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 ADCY8 114 broad.mit.edu 37 8 131955633 131955633 + Silent SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:131955633G>T ENST00000286355.5 - 4 3409 c.1317C>A c.(1315-1317)ctC>ctA p.L439L RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Silent_p.L439L NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 439 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.L439L(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AGAGCTCGTTGAGCATCCTGA 0.473000 HNSCC(32;0.087) 16 46 1.37657e-19 3.59702e-19 0.001882 1 0 OR4P4 81300 broad.mit.edu 37 11 55406518 55406518 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:55406518G>A ENST00000314612.2 + 1 685 c.685G>A c.(685-687)Gag>Aag p.E229K NM_001004124.1 NP_001004124.1 Q8NGL7 OR4P4_HUMAN olfactory receptor, family 4, subfamily P, member 4 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E229K(1) autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1) 40 ATACTCTGCAGAGAGACGCAG 0.388000 55 28 0 0 0.003610 0 0 IL20RA 53832 broad.mit.edu 37 6 137323275 137323275 + Missense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:137323275C>T ENST00000367748.1 - 6 1335 c.749G>A c.(748-750)gGg>gAg p.G250E IL20RA_ENST00000541547.1_Missense_Mutation_p.G312E|IL20RA_ENST00000316649.5_Missense_Mutation_p.G361E Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha 361 integral to membrane receptor activity p.G361E(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) CGAAGCATACCCTAAATGTTT 0.488000 19 45 0 0 0.008871 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110454436 110454436 + Missense_Mutation SNP T T G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:110454436T>G ENST00000260283.4 - 14 1725 c.1441A>C c.(1441-1443)Aat>Cat p.N481H ARHGAP20_ENST00000524756.1_Missense_Mutation_p.N458H|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.N455H|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.N24H|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.N445H|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.N445H|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.N455H NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 481 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.N481H(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) AGAACAACATTGGCTCTCGGA 0.383000 14 12 0 0 0.002450 0 0 DNAI2 64446 broad.mit.edu 37 17 72310295 72310295 + Nonsense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:72310295G>T ENST00000307504.5 + 12 1582 c.1174G>T c.(1174-1176)Gga>Tga p.G392* DNAI2_ENST00000582036.1_Missense_Mutation_p.E574D|DNAI2_ENST00000311014.6_Missense_Mutation_p.E586D|DNAI2_ENST00000446837.2_Missense_Mutation_p.E586D|DNAI2_ENST00000579490.1_Missense_Mutation_p.E643D Q9GZS0 DNAI2_HUMAN dynein, axonemal, intermediate chain 2 0 cilium assembly axonemal dynein complex|cilium axoneme|cytoplasm|microtubule microtubule motor activity p.E586D(1) breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 aggtggtggaggagggagagg 0.582000 Kartagener syndrome 8 35 0.000157383 0.000259855 0.003080 1 0 ZNF536 9745 broad.mit.edu 37 19 30934718 30934718 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:30934718C>A ENST00000355537.3 + 2 396 c.249C>A c.(247-249)ctC>ctA p.L83L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.L83L(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGATGGCGCTCCTGGCCAACC 0.672000 7 17 0.00198382 0.00313757 0.001984 1 0 OR9K2 441639 broad.mit.edu 37 12 55524042 55524042 + Missense_Mutation SNP C C G rs143111490 TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:55524042C>G ENST00000305377.5 + 1 578 c.490C>G c.(490-492)Cgt>Ggt p.R164G NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 164 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R164G(1)|p.R164C(1) NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 AATGTCCACACGTCTGTGTAC 0.468000 54 122 0 0 0.003610 0 0 LPA 4018 broad.mit.edu 37 6 160978463 160978463 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:160978463G>A ENST00000447678.1 - 30 4892 c.4772C>T c.(4771-4773)aCt>aTt p.T1591I LPA_ENST00000316300.5_Missense_Mutation_p.T1591I NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4099 Kringle 14. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.T1591I(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TGGAACAACAGTGGGAGTCTC 0.463000 12 97 0 0 0.002450 0 0 F9 2158 broad.mit.edu 37 X 138612946 138612946 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:138612946T>C ENST00000218099.2 + 1 30 c.23T>C c.