591-1593)aaA>aaC p.K531N CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.K530N NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 531 K -> R (in dbSNP:rs958305). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) ATTCAAAGGGTTTCTTACCAC 0.403000 62 80 0 0 1 0 0 ANKRD27 84079 broad.mit.edu 37 19 33110200 33110200 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:33110200G>A ENST00000306065.4 - 20 2131 c.1973C>T c.(1972-1974)tCa>tTa p.S658L NM_032139.2 NP_115515.2 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 658 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) CTCCTGCCTTGAGCTGGCTGA 0.642000 7 102 0 0 1 0 0 ZNF146 7705 broad.mit.edu 37 19 36727883 36727883 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:36727883G>C ENST00000456324.1 + 3 1990 c.541G>C c.(541-543)Gag>Cag p.E181Q ZNF146_ENST00000443387.2_Missense_Mutation_p.E181Q|ZNF565_ENST00000355114.5_Intron NM_001099638.1|NM_001099639.1 NP_001093108.1|NP_001093109.1 Q15072 OZF_HUMAN zinc finger protein 146 181 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Esophageal squamous(110;0.162) TCACACTGGAGAGAAACCCTA 0.393000 57 59 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175087923 175087923 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:175087923C>A ENST00000239462.4 + 11 2726 c.2613C>A c.(2611-2613)aaC>aaA p.N871K NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 871 Fibronectin type-III 7. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGAAGGGGAACCAGGAGAGCA 0.587000 5 73 0.014758 0.0151003 1 1 0 TEK 7010 broad.mit.edu 37 9 27197331 27197331 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:27197331G>C ENST00000380036.4 + 12 2085 c.1643G>C c.(1642-1644)gGt>gCt p.G548A TEK_ENST00000519097.1_Missense_Mutation_p.G401A|TEK_ENST00000406359.4_Missense_Mutation_p.G505A NM_000459.3 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 548 Fibronectin type-III 2. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CCTCCAAGAGGTCTAAATCTC 0.403000 8 72 0 0 1 0 0 DACT3 147906 broad.mit.edu 37 19 47151947 47151947 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:47151947C>T ENST00000391916.2 - 4 1755 c.1682G>A c.(1681-1683)aGc>aAc p.S561N DACT3_ENST00000300875.4_Missense_Mutation_p.S336N NM_145056.2 NP_659493.2 Q96B18 DACT3_HUMAN dishevelled-binding antagonist of beta-catenin 3 561 lung(1) 1 Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000173)|all cancers(93;0.000464)|Epithelial(262;0.02)|GBM - Glioblastoma multiforme(486;0.0325) GGAGGCAGAGCTGAAGGCAGG 0.751000 6 82 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55961065 55961065 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr4:55961065G>C ENST00000263923.4 - 21 3170 c.2875C>G c.(2875-2877)Ctg>Gtg p.L959V NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 959 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CGCCGTTTCAGATCCACAGGG 0.478000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 12 61 0 0 1 0 0 KRTAP27-1 643812 broad.mit.edu 37 21 31709409 31709409 + Missense_Mutation SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr21:31709409T>C ENST00000382835.2 - 1 603 c.578A>G c.(577-579)gAa>gGa p.E193G NM_001077711.1 NP_001071179.1 Q3LI81 KR271_HUMAN keratin associated protein 27-1 193 intermediate filament endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 GCAAGTTGGTTCAACTCCTGG 0.438000 8 52 0 0 1 0 0 PLEKHA7 144100 broad.mit.edu 37 11 16892712 16892712 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:16892712G>C ENST00000355661.3 - 4 249 c.239C>G c.(238-240)aCa>aGa p.T80R PLEKHA7_ENST00000448080.2_Missense_Mutation_p.T80R|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.T80R Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A member 7 80 WW 2. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1) 37 CCTGAATGCTGTGGTCTGCTG 0.428000 6 32 0 0 1 0 0 EDA 1896 broad.mit.edu 37 X 69255458 69255458 + Nonstop_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:69255458A>G ENST00000374552.4 + 8 1417 c.1175A>G c.(1174-1176)tAg>tGg p.*392W EDA_ENST00000374553.2_Nonstop_Mutation_p.*390W|EDA_ENST00000524573.1_Nonstop_Mutation_p.*387W NM_001399.4 NP_001390.1 Q92838 EDA_HUMAN ectodysplasin A 0 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1) 14 CCTGCATCCTAGATTCCCCCC 0.567000 31 34 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838763 100838763 + Missense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:100838763A>T ENST00000369208.3 - 12 2557 c.1775T>A c.(1774-1776)cTg>cAg p.L592Q SIM1_ENST00000262901.4_Missense_Mutation_p.L592Q P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 592 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AATGGAAGCCAGTTGGTCTGA 0.468000 8 65 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44224183 44224183 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:44224183G>A ENST00000393812.3 - 3 399 c.256C>T c.(256-258)Ccc>Tcc p.P86S SLC35B2_ENST00000538577.1_Intron|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Intron|SLC35B2_ENST00000495706.1_5'UTR NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 86 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GAGGCCTTGGGCTCATTGCCA 0.577000 11 75 0 0 1 0 0 C1orf116 79098 broad.mit.edu 37 1 207200869 207200869 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:207200869C>A ENST00000359470.5 - 2 324 c.75G>T c.(73-75)atG>atT p.M25I C1orf116_ENST00000461135.2_Intron NM_023938.5 NP_076427.2 Q9BW04 SARG_HUMAN chromosome 1 open reading frame 116 25 cytoplasm|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1) 29 Prostate(682;0.19) TGCTGCTCATCATGCTGTCAC 0.632000 6 51 3.59834e-05 3.8819e-05 1 1 0 MOB3C 148932 broad.mit.edu 37 1 47078790 47078790 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:47078790G>C ENST00000371940.1 - 1 3347 c.273C>G c.(271-273)ttC>ttG p.F91L MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.F120L|MOB3C_ENST00000319928.3_Missense_Mutation_p.F68L|MKNK1_ENST00000545730.1_Intron Q70IA8 MOL2C_HUMAN MOB kinase activator 3C 68 metal ion binding TGATGCGGTTGAAGAAGTCCA 0.652000 7 27 0 0 1 0 0 SLC7A1 6541 broad.mit.edu 37 13 30107006 30107006 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:30107006C>G ENST00000380752.5 - 4 870 c.484G>C c.(484-486)Gaa>Caa p.E162Q NM_003045.4 NP_003036.1 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 162 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TCGGGGTTTTCAGCCAGCACG 0.547000 21 77 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74005731 74005731 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:74005731C>T ENST00000301607.3 - 22 3808 c.3555G>A c.(3553-3555)aaG>aaA p.K1185K EVPL_ENST00000586740.1_Silent_p.K1207K NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1185 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TGGGCCTCTGCTTCTCCACCA 0.632000 4 57 0 0 1 0 0 C2orf47 79568 broad.mit.edu 37 2 200820940 200820940 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:200820940G>A ENST00000295079.2 + 2 741 c.419G>A c.(418-420)aGc>aAc p.S140N C2orf47_ENST00000392290.1_Missense_Mutation_p.S140N NM_024520.2 NP_078796.2 Q8WWC4 CB047_HUMAN chromosome 2 open reading frame 47 140 mitochondrion cervix(1)|endometrium(2)|large_intestine(1)|lung(5) 9 AAAGAGTTCAGCATCACAGAG 0.463000 27 84 0 0 1 0 0 FAM227B 196951 broad.mit.edu 37 15 49800544 49800544 + Splice_Site SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:49800544A>C ENST00000299338.6 - 11 1179 c.876T>G c.(874-876)ggT>ggG p.G292G FAM227B_ENST00000561064.1_Splice_Site_p.G258G NM_152647.2 NP_689860.2 family with sequence similarity 227, member B GAGGTTTTAAACCTGTTAATA 0.303000 6 44 0 0 1 0 0 MED1 5469 broad.mit.edu 37 17 37599809 37599809 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:37599809G>T ENST00000300651.6 - 3 428 c.205C>A c.