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 MTERFD2 130916 broad.mit.edu 37 2 242038854 242038854 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:242038854C>G ENST00000391980.2 - 2 535 c.477G>C c.(475-477)atG>atC p.M159I MTERFD2_ENST00000495694.1_Missense_Mutation_p.M159I|MTERFD2_ENST00000407095.3_Missense_Mutation_p.M159I|MTERFD2_ENST00000406593.1_Intron NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 159 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) AGCGCTTCCTCATTTGCATAA 0.458000 19 77 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39739591 39739591 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:39739591C>T ENST00000167586.6 - 6 1256 c.1170G>A c.(1168-1170)gaG>gaA p.E390E NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 390 Coil 2.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) GCTGCTCCATCTCGCAGCGGA 0.637000 15 69 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102114 22102114 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:22102114C>T ENST00000542433.1 - 1 982 c.885G>A c.(883-885)ctG>ctA p.L295L NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 295 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CCTGGTTCCTCAGTGTATAGA 0.478000 6 82 0 0 1 0 0 MTERFD2 130916 broad.mit.edu 37 2 242038896 242038896 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:242038896C>G ENST00000391980.2 - 2 493 c.435G>C c.(433-435)ttG>ttC p.L145F MTERFD2_ENST00000495694.1_Missense_Mutation_p.L145F|MTERFD2_ENST00000407095.3_Missense_Mutation_p.L145F|MTERFD2_ENST00000406593.1_Intron NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 145 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) GACTTTTCTTCAAGACCACAC 0.463000 19 82 0 0 1 0 0 RB1 5925 broad.mit.edu 37 13 48936983 48936983 + Nonsense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr13:48936983C>T ENST00000267163.4 + 8 889 c.751C>T c.(751-753)Cga>Tga p.R251* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 251 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(6)|p.R251*(5) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGGTTCACCTCGAACACCCAG 0.343000 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 19 36 0 0 1 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766223 171766223 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr5:171766223G>A ENST00000311601.5 - 13 2056 c.1886C>T c.(1885-1887)gCc>gTc p.A629V SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 629 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTGGGGAGTGGCATCTGGCTT 0.567000 4 109 0 0 1 0 0 B3GNT8 374907 broad.mit.edu 37 19 41931603 41931603 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:41931603C>T ENST00000321702.2 - 3 1534 c.1081G>A c.(1081-1083)Gac>Aac p.D361N CTC-435M10.6_ENST00000598887.1_RNA NM_198540.2 NP_940942.1 Q7Z7M8 B3GN8_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 361 poly-N-acetyllactosamine biosynthetic process|protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2) 11 GCAGTGCGGTCTGCTGGCCAG 0.657000 14 68 0 0 1 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298763 125298763 + Missense_Mutation SNP A A G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:125298763A>G ENST00000538699.1 - 2 1225 c.1145T>C c.(1144-1146)tTc>tCc p.F382S DCAF12L2_ENST00000360028.2_Missense_Mutation_p.F382S NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 382 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 CTCCTCCAGGAACTTCTGGGC 0.632000 5 140 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62989911 62989911 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr15:62989911C>T ENST00000561311.1 + 14 1547 c.1317C>T c.(1315-1317)ttC>ttT p.F439F TLN2_ENST00000306829.6_Silent_p.F439F Q9Y4G6 TLN2_HUMAN talin 2 439 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 AGCAGCAGTTCAACCGGACCG 0.617000 6 178 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67993164 67993164 + Silent SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:67993164G>A ENST00000397942.3 + 2 1576 c.1260G>A c.(1258-1260)ttG>ttA p.L420L SOCS6_ENST00000582322.1_Silent_p.L420L NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 420 SH2. defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TTTTAAGCTTGAGCTTTCGCT 0.463000 17 71 0 0 1 0 0 KIF16B 55614 broad.mit.edu 37 20 16347835 16347835 + Nonsense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr20:16347835G>A ENST00000408042.1 - 23 4292 c.4135C>T c.(4135-4137)Caa>Taa p.Q1379* KIF16B_ENST00000378003.2_Intron|KIF16B_ENST00000354981.2_Intron|KIF16B_ENST00000355755.3_Intron NM_001199866.1 NP_001186795.1 Q96L93 KI16B_HUMAN kinesin family member 16B 0 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2) 74 GCCTCATCTTGAGAATTGAAA 0.408000 7 39 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53358331 53358331 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:53358331G>A ENST00000566029.1 + 39 8379 c.8170G>A c.(8170-8172)Gaa>Aaa p.E2724K CHD9_ENST00000564845.1_Missense_Mutation_p.E2724K|CHD9_ENST00000447540.1_Missense_Mutation_p.E2725K|CHD9_ENST00000398510.3_Missense_Mutation_p.E2740K Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2740 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) ATCTGGGACAGAAGACAAAAA 0.478000 15 42 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72338069 72338069 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:72338069C>T ENST00000389916.4 + 3 313 c.175C>T c.(175-177)Cgc>Tgc p.R59C NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 59 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 GCGGGCGCATCGCTCCCGGGA 0.667000 25 165 0 0 1 0 0 SERPINA3 12 broad.mit.edu 37 14 95088735 95088735 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:95088735C>T ENST00000553947.1 + 7 1938 c.1050C>T c.(1048-1050)aaC>aaT p.N350N SERPINA3_ENST00000467132.1_Silent_p.N325N|SERPINA3_ENST00000393078.3_Silent_p.N325N|SERPINA3_ENST00000393080.4_Silent_p.N325N|SERPINA3_ENST00000556388.1_3'UTR|SERPINA3_ENST00000482740.1_Silent_p.N107N P01011 AACT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 325 acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis extracellular region|nucleus DNA binding|protein binding|serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1) 40 all_cancers(154;0.0525)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228) ATAACCTGAACGACATACTTC 0.498000 7 69 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21461945 21461945 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:21461945G>A ENST00000313654.9 + 40 5399 c.5158G>A c.(5158-5160)Gag>Aag p.E1720K LAMA3_ENST00000399516.3_Missense_Mutation_p.E1720K|LAMA3_ENST00000587184.1_Missense_Mutation_p.E111K|LAMA3_ENST00000269217.6_Missense_Mutation_p.E111K NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1720 Domain III A.|Laminin EGF-like 13. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACGCTGCCAGGAGGGCTACTA 0.572000 15 53 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5395094 5395094 + Missense_Mutation SNP G G A rs147930423 TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:5395094G>A ENST00000341928.2 - 21 3465 c.3125C>T c.(3124-3126)aCg>aTg p.T1042M EPB41L3_ENST00000427684.2_Missense_Mutation_p.T339M|EPB41L3_ENST00000544123.1_Missense_Mutation_p.T873M|EPB41L3_ENST00000540638.2_Missense_Mutation_p.T820M|EPB41L3_ENST00000400111.3_Missense_Mutation_p.T820M|EPB41L3_ENST00000342933.3_Missense_Mutation_p.T1042M|EPB41L3_ENST00000542146.1_Missense_Mutation_p.T347M|EPB41L3_ENST00000542652.2_5'UTR NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1042 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TGCATCCCCCGTGATGACTAT 0.448000 5 86 0 0 1 0 0 UBE2E2 7325 broad.mit.edu 37 3 23574161 23574161 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:23574161C>T ENST00000396703.1 + 5 657 c.477C>T c.(475-477)tcC>tcT p.S159S UBE2E2_ENST00000425792.1_Silent_p.S159S NM_152653.3 NP_689866.1 Q96LR5 UB2E2_HUMAN ubiquitin-conjugating enzyme E2E 2 159 ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination nucleolus ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2) 10 TTCTCCTCTCCATCTGCTCAC 0.388000 17 37 0 0 1 0 0 MEOX1 4222 broad.mit.edu 37 17 41738457 41738457 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:41738457G>C ENST00000318579.4 - 1 865 c.446C>G c.(445-447)tCc>tGc p.S149C MEOX1_ENST00000549132.1_Missense_Mutation_p.P120A|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34C|MEOX1_ENST00000329168.3_Missense_Mutation_p.S149C NM_001040002.1|NM_004527.3 NP_001035091.1|NP_004518.1 P50221 MEOX1_HUMAN mesenchyme homeobox 1 149 nucleus sequence-specific DNA binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 8 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) TCTCCGCCTGGATGATTTCTT 0.577000 10 269 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584883 82584883 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:82584883C>G ENST00000423517.2 - 5 5723 c.5386G>C c.(5386-5388)Gaa>Caa p.E1796Q PCLO_ENST00000333891.8_Missense_Mutation_p.E1796Q NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1727 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 TGTTGCTGTTCTATTTCCCTC 0.383000 28 56 0 0 1 0 0 PRDM4 11108 broad.mit.edu 37 12 108128117 108128117 + Nonsense_Mutation SNP G G T rs148191921 TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:108128117G>T ENST00000228437.5 - 12 2735 c.2276C>A c.(2275-2277)tCg>tAg p.S759* NM_012406.3 NP_036538.3 Q9UKN5 PRDM4_HUMAN PR domain containing 4 759 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1) 20 TGGTGCTGACGAACTGGAGGT 0.473000 21 93 2.54575e-18 2.73698e-18 1 1 0 MTPN 136319 broad.mit.edu 37 7 135635385 135635385 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:135635385C>T ENST00000393085.3 - 3 447 c.232G>A c.(232-234)Gag>Aag p.E78K MTPN_ENST00000435723.1_Intron NM_001128619.2|NM_145808.3 NP_001122091.2|NP_665807.1 P58546 MTPN_HUMAN myotrophin 78 cell growth|regulation of striated muscle tissue development|regulation of translation cytoplasm protein binding endometrium(1)|lung(4)|prostate(1) 6 ACATGACCCTCATAGACAGCA 0.338000 6 104 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7796794 7796794 + Missense_Mutation SNP A A C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:7796794A>C ENST00000380358.4 + 5 878 c.877A>C c.(877-879)Ata>Cta p.I293L CHD3_ENST00000358181.4_Missense_Mutation_p.I234L|CHD3_ENST00000330494.7_Missense_Mutation_p.I234L NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 234 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) GGCCACCCCCATAGCACCCTC 0.657000 3 13 0 0 1 0 0 SERBP1 26135 broad.mit.edu 37 1 67885715 67885715 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:67885715G>C ENST00000370994.4 - 6 1024 c.910C>G c.(910-912)Ctt>Gtt p.L304V SERBP1_ENST00000370990.5_Missense_Mutation_p.L319V|SERBP1_ENST00000484880.1_5'UTR|SERBP1_ENST00000361219.6_Missense_Mutation_p.L310V|SERBP1_ENST00000370995.2_Missense_Mutation_p.L325V NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3 NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 325 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2) 13 GATTTATGAAGAACAAATCCC 0.323000 8 49 0 0 1 0 0 EFHC1 114327 broad.mit.edu 37 6 52355018 52355018 + Nonsense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:52355018C>G ENST00000371068.5 + 10 1824 c.1721C>G c.(1720-1722)tCa>tGa p.S574* EFHC1_ENST00000433625.2_Nonsense_Mutation_p.S483*|EFHC1_ENST00000538167.1_Nonsense_Mutation_p.S555* NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 574 EF-hand. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) AAAGATCACTCATGCAAAGAC 0.393000 6 58 0 0 1 0 0 CKAP2L 150468 broad.mit.edu 37 2 113514069 113514069 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:113514069C>G ENST00000541405.1 - 4 907 c.384G>C c.(382-384)aaG>aaC p.K128N CKAP2L_ENST00000302450.6_Missense_Mutation_p.K293N Q8IYA6 CKP2L_HUMAN cytoskeleton associated protein 2-like 293 centrosome p.K293N(1) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 28 CTACTGGTTTCTTTGATGACT 0.398000 17 42 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93226487 93226487 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:93226487C>G ENST00000322349.8 - 11 1319 c.1055G>C c.(1054-1056)aGa>aCa p.R352T NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 352 early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 TGCAGACAATCTTGACTGAAG 0.363000 5 52 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16255380 16255380 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:16255380G>C ENST00000375759.3 + 11 2849 c.2645G>C c.