(205-207)Ctc>Atc p.L69I MED1_ENST00000394287.3_Missense_Mutation_p.L69I NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 69 Interaction with ESR1.|Interaction with the Mediator complex and THRA. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) AAACCTTTGAGAGCCTTCTGC 0.398000 HNSCC(31;0.082) 8 49 0.00448238 0.00467062 1 1 0 ST3GAL1 6482 broad.mit.edu 37 8 134475669 134475669 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:134475669C>T ENST00000319914.5 - 7 1744 c.717G>A c.(715-717)gtG>gtA p.V239V ST3GAL1_ENST00000522652.1_Silent_p.V239V|ST3GAL1_ENST00000521180.1_Silent_p.V239V|ST3GAL1_ENST00000399640.2_Silent_p.V239V Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 1 239 protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) TATCCTGTTTCACTCTGATCT 0.547000 3 17 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43851768 43851768 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:43851768G>A ENST00000372769.3 + 2 1585 c.1495G>A c.(1495-1497)Gaa>Aaa p.E499K NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 499 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) TTTCCAAATTGAAAAGCTAGT 0.398000 6 77 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10419989 10419989 + Missense_Mutation SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:10419989T>C ENST00000397077.1 - 9 1588 c.1013A>G c.(1012-1014)aAg>aGg p.K338R ATP2B2_ENST00000343816.4_Missense_Mutation_p.K369R|ATP2B2_ENST00000352432.4_Missense_Mutation_p.K383R|ATP2B2_ENST00000383800.4_Missense_Mutation_p.K338R|ATP2B2_ENST00000360273.2_Missense_Mutation_p.K383R Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 383 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CAGCACGGACTTCTCCTTCTT 0.657000 8 66 0 0 1 0 0 SEC62 7095 broad.mit.edu 37 3 169710730 169710730 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:169710730G>A ENST00000337002.4 + 8 1137 c.1079G>A c.(1078-1080)gGa>gAa p.G360E SEC62_ENST00000480708.1_Missense_Mutation_p.G360E NM_003262.3 NP_003253.1 Q99442 SEC62_HUMAN SEC62 homolog (S. cerevisiae) 360 cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1) 9 AGTGGAAATGGAAATGATTTT 0.458000 4 39 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123451827 123451827 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:123451827G>C ENST00000360772.3 - 12 1810 c.1432C>G c.(1432-1434)Cgg>Ggg p.R478G MYLK_ENST00000475616.1_Missense_Mutation_p.R478G|MYLK_ENST00000359169.1_Missense_Mutation_p.R478G|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000360304.3_Missense_Mutation_p.R478G Q15746 MYLK_HUMAN myosin light chain kinase 478 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCCCTGGTCCGGGCTTTCAGC 0.577000 6 44 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117342611 117342611 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:117342611C>G ENST00000321322.6 - 15 3107 c.3106G>C c.(3106-3108)Gag>Cag p.E1036Q DSCAML1_ENST00000527706.1_Missense_Mutation_p.E766Q NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 976 Fibronectin type-III 2. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ATGGTGAGCTCCTTGCTTGGT 0.592000 21 32 0 0 1 0 0 TKTL1 8277 broad.mit.edu 37 X 153539541 153539541 + Nonsense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:153539541A>T ENST00000369915.3 + 5 811 c.622A>T c.(622-624)Aag>Tag p.K208* TKTL1_ENST00000369912.2_Nonsense_Mutation_p.K152*|TKTL1_ENST00000217905.7_Intron NM_001145933.1|NM_012253.3 NP_001139405.1|NP_036385.3 P51854 TKTL1_HUMAN transketolase-like 1 208 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2) 34 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGTGAAGCACAAGCCCACTGC 0.587000 25 83 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233120095 233120095 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:233120095G>T ENST00000258229.9 - 34 6603 c.6369C>A c.(6367-6369)ggC>ggA p.G2123G PCNXL2_ENST00000344698.2_3'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) TGTCGTCCAGGCCCATGTCCT 0.667000 4 25 0.00024832 0.000263591 1 1 0 MYC 4609 broad.mit.edu 37 8 128750529 128750529 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:128750529C>A ENST00000377970.2 + 2 576 c.66C>A c.(64-66)ttC>ttA p.F22L MYC_ENST00000524013.1_Missense_Mutation_p.F21L|MYC_ENST00000259523.6_Missense_Mutation_p.F7L NM_002467.4 NP_002458 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 7 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) ACGTTAGCTTCACCAACAGGA 0.587000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 61 1.08312e-15 1.29909e-15 1 1 0 DNAH2 146754 broad.mit.edu 37 17 7710807 7710807 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:7710807G>C ENST00000572933.1 + 63 11092 c.9632G>C c.(9631-9633)cGg>cCg p.R3211P DNAH2_ENST00000389173.2_Missense_Mutation_p.R3211P Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3211 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CGGCTATATCGGGTGGTGGAG 0.642000 5 53 0 0 1 0 0 NDUFAF1 51103 broad.mit.edu 37 15 41687143 41687143 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:41687143C>A ENST00000260361.4 - 3 1054 c.673G>T c.(673-675)Gag>Tag p.E225* NM_016013.3 NP_057097.2 Q9Y375 CIA30_HUMAN NADH dehydrogenase (ubiquinone) complex I, assembly factor 1 225 mitochondrial electron transport, NADH to ubiquinone|protein complex assembly mitochondrial respiratory chain complex I unfolded protein binding endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114) TCTGTGTCCTCCTTGATATTC 0.488000 12 39 3.07112e-06 3.38676e-06 1 1 0 GRID1 2894 broad.mit.edu 37 10 88123752 88123752 + Missense_Mutation SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:88123752T>C ENST00000327946.7 - 2 266 c.181A>G c.(181-183)Acc>Gcc p.T61A NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 61 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) ATGGAGTAGGTGATCTTCTCG 0.602000 Multiple Myeloma(13;0.14) 8 37 0 0 1 0 0 WFDC13 164237 broad.mit.edu 37 20 44330835 44330835 + Missense_Mutation SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:44330835A>C ENST00000305479.2 + 1 181 c.73A>C c.(73-75)Aag>Cag p.K25Q WFDC10B_ENST00000335769.2_Intron|WFDC10B_ENST00000330523.5_Intron NM_172005.1 NP_742002.1 Q8IUB5 WFD13_HUMAN WAP four-disulfide core domain 13 25 extracellular region peptidase inhibitor activity skin(1)|upper_aerodigestive_tract(1) 2 Myeloproliferative disorder(115;0.0122) TGGGAGTCCCAAGCAGCGTGT 0.562000 4 22 0 0 1 0 0 HIGD1C 613227 broad.mit.edu 37 12 51347856 51347856 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:51347856C>A ENST00000398455.3 + 1 152 c.75C>A c.(73-75)gaC>gaA p.D25E NM_001109619.1 NP_001103089.1 A8MV81 HIG1C_HUMAN HIG1 hypoxia inducible domain family, member 1C 25 HIG1. integral to membrane lung(1) 1 AATCTAGAGACTCCCCCTTTG 0.413000 9 82 0.00621372 0.00642408 1 1 0 SPPL2C 162540 broad.mit.edu 37 17 43923859 43923859 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:43923859G>A ENST00000329196.5 + 1 1604 c.1587G>A c.(1585-1587)caG>caA p.Q529Q MAPT-AS1_ENST00000579599.1_RNA|MAPT-AS1_ENST00000579244.1_RNA NM_175882.2 NP_787078.2 Q8IUH8 IMP5_HUMAN signal peptide peptidase like 2C 529 integral to membrane aspartic-type endopeptidase activity GGACTGGCCAGGGCAGAGCTA 0.632000 11 55 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9323690 9323690 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:9323690G>A ENST00000377403.2 + 5 1440 c.1138G>A c.(1138-1140)Gtg>Atg p.V380M H6PD_ENST00000602477.1_Missense_Mutation_p.V391M NM_001282587.1|NM_004285.3 NP_001269516.1|NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 380 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GGCCTGCTGTGTGCAGAGCGA 0.642000 7 74 0 0 1 0 0 ACVR1B 91 broad.mit.edu 37 12 52379062 52379062 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:52379062C>G ENST00000257963.4 + 6 1143 c.1066C>G c.