(2644-2646)cGa>cCa p.R882P NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 882 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GTTTTGACTCGAGTGAAAGAG 0.463000 4 175 0 0 1 0 0 C3orf33 285315 broad.mit.edu 37 3 155485381 155485381 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:155485381C>G ENST00000534941.1 - 5 540 c.271G>C c.(271-273)Gag>Cag p.E91Q C3orf33_ENST00000340171.2_Missense_Mutation_p.E134Q NM_173657.1 NP_775928.1 Q96NB5 Q96NB5_HUMAN chromosome 3 open reading frame 33 91 hydrolase activity, acting on ester bonds|nucleic acid binding breast(1)|kidney(1)|large_intestine(3)|lung(3) 8 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GGTTTTAGCTCTTTTTGTAAC 0.418000 5 20 0 0 1 0 0 MAS1 4142 broad.mit.edu 37 6 160328944 160328944 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:160328944C>T ENST00000252660.4 + 1 971 c.957C>T c.(955-957)gtC>gtT p.V319V NM_002377.2 NP_002368.1 P04201 MAS_HUMAN MAS1 oncogene 319 anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade integral to plasma membrane angiotensin type II receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06) GTAATACGGTCACAGTTGAGA 0.403000 11 43 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61511322 61511322 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr20:61511322C>T ENST00000266070.4 - 16 6311 c.5986G>A c.(5986-5988)Gca>Aca p.A1996T DIDO1_ENST00000395343.1_Missense_Mutation_p.A1996T NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1996 Pro-rich. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GAAAAGGGTGCGGACCCCCGT 0.597000 4 144 0 0 1 0 0 MTERFD2 130916 broad.mit.edu 37 2 242038875 242038875 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:242038875C>T ENST00000391980.2 - 2 514 c.456G>A c.(454-456)ttG>ttA p.L152L MTERFD2_ENST00000495694.1_Silent_p.L152L|MTERFD2_ENST00000407095.3_Silent_p.L152L|MTERFD2_ENST00000406593.1_Intron NM_182501.3 NP_872307.2 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 152 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) TAGGCAGTTTCAATAACTGGG 0.463000 22 78 0 0 1 0 0 KCNQ4 9132 broad.mit.edu 37 1 41285102 41285102 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:41285102C>G ENST00000347132.5 + 5 874 c.792C>G c.(790-792)aaC>aaG p.N264K KCNQ4_ENST00000506017.1_3'UTR|KCNQ4_ENST00000509682.2_Missense_Mutation_p.N264K NM_004700.3|NM_172163.2 NP_004691.2|NP_751895.1 P56696 KCNQ4_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 4 264 sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1) 26 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) AGGACGCCAACTCCGACTTCT 0.637000 26 97 0 0 1 0 0 RTKN 6242 broad.mit.edu 37 2 74653396 74653396 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:74653396G>A ENST00000305557.5 - 13 2212 c.1627C>T c.(1627-1629)Cgc>Tgc p.R543C RTKN_ENST00000233330.6_Missense_Mutation_p.R506C|RTKN_ENST00000272430.5_Missense_Mutation_p.R556C NM_033046.2 NP_149035.1 Q9BST9 RTKN_HUMAN rhotekin 556 Pro-rich. apoptosis|regulation of anti-apoptosis|Rho protein signal transduction intracellular GTP binding|GTP-Rho binding|GTPase inhibitor activity endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 16 AGCCAAGTGCGAGGTTGGCCT 0.622000 42 145 0 0 1 0 0 SPON1 10418 broad.mit.edu 37 11 14278223 14278223 + RNA SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:14278223G>A ENST00000310358.7 + 0 1829 Q9HCB6 SPON1_HUMAN spondin 1, extracellular matrix protein cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CCTGGCTCCAGAAGAGAAAGA 0.393000 14 47 0 0 1 0 0 MIR1207 100302175 broad.mit.edu 37 8 129061434 129061434 + RNA SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr8:129061434G>A ENST00000408249.1 + 0 37 NR_031612.1 GGCTGGCTGGGTCTGGTAGTG 0.567000 22 56 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68153966 68153966 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:68153966G>A ENST00000294304.7 + 6 1304 c.1198G>A c.(1198-1200)Gcg>Acg p.A400T NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 400 Beta-propeller 2. A -> E (in OPPG). adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CATCCGCAGGGCGTACCTGGA 0.642000 17 61 0 0 1 0 0 TRIM21 6737 broad.mit.edu 37 11 4407008 4407008 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:4407008C>G ENST00000254436.7 - 7 1047 c.935G>C c.(934-936)gGa>gCa p.G312A TRIM21_ENST00000543625.1_Missense_Mutation_p.G312A NM_003141.3 NP_003132.2 P19474 RO52_HUMAN tripartite motif containing 21 312 B30.2/SPRY. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3) 16 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) CTGGGTGTCTCCAAGCCTCAC 0.502000 3 12 0 0 1 0 0 IL17D 53342 broad.mit.edu 37 13 21295937 21295937 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr13:21295937C>T ENST00000304920.3 + 3 561 c.453C>T c.(451-453)ggC>ggT p.G151G NM_138284.1 NP_612141.1 Q8TAD2 IL17D_HUMAN interleukin 17D 151 inflammatory response extracellular space cytokine activity endometrium(1)|skin(1) 2 all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414) CCTGCGCCGGCGGCCGTTCCG 0.706000 19 113 0 0 1 0 0 HMGXB4 10042 broad.mit.edu 37 22 35684398 35684398 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr22:35684398G>C ENST00000216106.5 + 9 1764 c.1636G>C c.(1636-1638)Gag>Cag p.E546Q HMGXB4_ENST00000444518.2_Missense_Mutation_p.E437Q NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 546 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCAGGAAACTGAGGTGAATAC 0.438000 8 30 0 0 1 0 0 DPH3 285381 broad.mit.edu 37 3 16305733 16305733 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:16305733C>T ENST00000488423.1 - 2 207 c.112G>A c.(112-114)Gat>Aat p.D38N DPH3_ENST00000383775.4_Intron|DPH3_ENST00000285082.4_5'UTR NM_206831.2 NP_996662.1 Q96FX2 DPH3_HUMAN diphthamide biosynthesis 3 38 negative regulation of protein secretion|peptidyl-diphthamide biosynthetic process from peptidyl-histidine|positive regulation of binding cytoplasm|nucleus metal ion binding|protein binding large_intestine(2) 2 TTCTCCAAATCTTCCTACAAC 0.448000 4 17 0 0 1 0 0 ARID4A 5926 broad.mit.edu 37 14 58790207 58790207 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:58790207G>A ENST00000355431.3 + 8 827 c.454G>A c.(454-456)Gaa>Aaa p.E152K ARID4A_ENST00000395168.3_Missense_Mutation_p.E152K|ARID4A_ENST00000348476.3_Missense_Mutation_p.E152K|ARID4A_ENST00000431317.2_Missense_Mutation_p.E152K NM_002892.3 NP_002883.3 P29374 ARI4A_HUMAN AT rich interactive domain 4A (RBP1-like) 152 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTTTAGTACTGAAGATGAAAA 0.328000 11 33 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1488598 1488598 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:1488598C>T ENST00000345913.4 + 9 1660 c.1569C>T c.(1567-1569)ttC>ttT p.F523F TPO_ENST00000382198.1_Silent_p.F350F|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Silent_p.F523F|TPO_ENST00000329066.4_Silent_p.F523F|TPO_ENST00000349624.3_Silent_p.F350F|TPO_ENST00000337415.3_Silent_p.F523F|TPO_ENST00000382201.3_Silent_p.F523F NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 523 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) ACCAGGCTTTCTTCAGCCCAT 0.562000 12 81 0 0 1 0 0 FIG4 9896 broad.mit.edu 37 6 110113840 110113840 + Nonsense_Mutation SNP C C A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:110113840C>A ENST00000230124.3 + 21 2556 c.2432C>A c.(2431-2433)tCa>tAa p.S811* FIG4_ENST00000441478.2_Nonsense_Mutation_p.S534* NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 811 cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) GATGGCCTCTCAGAAGAAGAT 0.318000 10 69 9.70103e-10 1.01905e-09 1 1 0 AFF1 4299 broad.mit.edu 37 4 87967403 87967403 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr4:87967403C>T ENST00000307808.6 + 2 523 c.103C>T c.(103-105)Cct>Tct p.P35S AFF1_ENST00000395146.4_Missense_Mutation_p.P42S|AFF1_ENST00000544085.1_Intron NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 35 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AGAGGCATTTCCTGAAAAGAT 0.418000 30 121 0 0 1 0 0 SLC25A19 60386 broad.mit.edu 37 17 73273537 73273537 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:73273537C>T ENST00000402418.3 - 5 1580 c.671G>A c.(670-672)aGt>aAt p.S224N SLC25A19_ENST00000320362.3_Missense_Mutation_p.S224N|SLC25A19_ENST00000416858.2_Missense_Mutation_p.S224N|SLC25A19_ENST00000375261.4_Missense_Mutation_p.S167N|SLC25A19_ENST00000442286.2_Missense_Mutation_p.S224N|SLC25A19_ENST00000580994.1_Missense_Mutation_p.S224N Q9HC21 TPC_HUMAN solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 224 integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) ACCAGCTCCACTGCCACAAAG 0.517000 22 48 0 0 1 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18637573 18637573 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:18637573C>T ENST00000336349.5 - 3 483 c.248G>A c.(247-249)aGa>aAa p.R83K SPTY2D1_ENST00000543776.1_5'UTR NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 83 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 GGCCATAGCTCTTGCTTTCTT 0.403000 6 61 0 0 1 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37534656 37534656 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr20:37534656C>T ENST00000299824.1 + 7 930 c.741C>T c.(739-741)ctC>ctT p.L247L PPP1R16B_ENST00000373331.2_Intron NM_015568.2 NP_056383.1 Q96T49 PP16B_HUMAN protein phosphatase 1, regulatory subunit 16B 247 regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 49 Myeloproliferative disorder(115;0.00878) CAGCTGAGCTCCTCCTGGACC 0.597000 25 41 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42373213 42373213 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr15:42373213C>T ENST00000290472.3 - 12 1170 c.1076G>A c.(1075-1077)gGc>gAc p.G359D NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 359 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) GCCAGAGATGCCACTGAAGTA 0.607000 11 33 0 0 1 0 0 ZNF416 55659 broad.mit.edu 37 19 58084885 58084885 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:58084885C>G ENST00000196489.3 - 4 609 c.387G>C c.(385-387)ttG>ttC p.L129F NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 129 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) ATGCCCCAGTCAAGTATAGTT 0.517000 3 28 0 0 1 0 0 MIA3 375056 broad.mit.edu 37 1 222802495 222802495 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:222802495G>A ENST00000344922.5 + 4 1958 c.1933G>A c.(1933-1935)Gaa>Aaa p.E645K MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.E645K NM_198551.2 NP_940953.2 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 645 exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1) 80 GBM - Glioblastoma multiforme(131;0.0199) CAGAGAACTGGAAGACGAGGT 0.448000 7 116 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27730604 27730604 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:27730604C>T ENST00000264717.2 + 14 1263 c.1200C>T c.(1198-1200)ctC>ctT p.L400L GCKR_ENST00000424318.2_Silent_p.L210L NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 400 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TTCCCTCTCTCACGGAAATCG 0.547000 10 50 0 0 1 0 0 ATP1A4 480 broad.mit.edu 37 1 160143991 160143991 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:160143991C>T ENST00000368081.4 + 14 2553 c.2082C>T c.(2080-2082)atC>atT p.I694I ATP1A4_ENST00000418334.1_3'UTR NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 694 ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) accctgagatcgtgtttgctc 0.527000 24 39 0 0 1 0 0 CACNA1H 8912 broad.mit.edu 37 16 1246017 1246017 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:1246017G>A ENST00000348261.5 + 5 885 c.637G>A c.(637-639)Gtg>Atg p.V213M CACNA1H_ENST00000358590.4_Missense_Mutation_p.V213M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V213M NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 213 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) CATCAACCGCGTGCCTAGTAA 0.652000 25 47 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94544910 94544910 + Missense_Mutation SNP C C A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:94544910C>A ENST00000370225.3 - 9 1293 c.1207G>T c.(1207-1209)Gat>Tat p.D403Y ABCA4_ENST00000535735.1_Missense_Mutation_p.D403Y NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 403 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GCAGGTGAATCAGGAGTGTAC 0.493000 25 63 7.07758e-08 7.36712e-08 1 1 0 PRG4 10216 broad.mit.edu 37 1 186276382 186276382 + Missense_Mutation SNP A A C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:186276382A>C ENST00000445192.2 + 7 1576 c.1531A>C c.