(1066-1068)Ctg>Gtg p.L356V ACVR1B_ENST00000541224.1_Missense_Mutation_p.L397V|ACVR1B_ENST00000415850.2_Missense_Mutation_p.L356V|ACVR1B_ENST00000542485.1_Missense_Mutation_p.L304V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.L356V|ACVR1B_ENST00000563121.1_3'UTR NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 356 Protein kinase. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) AGACCTGGGCCTGGCTGTCCG 0.522000 14 64 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5494799 5494799 + Translation_Start_Site SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:5494799G>A ENST00000542715.1 + 0 434 NET1_ENST00000355029.4_Intron|NET1_ENST00000380359.3_Intron Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 AATGACCTCTGATGTTTGCTG 0.323000 10 83 0 0 1 0 0 CADM3 57863 broad.mit.edu 37 1 159166681 159166681 + Splice_Site SNP C C G rs149370954 by1000genomes TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:159166681C>G ENST00000368125.4 + 7 940 c.783C>G c.(781-783)gtC>gtG p.V261V CADM3_ENST00000368124.4_Splice_Site_p.V295V|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 261 Ig-like C2-type 2. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) GCCTCGACAGCCCCCAGCAGT 0.517000 5 53 0 0 1 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629419 9629419 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:9629419C>A ENST00000382492.2 - 1 1044 c.726G>T c.(724-726)atG>atT p.M242I CTD-2001E22.1_ENST00000504182.2_RNA NM_019599.2 NP_062545.1 Q9NYW7 TA2R1_HUMAN taste receptor, type 2, member 1 242 chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1) 39 AAACTTTTATCATGCAGTGGG 0.478000 10 50 4.68919e-08 5.30373e-08 1 1 0 DPPA4 55211 broad.mit.edu 37 3 109047785 109047785 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:109047785G>T ENST00000335658.6 - 6 884 c.830C>A c.(829-831)cCa>cAa p.P277Q NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 277 nucleus protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 GTGCGGGGGTGGAAAATTGGA 0.473000 5 29 0.0215528 0.021996 1 1 0 FCRL3 115352 broad.mit.edu 37 1 157667580 157667580 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:157667580C>G ENST00000368184.3 - 5 719 c.428G>C c.(427-429)aGt>aCt p.S143T FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.S143T NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor-like 3 143 Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2) 69 all_hematologic(112;0.0378) TAAATTATAACTATTAGGAAG 0.348000 15 114 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61767054 61767054 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:61767054G>A ENST00000423902.2 + 32 7387 c.6908G>A c.(6907-6909)aGa>aAa p.R2303K CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2303 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTTCATGAAAGAACATTTGCC 0.443000 8 52 0 0 1 0 0 G6PC 2538 broad.mit.edu 37 17 41063350 41063350 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:41063350C>T ENST00000253801.2 + 5 1060 c.981C>T c.(979-981)ttC>ttT p.F327F G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR NM_000151.3 NP_000142.2 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 327 Missing (in GSD1A). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) TCTTGTCCTTCTGCAAGAGTG 0.577000 10 117 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95712801 95712801 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:95712801C>A ENST00000524717.1 - 5 4066 c.2782G>T c.(2782-2784)Gga>Tga p.G928* NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 928 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.G928*(1) CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CCAACAGATCCAGCTCCAAAA 0.413000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 12 62 5.50884e-06 6.02482e-06 1 1 0 RARRES1 5918 broad.mit.edu 37 3 158428666 158428666 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:158428666G>C ENST00000237696.5 - 3 676 c.396C>G c.