(1531-1533)Acc>Ccc p.T511P PRG4_ENST00000367483.4_Missense_Mutation_p.T470P|PRG4_ENST00000367485.4_Missense_Mutation_p.T418P|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.T468P NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 511 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 ACCCACCACCACCAAGGAGCC 0.637000 12 179 0 0 1 0 0 GPATCH3 63906 broad.mit.edu 37 1 27224089 27224089 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:27224089C>T ENST00000361720.5 - 2 602 c.579G>A c.(577-579)ggG>ggA p.G193G NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 193 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) TCCCCACATTCCCTCTGGGCA 0.602000 12 50 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16258490 16258490 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:16258490C>T ENST00000375759.3 + 11 5959 c.5755C>T c.(5755-5757)Cct>Tct p.P1919S NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1919 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AAACCGCTCTCCTGTCAAAGA 0.562000 4 115 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177084360 177084360 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr4:177084360G>C ENST00000393643.2 + 22 3158 c.2906G>C c.(2905-2907)gGc>gCc p.G969A WDR17_ENST00000508596.1_Missense_Mutation_p.G969A|WDR17_ENST00000280190.4_Missense_Mutation_p.G993A|WDR17_ENST00000507824.2_Missense_Mutation_p.G976A NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 993 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) GTCTGTGTGGGCACAGTACTA 0.433000 15 45 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107555499 107555499 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr9:107555499G>C ENST00000374736.3 - 41 5983 c.5589C>G c.(5587-5589)ttC>ttG p.F1863L NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1863 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAATGAGGAAGAACACCACCC 0.517000 7 104 0 0 1 0 0 MED29 55588 broad.mit.edu 37 19 39883109 39883109 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:39883109G>C ENST00000315588.5 + 2 334 c.285G>C c.(283-285)ttG>ttC p.L95F MED29_ENST00000599213.2_Missense_Mutation_p.L74F|MED29_ENST00000594368.1_Missense_Mutation_p.L74F NM_017592.1 NP_060062.1 Q9NX70 MED29_HUMAN mediator complex subunit 29 74 regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex protein binding lung(2)|ovary(1)|pancreas(1) 4 all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) ACTAGACCTTGATGAAGGTTG 0.433000 6 32 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11500389 11500389 + Nonsense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:11500389C>T ENST00000423059.3 - 11 2756 c.2505G>A c.(2503-2505)tgG>tgA p.W835* AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 835 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TGTGAGTCTTCCACCTACAAG 0.532000 HNSCC(18;0.044) 5 13 0 0 1 0 0 PHLDA1 22822 broad.mit.edu 37 12 76424831 76424831 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:76424831C>T ENST00000266671.5 - 1 2881 c.691G>A c.(691-693)Gaa>Aaa p.E231K RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.E90K Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, member 1 231 PH. apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 14 Colorectal(145;0.09) AAGTGCAGTTCCTTGAGCTTG 0.627000 7 79 0 0 1 0 0 GRK7 131890 broad.mit.edu 37 3 141497652 141497652 + Missense_Mutation SNP C C A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:141497652C>A ENST00000264952.2 + 1 663 c.526C>A c.(526-528)Ctg>Atg p.L176M NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 176 RGS. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CGACAAGTTTCTGCAGTGGAA 0.532000 14 85 6.31663e-08 6.60506e-08 1 1 0 SYNJ2BP 55333 broad.mit.edu 37 14 70855193 70855193 + Silent SNP G G T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:70855193G>T ENST00000256366.4 - 2 276 c.195C>A c.(193-195)atC>atA p.I65I SYNJ2BP_ENST00000554216.1_Intron|RP11-718G2.3_ENST00000555276.1_RNA NM_018373.2 NP_060843.2 synaptojanin 2 binding protein central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377) TCACCGAAAGGATCTTATCAC 0.542000 7 26 1.06961e-07 1.10833e-07 1 1 0 PKDREJ 10343 broad.mit.edu 37 22 46658489 46658489 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr22:46658489G>A ENST00000253255.5 - 1 730 c.731C>T c.(730-732)tCg>tTg p.S244L NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 244 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CAGCTGCACCGAGGCGTTGAT 0.697000 8 39 0 0 1 0 0 PRUNE 58497 broad.mit.edu 37 1 150997133 150997133 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:150997133C>G ENST00000271620.3 + 4 538 c.382C>G c.(382-384)Cga>Gga p.R128G PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000368936.1_5'UTR|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368935.1_Intron NM_021222.1 NP_067045.1 Q86TP1 PRUNE_HUMAN prune exopolyphosphatase 128 cytoplasm|focal adhesion|nucleus inorganic diphosphatase activity|manganese ion binding|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCTAGACCATCGACCCATCGA 0.577000 OREG0013792 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 64 0 0 1 0 0 SYK 6850 broad.mit.edu 37 9 93650884 93650884 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr9:93650884C>T ENST00000375754.4 + 13 1958 c.1810C>T c.(1810-1812)Ctc>Ttc p.L604F SYK_ENST00000375746.1_Missense_Mutation_p.L604F|SYK_ENST00000375747.1_Missense_Mutation_p.L581F|SYK_ENST00000375751.4_Missense_Mutation_p.L581F NM_003177.5 NP_003168.2 P43405 KSYK_HUMAN spleen tyrosine kinase 604 Protein kinase. cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly cytosol|T cell receptor complex ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2) 26 GATGTACGATCTCATGAATCT 0.473000 T """ETV6, ITK""" """MDS, peripheral T-cell lymphoma""" 6 8 0 0 1 0 0 TMCC1 23023 broad.mit.edu 37 3 129389575 129389575 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:129389575C>T ENST00000393238.3 - 4 1449 c.1109G>A c.(1108-1110)aGa>aAa p.R370K TMCC1_ENST00000329333.5_Missense_Mutation_p.R191K|TMCC1_ENST00000426664.2_Missense_Mutation_p.R256K|TMCC1_ENST00000432054.2_Missense_Mutation_p.R46K NM_001017395.3 NP_001017395.2 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 370 integral to membrane PLXND1/TMCC1(4) breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1) 25 GGCAATCTCTCTGGGCTTTGA 0.527000 4 61 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67991962 67991962 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:67991962G>C ENST00000397942.3 + 2 374 c.58G>C c.(58-60)Gaa>Caa p.E20Q SOCS6_ENST00000582322.1_Missense_Mutation_p.E20Q NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 20 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TAAAAGTAAAGAAGAAACTGA 0.343000 7 53 0 0 1 0 0 HNRNPR 10236 broad.mit.edu 37 1 23645146 23645146 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:23645146C>T ENST00000478691.1 - 7 824 c.553G>A c.(553-555)Gat>Aat p.D185N HNRNPR_ENST00000374612.1_Missense_Mutation_p.D283N|HNRNPR_ENST00000374616.3_Missense_Mutation_p.D286N|HNRNPR_ENST00000427764.2_Missense_Mutation_p.D245N|HNRNPR_ENST00000302271.6_Missense_Mutation_p.D283N|HNRNPR_ENST00000426846.2_Missense_Mutation_p.D123N|HNRNPR_ENST00000606561.1_Missense_Mutation_p.D144N NM_001102397.1|NM_001102399.1 NP_001095867.1|NP_001095869.1 O43390 HNRPR_HUMAN heterogeneous nuclear ribonucleoprotein R 283 RRM 1. catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19) TTTTTGTCATCGGGTTGATGA 0.453000 15 47 0 0 1 0 0 FOS 2353 broad.mit.edu 37 14 75748023 75748023 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:75748023G>A ENST00000303562.4 + 4 1248 c.1039G>A c.(1039-1041)Gag>Aag p.E347K FOS_ENST00000535987.1_Missense_Mutation_p.E311K|FOS_ENST00000555347.1_Missense_Mutation_p.E199K|FOS_ENST00000555686.1_Missense_Mutation_p.E233K NM_005252.3 NP_005243.1 P01100 FOS_HUMAN FBJ murine osteosarcoma viral oncogene homolog 347 cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112) BRCA - Breast invasive adenocarcinoma(234;0.0117) CACCTACCCCGAGGCTGACTC 0.642000 27 112 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76187031 76187031 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:76187031C>T ENST00000298832.9 + 12 1232 c.1027C>T c.(1027-1029)Cgc>Tgc p.R343C TTLL5_ENST00000557636.1_Missense_Mutation_p.R343C|TTLL5_ENST00000555422.1_Intron NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 343 TTL. protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) TGTTCCTCATCGCAGCAGTTG 0.428000 34 110 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26493217 26493217 + Silent SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:26493217G>A ENST00000381340.3 - 56 8318 c.7902C>T c.(7900-7902)ctC>ctT p.L2634L RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2634 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CATTGCTAACGAGGGACATGG 0.478000 5 41 0 0 1 0 0 IMMT 10989 broad.mit.edu 37 2 86371871 86371871 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:86371871G>C ENST00000410111.3 - 15 2184 c.1797C>G c.(1795-1797)atC>atG p.I599M IMMT_ENST00000409051.2_Missense_Mutation_p.I552M|IMMT_ENST00000254636.5_Missense_Mutation_p.I500M|IMMT_ENST00000449247.2_Missense_Mutation_p.I588M|IMMT_ENST00000442664.2_Missense_Mutation_p.I598M NM_001100169.1|NM_001100170.1|NM_006839.2 NP_001093639.1|NP_001093640.1|NP_006830.2 Q16891 IMMT_HUMAN inner membrane protein, mitochondrial 599 integral to mitochondrial inner membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 AGTTGGCTTTGATGGCCTCAA 0.507000 5 77 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40704287 40704287 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:40704287G>A ENST00000298910.7 + 31 4430 c.4372G>A c.(4372-4374)Gat>Aat p.D1458N NM_198578.3 NP_940980.3 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1458 Roc. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GGATGTTTCTGATGAGAAGCA 0.478000 27 81 0 0 1 0 0 TRIM16L 147166 broad.mit.edu 37 17 18635351 18635351 + Splice_Site SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:18635351G>C ENST00000449552.2 + 6 1851 c.e6-1 TRIM16L_ENST00000572555.1_Splice_Site|TRIM16L_ENST00000395672.2_Splice_Site|TRIM16L_ENST00000571708.1_Splice_Site|TRIM16L_ENST00000395902.3_Splice_Site|TRIM16L_ENST00000395671.4_Splice_Site|TRIM16L_ENST00000414850.2_Intron Q309B1 TR16L_HUMAN tripartite motif containing 16-like cytoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5) 9 TGATTTTCTAGAGGAGTATGA 0.498000 11 45 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208224401 208224401 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:208224401G>C ENST00000367033.3 - 17 3965 c.3208C>G c.(3208-3210)Cag>Gag p.Q1070E NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 1070 IPT/TIG 3. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) CTTGGCTCCTGAATGACATCC 0.493000 14 71 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992019 67992019 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:67992019G>C ENST00000397942.3 + 2 431 c.115G>C c.(115-117)Gat>Cat p.D39H SOCS6_ENST00000582322.1_Missense_Mutation_p.D39H NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 39 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) CTTTGGAAAAGATGATTCCTT 0.373000 13 76 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82584766 82584766 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:82584766C>G ENST00000423517.2 - 5 5840 c.5503G>C c.(5503-5505)Gat>Cat p.D1835H PCLO_ENST00000333891.8_Missense_Mutation_p.D1835H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1766 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GGAGATGCATCTTCAATGGGA 0.433000 53 125 0 0 1 0 0 TNFRSF25 8718 broad.mit.edu 37 1 6522208 6522208 + Silent SNP G G A rs34221914 byFrequency TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:6522208G>A ENST00000377782.3 - 9 865 c.798C>T c.(796-798)agC>agT p.S266S TNFRSF25_ENST00000356876.3_Silent_p.S257S|TNFRSF25_ENST00000351748.3_Silent_p.S74S|TNFRSF25_ENST00000348333.3_Silent_p.S212S|TNFRSF25_ENST00000351959.5_Silent_p.S220S NM_148965.1 NP_683866.1 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, member 25 257 apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1) 10 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) GGGTGTGGGCGCTGTCCAAGG 0.632000 4 145 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39740128 39740128 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:39740128C>T ENST00000167586.6 - 4 897 c.811G>A c.(811-813)Gag>Aag p.E271K NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 271 Linker 12.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) GCGTCCATCTCCACATTGACA 0.577000 22 139 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47425031 47425031 + Silent SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:47425031G>A ENST00000404338.3 + 1 3099 c.3099G>A c.