(394-396)ttC>ttG p.F132L RARRES1_ENST00000498640.1_Intron|RARRES1_ENST00000479756.1_Missense_Mutation_p.F132L NM_206963.1 NP_996846.1 P49788 TIG1_HUMAN retinoic acid receptor responder (tazarotene induced) 1 132 negative regulation of cell proliferation integral to membrane NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1) 9 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) Tretinoin(DB00755) TCTGATTCTTGAAAAACACTC 0.428000 48 123 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158059372 158059372 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:158059372G>T ENST00000368172.1 + 5 579 c.567G>T c.(565-567)gtG>gtT p.V189V KIRREL_ENST00000416935.2_Silent_p.V275V|KIRREL_ENST00000359209.6_Silent_p.V375V|KIRREL_ENST00000368173.3_Silent_p.V391V|KIRREL_ENST00000360089.4_Silent_p.V211V|KIRREL_ENST00000392272.2_Silent_p.V272V Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 375 Ig-like C2-type 2. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GGGCCATCGTGCCTCGAATCG 0.637000 18 36 1.56452e-12 1.84856e-12 1 1 0 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Splice_Site SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:106820975C>T ENST00000228347.4 + 13 1324 c.1102C>T c.(1102-1104)Ctt>Ttt p.L368F POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L368F(4) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTTTTTTAGCTTTTATCTCT 0.274000 5 11 0 0 1 0 0 WDR26 80232 broad.mit.edu 37 1 224599169 224599169 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:224599169C>G ENST00000414423.2 - 7 1311 c.1118G>C c.(1117-1119)gGa>gCa p.G373A WDR26_ENST00000295024.6_Missense_Mutation_p.G226A|WDR26_ENST00000366852.2_3'UTR NM_001115113.2|NM_025160.6 NP_001108585.2|NP_079436.4 Q9H7D7 WDR26_HUMAN WD repeat domain 26 373 cytoplasm|nucleus biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 18 GBM - Glioblastoma multiforme(131;0.0104) ATCTTTTGATCCTGTTGCTAG 0.368000 5 68 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100675897 100675897 + Silent SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:100675897C>G ENST00000306151.4 + 3 1264 c.1200C>G c.(1198-1200)gtC>gtG p.V400V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 400 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ATATGCCTGTCAGCACCATAT 0.463000 101 235 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36722034 36722034 + Silent SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:36722034C>G ENST00000399881.3 + 19 2041 c.2004C>G c.(2002-2004)acC>acG p.T668T NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 668 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CAAACTTCACCACCAGGTAAA 0.403000 25 55 0 0 1 0 0 AMZ2 51321 broad.mit.edu 37 17 66247008 66247008 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:66247008C>G ENST00000359904.3 + 3 1489 c.357C>G c.(355-357)ttC>ttG p.F119L AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000359783.4_Intron|AMZ2_ENST00000577866.1_Missense_Mutation_p.F119L|AMZ2_ENST00000580753.1_Missense_Mutation_p.F119L|AMZ2_ENST00000577985.1_Missense_Mutation_p.F119L|AMZ2_ENST00000392720.2_Missense_Mutation_p.F119L|AMZ2_ENST00000577273.1_Missense_Mutation_p.F119L NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 119 metallopeptidase activity|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) AAGCATATTTCTATGGCTTGA 0.368000 8 59 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46245434 46245434 + Silent SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:46245434T>C ENST00000334344.6 + 15 3700 c.3528T>C c.