(3097-3099)ctG>ctA p.L1033L NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1033 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity AGAGTAAACTGAACAACAAAG 0.433000 10 51 0 0 1 0 0 SLTM 79811 broad.mit.edu 37 15 59192011 59192011 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr15:59192011C>T ENST00000380516.2 - 7 802 c.715G>A c.(715-717)Gag>Aag p.E239K SLTM_ENST00000536328.1_Intron NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 239 Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TTGTCATCCTCAGCTTCTTTC 0.443000 13 56 0 0 1 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656466 40656466 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:40656466C>G ENST00000406785.1 - 2 1144 c.955G>C c.(955-957)Gat>Cat p.D319H SLC8A1_ENST00000542756.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D319H|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D319H|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D319H|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D319H|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D319H P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 1 319 cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2) 100 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GCTTCTTCATCATCTTGGTCC 0.398000 7 130 0 0 1 0 0 PDE7A 5150 broad.mit.edu 37 8 66639126 66639126 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr8:66639126G>C ENST00000401827.3 - 9 1347 c.904C>G c.(904-906)Ctg>Gtg p.L302V PDE7A_ENST00000379419.4_Missense_Mutation_p.L276V|PDE7A_ENST00000396642.3_Missense_Mutation_p.L302V NM_001242318.2 NP_001229247.1 Q13946 PDE7A_HUMAN phosphodiesterase 7A 302 Catalytic (By similarity). cell fraction|cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1) 10 Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238) Dyphylline(DB00651)|Ketotifen(DB00920) TCTAATGGCAGATGTGAGAAT 0.348000 33 80 0 0 1 0 0 AGO4 192670 broad.mit.edu 37 1 36306771 36306771 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:36306771C>T ENST00000373210.3 + 14 1975 c.1730C>T c.(1729-1731)tCg>tTg p.S577L NM_017629.3 NP_060099.2 argonaute RISC catalytic component 4 AGCAGGCCCTCGGTGTTCCAG 0.473000 11 43 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77948830 77948830 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:77948830C>T ENST00000393684.3 - 5 935 c.544G>A c.(544-546)Gag>Aag p.E182K ISM2_ENST00000493585.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.E189K|ISM2_ENST00000412904.1_Missense_Mutation_p.E189K|ISM2_ENST00000342219.4_Missense_Mutation_p.E270K Q6H9L7 ISM2_HUMAN isthmin 2 270 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 tcgtcttcctccttttcctcc 0.552000 16 47 0 0 1 0 0 HMGXB4 10042 broad.mit.edu 37 22 35684359 35684359 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr22:35684359G>C ENST00000216106.5 + 9 1725 c.1597G>C c.(1597-1599)Gag>Cag p.E533Q HMGXB4_ENST00000444518.2_Missense_Mutation_p.E424Q NM_001003681.2 NP_001003681.1 Q9UGU5 HMGX4_HUMAN HMG box domain containing 4 533 endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway NURF complex DNA binding breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCTGTTGGGAGAGTCCCTAAG 0.493000 14 44 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65022083 65022083 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:65022083C>G ENST00000394156.3 - 7 1429 c.976G>C c.(976-978)Gag>Cag p.E326Q CDH11_ENST00000566827.1_Missense_Mutation_p.E200Q|CDH11_ENST00000268603.4_Missense_Mutation_p.E326Q P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 326 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) ATCACCCCCTCCTGTGTTTCA 0.443000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 22 93 0 0 1 0 0 C7orf55-LUC7L2 100996928 broad.mit.edu 37 7 139106952 139106952 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:139106952G>A ENST00000354926.4 + 10 1399 c.1045G>A c.(1045-1047)Gac>Aac p.D349N C7orf55-LUC7L2_ENST00000541170.3_Missense_Mutation_p.D346N|C7orf55-LUC7L2_ENST00000482860.1_3'UTR|C7orf55-LUC7L2_ENST00000263545.6_Missense_Mutation_p.D348N|LUC7L2_ENST00000541515.3_Missense_Mutation_p.D415N NM_016019.3 NP_057103.2 AGCATCATGTGACAGAGACAG 0.408000 29 62 0 0 1 0 0 SNHG10 283596 broad.mit.edu 37 14 95999834 95999834 + RNA SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:95999834C>T ENST00000500370.2 - 0 766 SCARNA13_ENST00000516672.1_RNA|SNHG10_ENST00000553559.1_RNA|SNHG10_ENST00000555866.1_RNA|SNHG10_ENST00000554169.1_RNA CAGAAACTATCAGAGGAAAAT 0.483000 9 146 0 0 1 0 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32122955 32122955 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:32122955C>T ENST00000422437.1 + 3 523 c.332C>T c.(331-333)tCg>tTg p.S111L PPT2_ENST00000324816.6_Missense_Mutation_p.S111L|PPT2_ENST00000361568.2_Missense_Mutation_p.S117L|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000375143.2_Missense_Mutation_p.S111L|PPT2_ENST00000437001.2_Intron|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000445576.2_Missense_Mutation_p.S111L|PPT2_ENST00000395523.1_Missense_Mutation_p.S111L|PPT2_ENST00000375137.2_Missense_Mutation_p.S111L ATCTGCTACTCGCAGGGTAGG 0.572000 12 36 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153077603 153077603 + Splice_Site SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr5:153077603G>A ENST00000285900.5 + 9 1477 c.e9-1 GRIA1_ENST00000518783.1_Splice_Site|GRIA1_ENST00000340592.5_Splice_Site|GRIA1_ENST00000521843.2_Splice_Site|GRIA1_ENST00000518142.1_Splice_Site|GRIA1_ENST00000448073.4_Splice_Site NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|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|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTCATTAACAGATTGGTTACT 0.507000 6 31 0 0 1 0 0 ISY1 57461 broad.mit.edu 37 3 128853674 128853674 + Missense_Mutation SNP C C A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:128853674C>A ENST00000393292.3 - 8 603 c.542G>T c.(541-543)cGt>cTt p.R181L ISY1_ENST00000393295.3_Splice_Site|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000273541.8_Splice_Site|ISY1-RAB43_ENST00000418265.1_Splice_Site ISY1 splicing factor homolog (S. cerevisiae) endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1) 15 CAGAGACCTACGTTTCTTTTC 0.388000 32 67 1.62565e-12 1.72349e-12 1 1 0 ADCY4 196883 broad.mit.edu 37 14 24789035 24789035 + Silent SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:24789035G>A ENST00000310677.4 - 22 2759 c.2646C>T c.(2644-2646)ttC>ttT p.F882F ADCY4_ENST00000418030.2_Silent_p.F882F|ADCY4_ENST00000554068.2_Silent_p.F882F NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 882 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) AGAACTCCTTGAAGTCTGGGA 0.478000 7 50 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101648654 101648654 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr10:101648654C>T ENST00000342239.3 - 12 3376 c.3285G>A c.(3283-3285)gaG>gaA p.E1095E DNMBP_ENST00000543621.1_Silent_p.E317E|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000540316.1_Silent_p.E7E|DNMBP_ENST00000324109.4_Silent_p.E1071E Q6XZF7 DNMBP_HUMAN dynamin binding protein 1071 BAR. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GGTGTCCTCTCTCCATGCACA 0.498000 11 35 0 0 1 0 0 KRBA2 124751 broad.mit.edu 37 17 8272706 8272706 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:8272706C>G ENST00000396267.1 - 2 1810 c.979G>C c.(979-981)Gag>Cag p.E327Q KRBA2_ENST00000331336.2_Missense_Mutation_p.E409Q|RP11-849F2.7_ENST00000582471.1_3'UTR|RP11-849F2.5_ENST00000580537.1_RNA|RP11-849F2.5_ENST00000583963.1_RNA Q6ZNG9 KRBA2_HUMAN KRAB-A domain containing 2 409 Integrase catalytic. DNA integration|regulation of transcription, DNA-dependent intracellular DNA binding endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1) 18 AACATTGCCTCAAATGGACTT 0.468000 16 67 0 0 1 0 0 RAI2 10742 broad.mit.edu 37 X 17818621 17818621 + Missense_Mutation SNP T T G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:17818621T>G ENST00000545871.1 - 3 1970 c.1510A>C c.(1510-1512)Aag>Cag p.K504Q RAI2_ENST00000451717.1_Missense_Mutation_p.K504Q|RAI2_ENST00000415486.3_Missense_Mutation_p.K454Q|RAI2_ENST00000360011.1_Missense_Mutation_p.K504Q|RAI2_ENST00000331511.1_Missense_Mutation_p.K504Q NM_001172739.1|NM_001172743.1 NP_001166210.1|NP_001166214.1 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 504 embryo development breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1) 22 Hepatocellular(33;0.183) TTCTTTAACTTTATGCTCCGG 0.438000 132 359 0 0 1 0 0 TRIM55 84675 broad.mit.edu 37 8 67062613 67062613 + Missense_Mutation SNP A A T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr8:67062613A>T ENST00000315962.4 + 7 1270 c.897A>T c.(895-897)aaA>aaT p.K299N TRIM55_ENST00000276573.7_Missense_Mutation_p.K299N|TRIM55_ENST00000353317.5_Missense_Mutation_p.K299N|TRIM55_ENST00000350034.4_Intron NM_184085.1 NP_908973.1 Q9BYV6 TRI55_HUMAN tripartite motif containing 55 299 COS. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) AGATGGAGAAAATAGAACATG 0.378000 14 52 0 0 1 0 0 FAM193A 8603 broad.mit.edu 37 4 2696680 2696680 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr4:2696680G>A ENST00000324666.5 + 15 2578 c.2227G>A c.(2227-2229)Gac>Aac p.D743N FAM193A_ENST00000505311.1_Missense_Mutation_p.D743N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D743N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D743N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D765N NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 743 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 CAGTGACCCTGACTGCGAAGG 0.582000 3 18 0 0 1 0 0 SYMPK 8189 broad.mit.edu 37 19 46331129 46331129 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:46331129G>A ENST00000245934.7 - 15 2277 c.2033C>T c.(2032-2034)gCc>gTc p.A678V NM_004819.2 NP_004810.2 Q92797 SYMPK_HUMAN symplekin 678 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding p.A678V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1) 45 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) CACCTCCAGGGCACTCTCTGT 0.652000 4 190 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58318283 58318283 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr20:58318283G>C ENST00000371015.1 + 2 707 c.240G>C c.(238-240)tgG>tgC p.W80C PHACTR3_ENST00000361300.4_Missense_Mutation_p.W39C|PHACTR3_ENST00000395636.2_Missense_Mutation_p.W39C|PHACTR3_ENST00000395639.4_Missense_Mutation_p.W39C|PHACTR3_ENST00000359926.3_Missense_Mutation_p.W77C|PHACTR3_ENST00000355648.4_Missense_Mutation_p.W39C|PHACTR3_ENST00000541461.1_Missense_Mutation_p.W39C NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 80 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CCTGGAAATGGAGGAAAAAGA 0.562000 8 59 0 0 1 0 0 C17orf70 80233 broad.mit.edu 37 17 79516278 79516278 + Nonsense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:79516278G>A ENST00000537152.1 - 4 1429 c.904C>T c.(904-906)Cag>Tag p.Q302* C17orf70_ENST00000327787.8_Nonsense_Mutation_p.Q453* NM_025161.5 NP_079437.5 Q0VG06 FP100_HUMAN chromosome 17 open reading frame 70 453 DNA repair cytoplasm|intermediate filament cytoskeleton|nucleoplasm DNA binding breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371) TTTATTTTCTGACCTGCACTC 0.607000 4 51 0 0 1 0 0 LRRC47 57470 broad.mit.edu 37 1 3712429 3712429 + Silent SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:3712429G>C ENST00000378251.1 - 1 639 c.612C>G c.(610-612)ctC>ctG p.L204L NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 204 translation phenylalanine-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) CGCTGACCTTGAGCGAGGCCA 0.701000 4 3 0 0 1 0 0 DHX16 8449 broad.mit.edu 37 6 30632611 30632611 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:30632611C>T ENST00000376442.3 - 7 1479 c.1284G>A c.(1282-1284)aaG>aaA p.K428K NM_001164239.1|NM_003587.4 NP_001157711.1|NP_003578.2 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 428 Helicase ATP-binding. mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity kidney(2)|ovary(2) 4 TCTGGGTGGTCTTCCCTGAGC 0.557000 7 74 0 0 1 0 0 LRRC8D 55144 broad.mit.edu 37 1 90399323 90399323 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:90399323G>C ENST00000337338.5 + 3 1103 c.696G>C c.(694-696)caG>caC p.Q232H LRRC8D_ENST00000394593.3_Missense_Mutation_p.Q232H NM_001134479.1 NP_001127951.1 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member D 232 integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1) 29 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) CAGGTGCCCAGACTCTACCAA 0.453000 9 47 0 0 1 0 0 LRRC47 57470 broad.mit.edu 37 1 3712633 3712633 + Silent SNP G G T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:3712633G>T ENST00000378251.1 - 1 435 c.408C>A c.(406-408)ctC>ctA p.L136L NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 136 translation phenylalanine-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GGTTGCCGCTGAGGTTGAGGC 0.736000 4 1 0.184627 0.184627 1 1 0 KIF4B 285643 broad.mit.edu 37 5 154393830 154393830 + Silent SNP A A G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr5:154393830A>G ENST00000435029.4 + 1 571 c.411A>G c.(409-411)aaA>aaG p.K137K NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 137 Kinesin-motor. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TTACTCTGAAAGTGTCTTACT 0.373000 25 68 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163374320 163374320 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:163374320C>T ENST00000332142.5 - 4 911 c.812G>A c.(811-813)cGg>cAg p.R271Q KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R271Q NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 271 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) AGATGCTCTCCGTATACTACA 0.468000 21 31 0 0 1 0 0 NOS2 4843 broad.mit.edu 37 17 26114709 26114709 + Silent SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:26114709G>A ENST00000313735.6 - 5 695 c.462C>T c.(460-462)ttC>ttT p.F154F NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 154 F -> L (in Ref. 4; AAA56666). arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CTTACTCTTTGAAGGAGCCGT 0.527000 8 117 0 0 1 0 0 LUZP4 51213 broad.mit.edu 37 X 114537943 114537943 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:114537943C>T ENST00000371920.3 + 3 309 c.302C>T c.(301-303)tCt>tTt p.S101F LUZP4_ENST00000451986.2_Intron NM_016383.3 NP_057467.1 Q9P127 LUZP4_HUMAN leucine zipper protein 4 101 nucleus endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 14 GGATTCAAGTCTGGACAACAC 0.333000 33 124 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197398707 197398707 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:197398707C>T ENST00000367397.1 + 4 1806 c.948C>T c.(946-948)caC>caT p.H316H CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Silent_p.H911H|CRB1_ENST00000544212.1_Silent_p.H416H|CRB1_ENST00000367399.2_Silent_p.H823H|CRB1_ENST00000367400.3_Silent_p.H935H P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 935 EGF-like 8. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.H935Q(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CGTGTCCTCACGGAGCCCAGT 0.532000 25 38 0 0 1 0 0 MORC4 79710 broad.mit.edu 37 X 106229364 106229364 + Silent SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:106229364G>A ENST00000355610.4 - 4 649 c.375C>T c.(373-375)ttC>ttT p.F125F MORC4_ENST00000535534.1_Intron|MORC4_ENST00000255495.7_Silent_p.F125F NM_001085354.2|NM_024657.4 NP_001078823.1|NP_078933.3 Q8TE76 MORC4_HUMAN MORC family CW-type zinc finger 4 125 ATP binding|zinc ion binding endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 28 AGCCTGACTTGAAACCATTAC 0.433000 37 164 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113345036 113345036 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:113345036G>A ENST00000264852.4 + 24 3121 c.2395G>A c.(2395-2397)Gct>Act p.A799T SIDT1_ENST00000393830.3_Missense_Mutation_p.A804T|SIDT1_ENST00000463226.1_3'UTR NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 799 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 CTTCCTCTCTGCTACTGCTCT 0.463000 7 105 0 0 1 0 0 ANKRD30B 374860 broad.mit.edu 37 18 14822646 14822646 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:14822646G>A ENST00000358984.4 + 26 2536 c.2356G>A c.(2356-2358)Gaa>Aaa p.E786K RP11-1157N2__B.2_ENST00000581117.1_RNA NM_001145029.1 NP_001138501.1 Q9BXX2 AN30B_HUMAN ankyrin repeat domain 30B 871 breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 22 TAAAGCCTTAGAATTGAAGGA 0.284000 3 7 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57111636 57111636 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:57111636C>T ENST00000262510.6 + 42 5150 c.4925C>T c.(4924-4926)tCa>tTa p.S1642L NLRC5_ENST00000539144.1_Missense_Mutation_p.S1613L|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Missense_Mutation_p.S1613L NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1642 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) CACAGCCTCTCAGGGAATAGC 0.647000 21 52 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116340200 116340200 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:116340200C>T ENST00000397752.3 + 2 1262 c.1062C>T c.(1060-1062)gcC>gcT p.A354A MET_ENST00000436117.2_Silent_p.A354A|MET_ENST00000318493.6_Silent_p.A354A NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 354 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) CAGATTCTGCCGAACCAATGG 0.473000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 12 43 0 0 1 0 0 IRAK1 3654 broad.mit.edu 37 X 153283528 153283528 + Nonsense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:153283528G>A ENST00000369980.3 - 7 1005 c.838C>T c.(838-840)Cag>Tag p.Q280* IRAK1_ENST00000429936.2_Nonsense_Mutation_p.Q306*|IRAK1_ENST00000393682.1_Nonsense_Mutation_p.Q306*|IRAK1_ENST00000393687.2_Nonsense_Mutation_p.Q280*|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000369974.2_Nonsense_Mutation_p.Q280* NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 280 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity p.Q280*(2) breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AAGCCGTTCTGAGCACAGTAG 0.602000 12 80 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123811134 123811134 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:123811134G>A ENST00000307033.2 + 1 885 c.811G>A c.(811-813)Gtc>Atc p.V271I NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V271I(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGACAAGGCCGTCTCTGTGCT 0.493000 24 109 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57869285 57869285 + Silent SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:57869285G>C ENST00000393797.2 - 14 1887 c.1695C>G c.(1693-1695)ctC>ctG p.L565L ARHGAP9_ENST00000393791.3_Silent_p.L475L|ARHGAP9_ENST00000430041.2_Silent_p.L291L|ARHGAP9_ENST00000424809.2_Silent_p.L475L|ARHGAP9_ENST00000356411.2_Silent_p.L494L|ARHGAP9_ENST00000550288.1_Silent_p.L554L Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 494 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) GGCGGCTGCTGAGGCGCAGCA 0.731000 4 10 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46658465 46658465 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr22:46658465G>A ENST00000253255.5 - 1 754 c.755C>T c.(754-756)gCg>gTg p.A252V NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 252 REJ. acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GATGGCGCGCGCGGCCGGGCA 0.706000 9 49 0 0 1 0 0 CERS2 29956 broad.mit.edu 37 1 150940946 150940946 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:150940946C>T ENST00000271688.6 - 3 602 c.216G>A c.(214-216)gaG>gaA p.E72E CERS2_ENST00000368954.5_Silent_p.E72E|CERS2_ENST00000561294.1_Silent_p.E72E|CERS2_ENST00000345896.4_5'UTR NM_181746.3 NP_859530.1 Q96G23 CERS2_HUMAN ceramide synthase 2 72 endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity GCCGAGTTTTCTCCTTTATGT 0.562000 5 71 0 0 1 0 0 LRRC47 57470 broad.mit.edu 37 1 3712433 3712433 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:3712433G>A ENST00000378251.1 - 1 635 c.608C>T c.(607-609)tCg>tTg p.S203L NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 203 translation phenylalanine-tRNA ligase activity|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 17 all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21) all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127) Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124) GACCTTGAGCGAGGCCAGGTG 0.701000 4 3 0 0 1 0 0 CDC40 51362 broad.mit.edu 37 6 110514412 110514412 + Missense_Mutation SNP G G T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:110514412G>T ENST00000368932.1 + 3 318 c.217G>T c.(217-219)Gac>Tac p.D73Y CDC40_ENST00000307731.1_Missense_Mutation_p.D73Y|CDC40_ENST00000368930.1_Missense_Mutation_p.D73Y|CDC40_ENST00000368933.1_Missense_Mutation_p.D73Y O60508 PRP17_HUMAN cell division cycle 40 73 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) AGTTCACCTTGACCCTGCCGT 0.338000 11 52 2.27111e-07 2.34272e-07 1 1 0 ABCC2 1244 broad.mit.edu 37 10 101604094 101604094 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr10:101604094G>A ENST00000370449.4 + 28 3972 c.3859G>A c.(3859-3861)Gat>Aat p.D1287N NM_000392.3 NP_000383.1 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 2 1287 apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CTGGGTGACTGATAAGAGGCC 0.527000 20 39 0 0 1 0 0 CYP3A4 1576 broad.mit.edu 37 7 99370264 99370264 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:99370264C>T ENST00000336411.2 - 4 450 c.267G>A c.(265-267)atG>atA p.M89I CYP3A4_ENST00000354593.2_Intron NM_001202855.2|NM_017460.5 NP_001189784.1|NP_059488.2 P08684 CP3A4_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 4 89 alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process cell surface|endoplasmic reticulum membrane|integral to membrane|microsome albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909) CTGTTTTGATCATGTCAGGAT 0.353000 4 120 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111632476 111632476 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:111632476G>A ENST00000431670.2 + 3 2057 c.1646G>A c.(1645-1647)cGg>cAg p.R549Q PHLDB2_ENST00000412622.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000495180.1_Missense_Mutation_p.R135Q|PHLDB2_ENST00000477695.1_Missense_Mutation_p.R549Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R576Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.R549Q NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 549 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 GACCTCACCCGGACTCCTCCA 0.522000 6 208 0 0 1 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 43 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9546591 9546591 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr20:9546591C>T ENST00000378429.3 - 6 1977 c.1431G>A c.(1429-1431)gtG>gtA p.V477V PAK7_ENST00000378423.1_Silent_p.V477V|PAK7_ENST00000353224.5_Silent_p.V477V NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 477 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) CCATTTTCTTCACTGCAACTT 0.458000 50 127 0 0 1 0 0 ZNF546 339327 broad.mit.edu 37 19 40521147 40521147 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:40521147G>C ENST00000347077.4 + 7 2186 c.1970G>C c.(1969-1971)aGa>aCa p.R657T ZNF546_ENST00000600094.1_Missense_Mutation_p.R631T|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R657I(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CAACATCACAGAATTCATACT 0.433000 4 39 0 0 1 0 0 HMG20B 10362 broad.mit.edu 37 19 3578065 3578065 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:3578065G>A ENST00000333651.6 + 9 970 c.895G>A c.(895-897)Gag>Aag p.E299K NM_006339.2 NP_006330.2 Q9P0W2 HM20B_HUMAN high mobility group 20B 299 blood coagulation|cell cycle|chromatin modification chromosome|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity cervix(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) CGCCCAGCACGAGAAGCTCAT 0.706000 5 31 0 0 1 0 0 ENO3 2027 broad.mit.edu 37 17 4858564 4858564 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:4858564C>T ENST00000323997.6 + 7 771 c.639C>T c.(637-639)ttC>ttT p.F213F ENO3_ENST00000518175.1_Silent_p.F213F|ENO3_ENST00000519584.1_Silent_p.F170F NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 213 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 AAGGTGGCTTCGCACCCAACA 0.607000 13 45 0 0 1 0 0 SOGA2 23255 broad.mit.edu 37 18 8828905 8828905 + Splice_Site SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:8828905G>A ENST00000359865.3 + 16 4864 c.e16-1 SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000517570.1_Splice_Site|SOGA2_ENST00000306285.7_Intron|SOGA2_ENST00000400050.3_Splice_Site|SOGA2_ENST00000306329.11_Splice_Site NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 GTTCTGTCCAGAACCAAACTG 0.483000 11 55 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21117520 21117520 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr10:21117520G>C ENST00000377122.4 - 17 2111 c.1715C>G c.