(3526-3528)gtT>gtC p.V1176V ARID2_ENST00000422737.1_Silent_p.V1027V|ARID2_ENST00000444670.1_Silent_p.V786V|ARID2_ENST00000479608.1_3'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1176 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) CCATAACAGTTGTGCCAAATA 0.478000 """N, S, F""" hepatocellular carcinoma 10 76 0 0 1 0 0 MAB21L1 4081 broad.mit.edu 37 13 36049441 36049441 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:36049441A>G ENST00000379919.4 - 1 1391 c.835T>C c.(835-837)Tcc>Ccc p.S279P NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron NM_005584.4 NP_005575.1 Q13394 MB211_HUMAN mab-21-like 1 (C. elegans) 279 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CACTCGTAGGAAACCAGAGTC 0.522000 10 80 0 0 1 0 0 C5orf24 134553 broad.mit.edu 37 5 134191113 134191113 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:134191113G>T ENST00000394976.3 + 2 751 c.523G>T c.(523-525)Ggg>Tgg p.G175W C5orf24_ENST00000435259.2_Missense_Mutation_p.G175W|C5orf24_ENST00000338051.4_Missense_Mutation_p.G175W|C5orf24_ENST00000504727.1_Intron NM_001135586.1 NP_001129058.1 Q7Z6I8 CE024_HUMAN chromosome 5 open reading frame 24 175 breast(2)|endometrium(2)|lung(2) 6 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCAGTTCATGGGGTAGAGGA 0.478000 14 49 4.36969e-10 5.07242e-10 1 1 0 KCNB1 3745 broad.mit.edu 37 20 47990502 47990502 + Missense_Mutation SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:47990502A>C ENST00000371741.4 - 2 1761 c.1595T>G c.(1594-1596)aTg>aGg p.M532R NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 532 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTTATTGTACATGTCTTCCAA 0.468000 18 201 0 0 1 0 0 CEP68 23177 broad.mit.edu 37 2 65299062 65299073 + In_Frame_Del DEL CTGCCAGATTCC CTGCCAGATTCC - TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:65299062_65299073delCTGCCAGATTCC ENST00000377990.2 + 3 1035_1046 c.832_843delCTGCCAGATTCC c.(832-843)ctgccagattccdel p.LPDS278del CEP68_ENST00000546106.1_In_Frame_Del_p.LPDS278del|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_In_Frame_Del_p.LPDS278del NM_015147.2 NP_055962.2 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 278 centrosome organization centrosome breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 GGCCTGTGTGCTGCCAGATTCCCTGCCTCCAT 0.594 8 134 --- --- --- --- NAT8 9027 broad.mit.edu 37 2 73868318 73868337 + Frame_Shift_Del DEL ACTGTCCACAAAGAGATGAA ACTGTCCACAAAGAGATGAA - rs13538 byFrequency TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:73868318_73868337delACTGTCCACAAAGAGATGAA ENST00000272425.3 - 2 568_587 c.419_438delTTCATCTCTTTGTGGACAGT c.(418-438)tttcatctctttgtggacagtfs p.FHLFVDS140fs NM_003960.3|NM_016347.2 NP_003951.3|NP_057431.2 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 (GCN5-related, putative) 140 N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity p.V144A(1)|p.L142V(1) breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1) 9 GACGGTGCTCACTGTCCACAAAGAGATGAAACAGCTGCAA 0.568 8 76 --- --- --- --- GCC2 9648 broad.mit.edu 37 2 109086923 109086924 + Frame_Shift_Ins INS - - G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:109086923_109086924insG ENST00000309863.6 + 6 1852_1853 c.1138_1139insG c.(1138-1140)cggfs p.R380fs NM_181453.3 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 380 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 TTTTCATGAACGGGAAGACTTA 0.282 35 78 --- --- --- --- OR2A12 346525 broad.mit.edu 37 7 143793122 143793127 + In_Frame_Del DEL AGATCA AGATCA - TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:143793122_143793127delAGATCA ENST00000408949.2 + 1 982_987 c.922_927delAGATCA c.(922-927)agatcadel p.RS308del NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R308R(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) TTGGAAACAGAGATCAATGTGAAGAA 0.427 7 141 --- --- --- --- ADAMTS8 11095 broad.mit.edu 37 11 130286913 130286925 + Frame_Shift_Del DEL TGGTCCCGATGTC TGGTCCCGATGTC - TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:130286913_130286925delTGGTCCCGATGTC ENST00000257359.6 - 3 1712_1724 c.1006_1018delGACATCGGGACCA c.