(1714-1716)tCt>tGt p.S572C NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 572 regulation of actin filament length actin binding|structural constituent of muscle p.S572F(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 TGCTATGGTAGAATAGTTAGA 0.343000 6 20 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113325692 113325692 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:113325692G>C ENST00000389385.4 + 17 2024 c.1527G>C c.(1525-1527)agG>agC p.R509S RPH3A_ENST00000420983.2_Missense_Mutation_p.R509S|RPH3A_ENST00000551052.1_Missense_Mutation_p.R505S|RPH3A_ENST00000543106.2_Missense_Mutation_p.R509S|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000447659.2_Missense_Mutation_p.R460S|RPH3A_ENST00000548866.1_Missense_Mutation_p.R460S|RPH3A_ENST00000415485.3_Missense_Mutation_p.R509S NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 509 intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) CCAACCAGAGGAAGAATTTCA 0.502000 4 182 0 0 1 0 0 TRPV1 7442 broad.mit.edu 37 17 3494382 3494382 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:3494382C>T ENST00000174621.6 - 3 763 c.474G>A c.(472-474)ctG>ctA p.L158L TRPV1_ENST00000399756.4_Silent_p.L160L|TRPV1_ENST00000576351.1_Silent_p.L160L|SHPK_ENST00000572705.1_Silent_p.L160L|TRPV1_ENST00000425167.2_Silent_p.L160L|TRPV1_ENST00000399759.3_Silent_p.L160L|TRPV1_ENST00000310522.5_Silent_p.L160L|TRPV1_ENST00000571088.1_Silent_p.L160L Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, subfamily V, member 1 160 cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 17 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) GCATGGCTTTCAGCAGACAGG 0.637000 5 16 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183083794 183083794 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:183083794G>C ENST00000258341.4 + 5 1407 c.1150G>C c.(1150-1152)Gag>Cag p.E384Q NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 384 Laminin EGF-like 2. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAGGTGCCGAGAGAACTTCTT 0.512000 6 116 0 0 1 0 0 FCGR2A 2212 broad.mit.edu 37 1 161480678 161480678 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:161480678C>T ENST00000271450.6 + 5 712 c.674C>T c.(673-675)gCg>gTg p.A225V FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Missense_Mutation_p.A224V NM_001136219.1|NM_021642.3 NP_001129691.1|NP_067674.2 P12318 FCG2A_HUMAN Fc fragment of IgG, low affinity IIa, receptor (CD32) 225 integral to membrane|plasma membrane IgG binding|receptor activity autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1) 19 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GTGGTCATTGCGACTGCTGTA 0.502000 67 167 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24789048 24789048 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:24789048G>A ENST00000310677.4 - 22 2746 c.2633C>T c.(2632-2634)tCa>tTa p.S878L ADCY4_ENST00000418030.2_Missense_Mutation_p.S878L|ADCY4_ENST00000554068.2_Missense_Mutation_p.S878L NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 878 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GTCTGGGACTGAGGCGAAGAG 0.493000 6 48 0 0 1 0 0 CAPS 828 broad.mit.edu 37 19 5914728 5914728 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:5914728G>C ENST00000588776.1 + 3 2863 c.496G>C c.(496-498)Gag>Cag p.E166Q CAPS_ENST00000222125.5_Missense_Mutation_p.E80Q|CAPS_ENST00000452990.2_Missense_Mutation_p.E80Q Q13938 CAYP1_HUMAN calcyphosine 80 EF-hand 4. intracellular signal transduction cytoplasm calcium ion binding cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 4 GCTGGATCTGGAGGAGTTCCT 0.677000 4 127 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98563391 98563391 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:98563391G>A ENST00000359863.4 + 48 7237 c.7028G>A c.(7027-7029)cGg>cAg p.R2343Q TRRAP_ENST00000355540.3_Missense_Mutation_p.R2325Q|TRRAP_ENST00000446306.3_Missense_Mutation_p.R2325Q NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2343 Interaction with TP53. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) ATGGAGATGCGGAAGAACTTC 0.527000 11 50 0 0 1 0 0 HSPB8 26353 broad.mit.edu 37 12 119617124 119617124 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:119617124G>A ENST00000281938.2 + 1 678 c.7G>A c.(7-9)Gac>Aac p.D3N NM_014365.2 NP_055180.1 Q9UJY1 HSPB8_HUMAN heat shock 22kDa protein 8 3 cell death|response to heat cytoplasm|nucleus identical protein binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 14 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CACCATGGCTGACGGTCAGAT 0.607000 7 137 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44571799 44571799 + Silent SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:44571799G>A ENST00000289547.4 - 9 2482 c.2427C>T c.(2425-2427)gtC>gtT p.V809V NPC1L1_ENST00000381160.3_Silent_p.V809V|NPC1L1_ENST00000546276.1_Silent_p.V809V NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 809 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CACAGCAGCAGACGTCCAACC 0.652000 30 89 0 0 1 0 0 MAZ 4150 broad.mit.edu 37 16 29818686 29818686 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:29818686C>G ENST00000219782.6 + 2 686 c.580C>G c.(580-582)Ctg>Gtg p.L194V MAZ_ENST00000322945.6_Missense_Mutation_p.L194V|MAZ_ENST00000566906.2_Intron|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000545521.1_Missense_Mutation_p.L171V|MAZ_ENST00000563402.1_Intron NM_001042539.1 NP_001036004.1 P56270 MAZ_HUMAN MYC-associated zinc finger protein (purine-binding transcription factor) 194 regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter nucleus DNA binding|protein binding|RNA binding|zinc ion binding endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 10 CATCTGCGCTCTGTGCGCCAA 0.647000 10 19 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26493171 26493171 + Nonsense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:26493171G>A ENST00000381340.3 - 56 8364 c.7948C>T c.(7948-7950)Cag>Tag p.Q2650* RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2650 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) AACTTCTCCTGAAGGCTCCGA 0.532000 12 68 0 0 1 0 0 EGLN1 54583 broad.mit.edu 37 1 231557041 231557041 + Silent SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:231557041G>A ENST00000366641.3 - 1 3749 c.594C>T c.(592-594)atC>atT p.I198I NM_022051.2 NP_071334.1 Q9GZT9 EGLN1_HUMAN egl-9 family hypoxia-inducible factor 1 198 negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia cytosol iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1) 16 Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244) Vitamin C(DB00126) TGCACGGCACGATGTACTCGA 0.687000 12 21 0 0 1 0 0 ITPA 3704 broad.mit.edu 37 20 3199199 3199199 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr20:3199199C>T ENST00000380113.3 + 6 524 c.332C>T c.(331-333)tCa>tTa p.S111L ITPA_ENST00000483354.1_3'UTR|ITPA_ENST00000455664.1_Missense_Mutation_p.S94L|ITPA_ENST00000399838.3_Missense_Mutation_p.S70L NM_033453.3 NP_258412.1 Q9BY32 ITPA_HUMAN inosine triphosphatase (nucleoside triphosphate pyrophosphatase) 111 nucleotide metabolic process cytoplasm metal ion binding|nucleoside-triphosphate diphosphatase activity|nucleotide binding autonomic_ganglia(1)|large_intestine(3)|ovary(1)|stomach(1) 6 GAGGACAAGTCAGCCTATGCG 0.652000 OREG0025730 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 60 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99037976 99037976 + Nonsense_Mutation SNP G G T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr13:99037976G>T ENST00000376586.2 + 8 1003 c.667G>T c.(667-669)Gag>Tag p.E223* FARP1_ENST00000319562.6_Nonsense_Mutation_p.E223*|FARP1_ENST00000595437.1_Nonsense_Mutation_p.E223* Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 223 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) CCGTCGGCTAGAGATGTATGG 0.488000 19 91 1.2644e-06 1.29842e-06 1 1 0 CSF1R 1436 broad.mit.edu 37 5 149439334 149439334 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr5:149439334C>T ENST00000286301.3 - 15 2352 c.2061G>A c.(2059-2061)ctG>ctA p.L687L NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 687 Protein kinase. 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) GGCCGGGGCTCAGGCTGGGTC 0.577000 7 95 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38114091 38114091 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr21:38114091G>C ENST00000290399.6 + 8 1537 c.924G>C c.(922-924)caG>caC p.Q308H SIM2_ENST00000430056.3_Missense_Mutation_p.Q308H NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 308 PAC. 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 TGTGGGTGCAGAGCTACGCCA 0.582000 6 14 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39739910 39739910 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:39739910C>T ENST00000167586.6 - 5 1032 c.946G>A c.(946-948)Gag>Aag p.E316K NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 316 Coil 2.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) GTGGCCACCTCGCGGTTCAGC 0.587000 24 177 0 0 1 0 0 KRT14 3861 broad.mit.edu 37 17 39740126 39740126 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:39740126C>T ENST00000167586.6 - 4 899 c.813G>A c.(811-813)gaG>gaA p.E271E NM_000526.4 NP_000517.2 P02533 K1C14_HUMAN keratin 14 271 Linker 12.|Rod. epidermis development|hemidesmosome assembly|intermediate filament bundle assembly cytosol|keratin filament|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1) 25 Breast(137;0.000307) CAGCGTCCATCTCCACATTGA 0.572000 20 136 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992445 67992445 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:67992445G>C ENST00000397942.3 + 2 857 c.541G>C c.(541-543)Gag>Cag p.E181Q SOCS6_ENST00000582322.1_Missense_Mutation_p.E181Q NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 181 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) CCTCCAGTCTGAGACCACGTG 0.542000 22 65 0 0 1 0 0 STEAP4 79689 broad.mit.edu 37 7 87908879 87908879 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:87908879C>G ENST00000380079.4 - 5 1315 c.1214G>C c.(1213-1215)aGa>aCa p.R405T AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.R229T|AC003991.3_ENST00000600908.1_RNA NM_001205315.1|NM_024636.3 NP_001192244.1|NP_078912.2 Q687X5 STEA4_HUMAN STEAP family member 4 405 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) GCTGAGGAATCTCTTCCCACC 0.433000 6 28 0 0 1 0 0 PFKL 5211 broad.mit.edu 37 21 45732997 45732997 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr21:45732997C>T ENST00000403390.1 + 6 705 c.705C>T c.(703-705)gtC>gtT p.V235V PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Silent_p.V188V P17858 K6PL_HUMAN phosphofructokinase, liver 188 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 Colorectal(79;0.0811) TCATGGAGGTCATCGATGCCA 0.667000 22 104 0 0 1 0 0 SYT14 255928 broad.mit.edu 37 1 210267850 210267850 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:210267850G>A ENST00000537238.1 + 6 903 c.512G>A c.(511-513)gGa>gAa p.G171E SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Missense_Mutation_p.G209E|SYT14_ENST00000367015.1_Missense_Mutation_p.G171E|SYT14_ENST00000399639.2_Missense_Mutation_p.G209E|SYT14_ENST00000422431.1_Missense_Mutation_p.G254E|SYT14_ENST00000472886.1_Missense_Mutation_p.G209E|SYT14_ENST00000534859.1_Missense_Mutation_p.G209E NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 209 integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) CCAAGTGAAGGAAGCACAGGT 0.418000 4 61 0 0 1 0 0 BFSP2 8419 broad.mit.edu 37 3 133193815 133193815 + Nonstop_Mutation SNP G G T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:133193815G>T ENST00000302334.2 + 7 1336 c.1247G>T c.(1246-1248)tGa>tTa p.*416L NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 0 response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 CCTTTCAGCTGATGGAGAAAC 0.458000 13 108 0.0135373 0.0135967 1 1 0 GCKR 2646 broad.mit.edu 37 2 27730628 27730628 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr2:27730628C>G ENST00000264717.2 + 14 1287 c.1224C>G c.(1222-1224)ttC>ttG p.F408L GCKR_ENST00000424318.2_Missense_Mutation_p.F218L NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 408 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) CTGTGGTCTTCATTTTCACCC 0.537000 8 46 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 135985758 135985758 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr9:135985758G>C ENST00000393160.3 - 3 601 c.248C>G c.(247-249)tCc>tGc p.S83C RALGDS_ENST00000372047.3_Missense_Mutation_p.S138C|RALGDS_ENST00000372062.3_Missense_Mutation_p.S121C|RALGDS_ENST00000542690.1_Missense_Mutation_p.S209C|RALGDS_ENST00000372050.3_Missense_Mutation_p.S138C|RALGDS_ENST00000393157.3_Missense_Mutation_p.S137C NM_001042368.1 NP_001035827.