(1006-1020)gacatcgggaccattfs p.DIGTI336fs NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 336 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGGTCACAAATGGTCCCGATGTCTGCCACACCC 0.601 8 136 --- --- --- --- RASSF3 283349 broad.mit.edu 37 12 65088574 65088583 + Frame_Shift_Del DEL ATTTCTTGCG ATTTCTTGCG - rs147804503 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:65088574_65088583delATTTCTTGCG ENST00000542104.1 + 5 719_728 c.599_608delATTTCTTGCG c.(598-609)aatttcttgcgcfs p.NFLR200fs RASSF3_ENST00000336061.2_Frame_Shift_Del_p.NFLR200fs NM_178169.3 NP_835463.1 Q86WH2 RASF3_HUMAN Ras association (RalGDS/AF-6) domain family member 3 200 SARAH. signal transduction cytoplasm|microtubule identical protein binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132) GBM - Glioblastoma multiforme(28;0.0611) GAACTACAGAATTTCTTGCGCATCTTGGAC 0.481 14 74 --- --- --- --- CRY1 1407 broad.mit.edu 37 12 107393605 107393606 + Frame_Shift_Ins INS - - T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:107393605_107393606insT ENST00000008527.5 - 7 1727_1728 c.860_861insA c.(859-861)tatfs p.Y287fs NM_004075.4 NP_004066.1 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 287 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1) 29 ACAGTTGCCCATAAAGGGAAAG 0.351 19 55 --- --- --- --- IGHG1 3500 broad.mit.edu 37 14 106208063 106208067 + RNA DEL CTGAC CTGAC - TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:106208063_106208067delCTGAC ENST00000390548.2 - 0 735_739 GCAGGTCAGGCTGACCTGGTTCTTG 0.615 8 260 --- --- --- --- PIPOX 51268 broad.mit.edu 37 17 27380490 27380490 + Frame_Shift_Del DEL C C - TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:27380490delC ENST00000323372.4 + 4 863 c.537delC c.(535-537)aacfs p.N179fs PIPOX_ENST00000583215.1_3'UTR NM_016518.2 NP_057602.2 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 179 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) TGGAGATAAACCCAGGGCTAC 0.542 7 90 --- --- --- --- KANSL1 284058 broad.mit.edu 37 17 44248783 44248783 + Frame_Shift_Del DEL G G - rs142096969 byFrequency TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:44248783delG ENST00000262419.6 - 2 1197 c.727delC c.(727-729)caafs p.Q243fs KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000432791.1_Frame_Shift_Del_p.Q243fs|KANSL1_ENST00000574590.1_Frame_Shift_Del_p.Q243fs|KANSL1_ENST00000575318.1_Frame_Shift_Del_p.Q243fs|KANSL1_ENST00000572904.1_Frame_Shift_Del_p.Q243fs NM_001193466.1 NP_001180395 Q7Z3B3 K1267_HUMAN KAT8 regulatory NSL complex subunit 1 243 MLL1 complex protein binding p.Q243E(2) CTGCTTCCTTGAAGTGCCGGC 0.438 12 138 --- --- --- --- KCNJ16 3773 broad.mit.edu 37 17 68129040 68129055 + Frame_Shift_Del DEL TAGCCAAAGATAACTT TAGCCAAAGATAACTT - TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:68129040_68129055delTAGCCAAAGATAACTT ENST00000585558.1 + 4 1305_1320 c.917_932delTAGCCAAAGATAACTT c.(916-933)gtagccaaagataactttfs p.VAKDNF306fs KCNJ16_ENST00000589377.1_Frame_Shift_Del_p.VAKDNF271fs|KCNJ16_ENST00000586462.1_Frame_Shift_Del_p.VAKDNF310fs|KCNJ16_ENST00000392670.1_Frame_Shift_Del_p.VAKDNF271fs|KCNJ16_ENST00000392671.1_Frame_Shift_Del_p.VAKDNF271fs|KCNJ16_ENST00000283936.1_Frame_Shift_Del_p.VAKDNF271fs Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 271 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity p.D274Y(1) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CGCAAAGCAGTAGCCAAAGATAACTTTGAGATTTTG 0.449 10 139 --- --- --- --- ANKRD20A11P 391267 broad.mit.edu 37 21 15347257 15347258 + RNA INS - - A rs80199214 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr21:15347257_15347258insA ENST00000344693.5 - 0 736 NR_027270.1 ACCCTGCACAGAAAAAAAGTTG 0.307 2 4 --- --- --- ---