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 138 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) GGTGACGTAGGAGAGGTCGCT 0.577000 T CIITA """PMBL, Hodgkin Lymphona, """ 6 42 0 0 1 0 0 AFF1 4299 broad.mit.edu 37 4 87968606 87968606 + Nonsense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr4:87968606C>T ENST00000307808.6 + 3 1318 c.898C>T c.(898-900)Caa>Taa p.Q300* AFF1_ENST00000395146.4_Nonsense_Mutation_p.Q307*|AFF1_ENST00000544085.1_Intron NM_005935.2 NP_005926.1 P51825 AFF1_HUMAN AF4/FMR2 family, member 1 300 nucleus sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(2) 3 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CATGGATGGTCAAGATCAGGC 0.542000 29 180 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50142523 50142523 + Silent SNP A A G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:50142523A>G ENST00000347869.3 + 9 817 c.642A>G c.(640-642)gaA>gaG p.E214E NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 214 apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGAACAGGAAGTGCCTCCTG 0.368000 3 19 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52260496 52260496 + Splice_Site SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:52260496C>T ENST00000354831.7 - 25 3028 c.2840_splice c.e25+1 p.D947_splice NRD1_ENST00000544028.1_3'UTR|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Splice_Site_p.D879_splice|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000539524.1_Splice_Site_p.D815_splice|RP4-657D16.3_ENST00000586761.1_RNA NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 878 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 AATACTTACTCAACAACATAT 0.358000 13 58 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50030561 50030561 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:50030561G>C ENST00000261897.1 + 15 1956 c.1405G>C c.(1405-1407)Gag>Cag p.E469Q PRPF40B_ENST00000380281.1_Missense_Mutation_p.E475Q|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E497Q Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 475 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 GGAGAGGGAAGAGGAGGAGGA 0.567000 OREG0021797 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 119 0 0 1 0 0 NHP2L1 4809 broad.mit.edu 37 22 42071006 42071006 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr22:42071006G>C ENST00000401959.1 - 4 634 c.318C>G c.(316-318)atC>atG p.I106M NHP2L1_ENST00000402458.1_Missense_Mutation_p.I110M|NHP2L1_ENST00000355257.3_Missense_Mutation_p.I106M|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.I106M NM_005008.3 NP_004999.1 P55769 NH2L1_HUMAN NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) 106 nuclear mRNA splicing, via spliceosome|ribosome biogenesis box C/D snoRNP complex|nucleoplasm|spliceosomal complex protein binding|RNA binding endometrium(1)|kidney(1)|lung(1)|prostate(1) 4 AGCCTTCTTTGATGGTGACAG 0.557000 7 83 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152815068 152815068 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:152815068C>T ENST00000370186.1 + 9 1736 c.1410C>T c.(1408-1410)acC>acT p.T470T ATP2B3_ENST00000359149.3_Silent_p.T484T|ATP2B3_ENST00000349466.2_Silent_p.T484T|ATP2B3_ENST00000263519.4_Silent_p.T484T|ATP2B3_ENST00000393842.1_Silent_p.T470T|ATP2B3_ENST00000370181.2_Silent_p.T470T Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 484 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ACCGTATGACCGTGGTCCAGT 0.612000 39 119 0 0 1 0 0 MPDZ 8777 broad.mit.edu 37 9 13138131 13138131 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr9:13138131C>G ENST00000319217.7 - 29 4272 c.4025G>C c.(4024-4026)gGa>gCa p.G1342A MPDZ_ENST00000541718.1_Missense_Mutation_p.G1342A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1342A|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1342A|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1309A|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1309A|MPDZ_ENST00000538841.1_Missense_Mutation_p.G201A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1356A NM_001261406.1 NP_001248335.1 O75970 MPDZ_HUMAN multiple PDZ domain protein 1342 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) TGTTAGGGTTCCATAACGCTC 0.393000 4 24 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26493139 26493139 + Silent SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:26493139G>C ENST00000381340.3 - 56 8396 c.7980C>G c.(7978-7980)gtC>gtG p.V2660V RP11-513G19.1_ENST00000535324.1_RNA NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2660 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) ACAGCTGTTTGACCAGACTCA 0.552000 18 75 0 0 1 0 0 ACAD8 27034 broad.mit.edu 37 11 134128475 134128475 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:134128475C>T ENST00000281182.4 + 4 553 c.447C>T c.(445-447)ctC>ctT p.L149L ACAD8_ENST00000543332.1_Silent_p.L51L|ACAD8_ENST00000537423.1_Silent_p.L72L|ACAD8_ENST00000524547.1_Intron|ACAD8_ENST00000374752.4_Intron NM_014384.2 NP_055199.1 Q9UKU7 ACAD8_HUMAN acyl-CoA dehydrogenase family, member 8 149 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 14 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) GCCCACCGCTCTGTACCATGG 0.473000 5 18 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501704 140501704 + Missense_Mutation SNP T T C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr5:140501704T>C ENST00000194152.1 + 1 124 c.124T>C c.(124-126)Tcc>Ccc p.S42P NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 42 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGAGAGCGGCTCCTTTGTAGC 0.542000 4 76 0 0 1 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769314 15769314 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:15769314C>T ENST00000221307.7 + 11 1311 c.1263C>T c.(1261-1263)ctC>ctT p.L421L CYP4F3_ENST00000585846.1_Silent_p.L421L|CYP4F3_ENST00000586182.1_Silent_p.L421L|CYP4F3_ENST00000591058.1_Silent_p.L421L NM_000896.2 NP_000887.2 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 3 421 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1) 34 TTATCTGCCTCATCAGTGTTT 0.612000 8 265 0 0 1 0 0 KNG1 3827 broad.mit.edu 37 3 186442879 186442879 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:186442879G>A ENST00000265023.4 + 4 606 c.394G>A c.(394-396)Gag>Aag p.E132K KNG1_ENST00000447445.1_Missense_Mutation_p.E132K|KNG1_ENST00000287611.2_Missense_Mutation_p.E132K|RP11-573D15.8_ENST00000599314.1_RNA NM_001102416.2 NP_001095886.1 P01042 KNG1_HUMAN kininogen 1 132 Cystatin 1.|O-glycosylated at one site only. blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation extracellular space|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding p.E132K(2) endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2) 21 all_cancers(143;8.96e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;4.12e-20) GBM - Glioblastoma multiforme(93;0.0798) Ouabain(DB01092) TTGTTAAGCCGAGGGCCCTGT 0.532000 13 29 0 0 1 0 0 BOD1L1 259282 broad.mit.edu 37 4 13616234 13616234 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr4:13616234C>G ENST00000040738.5 - 4 895 c.760G>C c.(760-762)Gag>Cag p.E254Q NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 254 DNA binding GCCATGTCCTCTGAAGTTCTT 0.453000 3 37 0 0 1 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85434298 85434298 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr12:85434298C>T ENST00000393217.2 + 3 224 c.163C>T c.(163-165)Cac>Tac p.H55Y NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 55 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) ATCAGTTCTTCACTGTATTAA 0.303000 7 45 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20749634 20749634 + Nonsense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr22:20749634C>T ENST00000400451.2 + 2 560 c.46C>T c.(46-48)Cag>Tag p.Q16* ZNF74_ENST00000403682.3_Intron|ZNF74_ENST00000405993.1_Nonsense_Mutation_p.Q16*|ZNF74_ENST00000357502.5_Missense_Mutation_p.S21L|ZNF74_ENST00000356671.5_Nonsense_Mutation_p.Q16* NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 16 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TCTTTCCTCTCAGGATCCTGC 0.532000 30 104 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992151 67992151 + Missense_Mutation SNP G G T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:67992151G>T ENST00000397942.3 + 2 563 c.247G>T c.(247-249)Gca>Tca p.A83S SOCS6_ENST00000582322.1_Missense_Mutation_p.A83S NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 83 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GCGGCTTTCTGCAAAACAGAA 0.507000 18 111 3.5997e-14 3.8341e-14 1 1 0 TIAM2 26230 broad.mit.edu 37 6 155532355 155532355 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:155532355G>C ENST00000461783.3 + 17 4355 c.3082G>C c.(3082-3084)Gat>Cat p.D1028H TIAM2_ENST00000528391.2_Missense_Mutation_p.D364H|TIAM2_ENST00000456144.1_Missense_Mutation_p.D1028H|TIAM2_ENST00000456877.2_Missense_Mutation_p.D340H|TIAM2_ENST00000360366.4_Missense_Mutation_p.D1052H|TIAM2_ENST00000318981.5_Missense_Mutation_p.D1028H|TIAM2_ENST00000529824.2_Missense_Mutation_p.D1028H|TIAM2_ENST00000367174.2_Missense_Mutation_p.D404H Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 1028 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) CAACGTCCCTGATATCACAAC 0.433000 16 28 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80790229 80790229 + Nonsense_Mutation SNP G G T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:80790229G>T ENST00000269394.3 - 2 935 c.102C>A c.(100-102)tgC>tgA p.C34* TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 34 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) ACTTCTCATTGCAAGTAAAGG 0.413000 40 49 5.04308e-16 5.39657e-16 1 1 0 OR2AK2 391191 broad.mit.edu 37 1 248128891 248128891 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:248128891C>T ENST00000366480.3 + 1 357 c.258C>T c.(256-258)ctC>ctT p.L86L OR2L13_ENST00000366478.2_Intron NM_001004491.1 NP_001004491.1 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, member 2 86 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 36 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TCGTTGACCTCATGTACATCT 0.468000 6 108 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42794548 42794548 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:42794548C>T ENST00000572681.2 + 11 4423 c.4355C>T c.(4354-4356)tCa>tTa p.S1452L CIC_ENST00000575354.2_Missense_Mutation_p.S543L|CIC_ENST00000160740.3_Missense_Mutation_p.S543L Q96RK0 CIC_HUMAN capicua transcriptional repressor 543 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GCTTCCTCCTCAGCCTCGGCA 0.677000 """Mis, F, S""" oligodendroglioma 30 87 0 0 1 0 0 PSD3 23362 broad.mit.edu 37 8 18729586 18729586 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr8:18729586G>A ENST00000440756.2 - 3 890 c.788C>T c.(787-789)gCa>gTa p.A263V PSD3_ENST00000327040.8_Missense_Mutation_p.A263V|PSD3_ENST00000523619.1_Missense_Mutation_p.A198V Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 263 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) AACACTGCCTGCAGAGTGGCA 0.582000 8 53 0 0 1 0 0 RIOK1 83732 broad.mit.edu 37 6 7402876 7402876 + Missense_Mutation SNP G G C rs148276498 TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:7402876G>C ENST00000379834.2 + 7 1121 c.614G>C c.(613-615)aGa>aCa p.R205T NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 205 Protein kinase. ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) GGAGAGAGCAGAGCAATCAAA 0.318000 20 93 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20129232 20129232 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:20129232C>T ENST00000396085.1 + 37 7234 c.6873C>T c.(6871-6873)tgC>tgT p.C2291C NAV2_ENST00000360655.4_Silent_p.C2224C|NAV2_ENST00000349880.4_Silent_p.C2288C|NAV2_ENST00000527559.2_Silent_p.C2276C|NAV2_ENST00000533917.1_Silent_p.C1352C|NAV2_ENST00000311043.8_Silent_p.C1352C|NAV2_ENST00000396087.3_Silent_p.C2347C|NAV2_ENST00000540292.1_Silent_p.C2278C NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 2347 nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCTGTCATGCCCCATCGATG 0.552000 5 460 0 0 1 0 0 MROH8 140699 broad.mit.edu 37 20 35742407 35742407 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr20:35742407C>T ENST00000400441.3 - 20 2676 c.2677G>A c.(2677-2679)Gat>Aat p.D893N MROH8_ENST00000441008.2_Missense_Mutation_p.D879N|MROH8_ENST00000217333.8_Missense_Mutation_p.D722N maestro heat-like repeat family member 8 GCTACTGCATCATTTTCATCC 0.433000 5 37 0 0 1 0 0 C3orf56 285311 broad.mit.edu 37 3 126915966 126915966 + Silent SNP C C A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:126915966C>A ENST00000398112.1 + 2 678 c.438C>A c.(436-438)ggC>ggA p.G146G NM_001007534.2 NP_001007535.1 chromosome 3 open reading frame 56 breast(1)|endometrium(2)|kidney(1)|lung(5) 9 GBM - Glioblastoma multiforme(114;0.142) CCACTCTGGGCGGGGCCACCT 0.627000 4 183 0.00909568 0.00917582 1 1 0 HNRNPD 3184 broad.mit.edu 37 4 83280732 83280732 + Missense_Mutation SNP A A T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr4:83280732A>T ENST00000313899.7 - 3 628 c.351T>A c.(349-351)ttT>ttA p.F117L HNRNPD_ENST00000543098.1_Missense_Mutation_p.F65L|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000353341.4_Missense_Mutation_p.F117L|HNRNPD_ENST00000352301.4_Missense_Mutation_p.F98L NM_031370.2 NP_112738.1 Q14103 HNRPD_HUMAN heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa) 117 RRM 1. nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|telomeric DNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1) 7 CAAATTTGGAAAAGTAGTCCT 0.378000 17 60 0 0 1 0 0 CDC45 8318 broad.mit.edu 37 22 19470230 19470230 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr22:19470230C>T ENST00000407835.1 + 5 478 c.222C>T c.(220-222)ctC>ctT p.L74L CDC45_ENST00000437685.2_Silent_p.L74L|CDC45_ENST00000263201.1_Silent_p.L74L|CDC45_ENST00000404724.3_Intron|CDC45_ENST00000483431.1_3'UTR O75419 CDC45_HUMAN cell division cycle 45 74 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 ATTTTATTCTCATAAACTGTG 0.383000 4 81 0 0 1 0 0 ZFAND4 93550 broad.mit.edu 37 10 46122283 46122283 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr10:46122283G>C ENST00000374366.3 - 8 1231 c.766C>G c.(766-768)Cac>Gac p.H256D ZFAND4_ENST00000344646.5_Missense_Mutation_p.H330D|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 330 zinc ion binding CTACTGAAGTGAGACAGTGTG 0.433000 5 50 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24789008 24789008 + Silent SNP G G T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr14:24789008G>T ENST00000310677.4 - 22 2786 c.2673C>A c.(2671-2673)atC>atA p.I891I ADCY4_ENST00000418030.2_Silent_p.I891I|ADCY4_ENST00000554068.2_Silent_p.I891I NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 891 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CCTCATGATTGATGTTGGATT 0.473000 6 44 3.59834e-05 3.67866e-05 1 1 0 RIOK1 83732 broad.mit.edu 37 6 7403092 7403092 + Silent SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:7403092G>A ENST00000379834.2 + 8 1236 c.729G>A c.(727-729)gtG>gtA p.V243V NM_031480.2|NM_153005.1 NP_113668.2|NP_694550.1 Q9BRS2 RIOK1_HUMAN RIO kinase 1 243 Protein kinase. ATP binding|protein serine/threonine kinase activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Ovarian(93;0.0418) GGAAAATGGTGAAAACTTGGG 0.353000 6 40 0 0 1 0 0 OR4D5 219875 broad.mit.edu 37 11 123811260 123811260 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:123811260G>A ENST00000307033.2 + 1 1011 c.937G>A c.(937-939)Gag>Aag p.E313K NM_001001965.1 NP_001001965.1 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, member 5 313 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TGGTCCCCTGGAGCACAGACC 0.493000 5 102 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70387117 70387117 + Silent SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:70387117C>G ENST00000374051.3 + 6 1432 c.1110C>G c.(1108-1110)ctC>ctG p.L370L NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Silent_p.L350L|NLGN3_ENST00000358741.3_Silent_p.L390L NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 390 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) CTGAGATCCTCATGGAGCAGG 0.567000 14 52 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238859 48238859 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:48238859C>T ENST00000309562.2 + 1 516 c.498C>T c.(496-498)ttC>ttT p.F166F NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 AATTGCCCTTCTGTGGTCCCA 0.488000 20 81 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72139145 72139145 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr16:72139145G>C ENST00000268482.3 + 17 2786 c.2277G>C c.(2275-2277)caG>caC p.Q759H DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 759 Helicase C-terminal. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) CCTCAGACCAGATTGTGGAGC 0.567000 12 23 0 0 1 0 0 DNASE1L1 1774 broad.mit.edu 37 X 153631068 153631068 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chrX:153631068G>C ENST00000369809.1 - 10 1518 c.889C>G c.(889-891)Cag>Gag p.Q297E DNASE1L1_ENST00000393638.1_Missense_Mutation_p.Q297E NM_001009932.1 NP_001009932.1 P49184 DNSL1_HUMAN deoxyribonuclease I-like 1 297 DNA catabolic process endoplasmic reticulum DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters lung(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) GGGCACAGCTGAGGGGACAGG 0.652000 6 34 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879256 144879256 + Silent SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:144879256C>T ENST00000369359.4 - 30 4640 c.4602G>A c.(4600-4602)ctG>ctA p.L1534L PDE4DIP_ENST00000530740.1_Silent_p.L1534L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.L1398L|PDE4DIP_ENST00000369354.3_Silent_p.L1398L|PDE4DIP_ENST00000313382.9_Silent_p.L1354L Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1398 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CAACAGCTCTCAGCTTCCAGG 0.537000 T PDGFRB MPD 10 100 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82585411 82585411 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr7:82585411C>G ENST00000423517.2 - 5 5195 c.4858G>C c.(4858-4860)Gat>Cat p.D1620H PCLO_ENST00000333891.8_Missense_Mutation_p.D1620H NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1551 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 GCATCTTCATCAATGCTTGTG 0.413000 11 178 0 0 1 0 0 ILF2 3608 broad.mit.edu 37 1 153634912 153634912 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:153634912G>C ENST00000361891.4 - 14 1258 c.1133C>G c.(1132-1134)cCt>cGt p.P378R ILF2_ENST00000480213.1_5'UTR NM_001267809.1|NM_004515.3 NP_001254738.1|NP_004506.2 Q12905 ILF2_HUMAN interleukin enhancer binding factor 2 378 immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|ribonucleoprotein complex ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity cervix(1)|kidney(1)|lung(4)|skin(1) 7 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) ctctccttgaggtggttcttc 0.488000 23 32 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142280234 142280234 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:142280234C>G ENST00000350721.4 - 5 1321 c.1200G>C c.(1198-1200)ttG>ttC p.L400F ATR_ENST00000383101.3_Missense_Mutation_p.L400F NM_001184.3 NP_001175.2 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related 400 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TTTCCATTTTCAAAGCTGCAT 0.348000 Other conserved DNA damage response genes 3 51 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54805384 54805384 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr6:54805384C>T ENST00000306858.7 + 5 1731 c.1615C>T c.(1615-1617)Cgg>Tgg p.R539W NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 539 p.R539W(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TACTCATTCTCGGCTTCGTTC 0.413000 3 51 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65376848 65376848 + Nonsense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr3:65376848C>T ENST00000330909.8 - 14 2384 c.2385G>A c.(2383-2385)tgG>tgA p.W795* MAGI1_ENST00000402939.2_Nonsense_Mutation_p.W795*|MAGI1_ENST00000483466.1_Nonsense_Mutation_p.W795*|MAGI1_ENST00000497477.2_Nonsense_Mutation_p.W795* NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 795 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGGACTGGGCCCAGATTTTAA 0.537000 4 65 0 0 1 0 0 RTTN 25914 broad.mit.edu 37 18 67813011 67813011 + Missense_Mutation SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:67813011G>A ENST00000255674.6 - 18 2604 c.2318C>T c.(2317-2319)tCg>tTg p.S773L RTTN_ENST00000437017.1_Missense_Mutation_p.S773L|RTTN_ENST00000454359.1_Missense_Mutation_p.S773L NM_173630.3 NP_775901.3 Q86VV8 RTTN_HUMAN rotatin 773 binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Esophageal squamous(42;0.129) TAATGCTAGCGAACGGACCCT 0.383000 18 88 0 0 1 0 0 LRRC37B 114659 broad.mit.edu 37 17 30374836 30374836 + Missense_Mutation SNP C C T TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:30374836C>T ENST00000327564.7 + 9 2441 c.2380C>T c.(2380-2382)Cgg>Tgg p.R794W LRRC37B_ENST00000584368.1_Missense_Mutation_p.R728W|LRRC37B_ENST00000341671.7_Missense_Mutation_p.R767W|LRRC37B_ENST00000394713.3_Missense_Mutation_p.R716W|LRRC37B_ENST00000543378.2_Missense_Mutation_p.R685W Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B 767 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 29 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) GTTACAAGCCCGGAAGCAGCA 0.493000 10 191 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29185216 29185216 + Missense_Mutation SNP G G C TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr17:29185216G>C ENST00000321990.4 + 9 3209 c.2831G>C c.(2830-2832)aGa>aCa p.R944T CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 944 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GAAGAAGTAAGAAATCTTTTG 0.303000 3 41 0 0 1 0 0 CTSC 1075 broad.mit.edu 37 11 88045588 88045588 + Silent SNP G G A TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr11:88045588G>A ENST00000227266.5 - 3 567 c.453C>T c.(451-453)gtC>gtT p.V151V NM_001814.4 NP_001805.3 P53634 CATC_HUMAN cathepsin C 151 immune response lysosome cysteine-type endopeptidase activity large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2) 22 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GTGCTATGTTGACATACACAT 0.418000 33 118 0 0 1 0 0 PRKD2 25865 broad.mit.edu 37 19 47204144 47204144 + Missense_Mutation SNP C C G TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr19:47204144C>G ENST00000433867.1 - 8 1510 c.1033G>C c.(1033-1035)Gag>Cag p.E345Q PRKD2_ENST00000601806.1_Missense_Mutation_p.E188Q|PRKD2_ENST00000600194.1_Missense_Mutation_p.E188Q|PRKD2_ENST00000595515.1_Missense_Mutation_p.E345Q|PRKD2_ENST00000291281.4_Missense_Mutation_p.E345Q NM_001079880.1|NM_001079881.1|NM_016457.4 NP_001073349.1|NP_001073350.1|NP_057541.2 Q9BZL6 KPCD2_HUMAN protein kinase D2 345 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CCGGAGTCCTCTGACTCATCC 0.617000 9 48 0 0 1 0 0 WASF2 10163 broad.mit.edu 37 1 27744825 27744825 + Frame_Shift_Del DEL C C - rs150650907 byFrequency TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr1:27744825delC ENST00000430629.2 - 4 579 c.364delG c.(364-366)aafs p.E122fs WASF2_ENST00000536657.1_Frame_Shift_Del_p.E122fs NM_001201404.1|NM_006990.3 NP_001188333.1|NP_008921.1 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 122 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 18 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) TTGTATGTTTCTAAGACAGGC 0.443 12 69 --- --- --- --- RAB2A 5862 broad.mit.edu 37 8 61533317 61533317 + Frame_Shift_Del DEL G G - TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr8:61533317delG ENST00000262646.7 + 8 979 c.628delG c.(628-630)gcfs p.G210fs RAB2A_ENST00000531289.1_Frame_Shift_Del_p.G186fs|RAB2A_ENST00000529579.1_Frame_Shift_Del_p.A174fs|RAB2A_ENST00000530071.1_3'UTR NM_002865.2 NP_002856.1 P61019 RAB2A_HUMAN RAB2A, member RAS oncogene family 210 ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome GDP binding|GTP binding|GTPase activity endometrium(1)|large_intestine(1)|lung(4) 6 BRCA - Breast invasive adenocarcinoma(89;0.0805) GGCTGGGGGCGGCTGCTGTTG 0.502 15 62 --- --- --- --- FAS 355 broad.mit.edu 37 10 90768732 90768732 + Frame_Shift_Del DEL G G - TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr10:90768732delG ENST00000355740.2 + 4 641 c.421delG c.(421-423)aafs p.E141fs FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Frame_Shift_Del_p.E141fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.E141fs|FAS_ENST00000357339.2_Frame_Shift_Del_p.E141fs NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 141 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) TACTGTATGTGAACACTGTGA 0.373 120 358 --- --- --- --- SOCS6 9306 broad.mit.edu 37 18 67992094 67992094 + Frame_Shift_Del DEL G G - TCGA-KU-A6H7-01A-11D-A31L-08 TCGA-KU-A6H7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 07ebbb32-dc51-4e25-8421-af04946f07f9 51779779-e52a-4a47-b1ac-03447fdf0fbf g.chr18:67992094delG ENST00000397942.3 + 2 506 c.190delG c.(190-192)gafs p.G64fs SOCS6_ENST00000582322.1_Frame_Shift_Del_p.G64fs NM_004232.3 NP_004223.2 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 64 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TGAAAAAGGCGGAAAAAACAG 0.468 18 82 --- --- --- ---