(22-24)aTg>aCg p.M8T F9_ENST00000394090.2_Missense_Mutation_p.M8T|F9_ENST00000479617.1_3'UTR NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 8 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity p.M8T(1) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) AACATGATCATGGCAGAATCA 0.408000 22 89 0 0 0.005443 0 0 HS3ST4 9951 broad.mit.edu 37 16 26147079 26147079 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:26147079C>A ENST00000331351.5 + 2 1273 c.881C>A c.(880-882)gCc>gAc p.A294D HS3ST4_ENST00000475436.1_3'UTR NM_006040.2 NP_006031.2 Q9Y661 HS3S4_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 4 294 heparan sulfate proteoglycan metabolic process extracellular region|Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 1 activity p.A294D(2) breast(2)|endometrium(3)|large_intestine(1)|lung(9) 15 GBM - Glioblastoma multiforme(48;0.0988) GTGACCAGGGCCATCTCTGAC 0.532000 30 127 3.1745e-13 7.04012e-13 0.008361 1 0 FRMPD1 22844 broad.mit.edu 37 9 37711392 37711392 + Splice_Site SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr9:37711392G>C ENST00000539465.1 + 5 1001 c.408_splice c.e5+1 p.S136_splice RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Splice_Site_p.S136_splice Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 136 cytoskeleton|cytosol|plasma membrane p.S136S(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GBM - Glioblastoma multiforme(29;0.00655) GCTGCACGTCGGTAAATCTCT 0.438000 52 136 0 0 0.003610 0 0 PCDHA9 9752 broad.mit.edu 37 5 140228509 140228509 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:140228509G>A ENST00000378122.3 + 1 1153 c.429G>A c.(427-429)gcG>gcA p.A143A PCDHA9_ENST00000532602.1_Silent_p.A143A|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_014005.3 NP_054724.1 p.A143A(2) breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGTTCATCGCGGAATCCAGGC 0.552000 6 146 0 0 0.001168 0 0 CAPN6 827 broad.mit.edu 37 X 110489966 110489966 + Missense_Mutation SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:110489966A>T ENST00000324068.1 - 13 1932 c.1765T>A c.(1765-1767)Tgt>Agt p.C589S CAPN6_ENST00000541758.1_Missense_Mutation_p.C334S NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 589 C2. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding p.C589S(1) cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 AACTGATCACAGAATTTTCGG 0.512000 17 41 0 0 0.006122 0 0 TNN 63923 broad.mit.edu 37 1 175086266 175086266 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:175086266G>T ENST00000239462.4 + 10 2424 c.2311G>T c.(2311-2313)Gtg>Ttg p.V771L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 771 Fibronectin type-III 6. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix p.V771L(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GAGGCCGGGTGTGGAGTACAC 0.612000 30 79 1.39806e-14 3.26938e-14 0.008361 1 0 PALM2-AKAP2 445815 broad.mit.edu 37 9 112900028 112900028 + Missense_Mutation SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr9:112900028G>C ENST00000374530.3 + 8 2384 c.2204G>C c.(2203-2205)gGg>gCg p.G735A PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G735A|AKAP2_ENST00000374525.1_Missense_Mutation_p.G593A|AKAP2_ENST00000434623.2_Missense_Mutation_p.G593A|AKAP2_ENST00000259318.7_Missense_Mutation_p.G504A|AKAP2_ENST00000555236.1_Missense_Mutation_p.G735A|AKAP2_ENST00000510514.5_Missense_Mutation_p.G735A NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 504 enzyme binding p.G735A(1)|p.G593A(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 AGTGACAGCGGGGCATCCAAT 0.522000 12 72 0 0 0.001855 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594394 140594394 + Silent SNP C C A rs3822336 TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:140594394C>A ENST00000341948.4 + 1 886 c.699C>A c.(697-699)gtC>gtA p.V233V NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 233 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding p.V233V(1) NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACATCGAAGTCCTGGATGTCA 0.537000 32 149 5.91797e-21 1.58075e-20 0.002445 1 0 BAGE2 85319 broad.mit.edu 37 21 11098827 11098827 + RNA SNP C C T rs79274499 by1000genomes TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr21:11098827C>T ENST00000470054.1 - 0 98 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ccatccagagcgagacgagcc 0.637000 4 13 0 0 0.000248 0 0 MYPN 84665 broad.mit.edu 37 10 69909840 69909840 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:69909840C>G ENST00000358913.5 + 6 1777 c.1289C>G c.(1288-1290)cCt>cGt p.P430R MYPN_ENST00000354393.2_Missense_Mutation_p.P155R|MYPN_ENST00000540630.1_Missense_Mutation_p.P430R|MYPN_ENST00000373675.3_Missense_Mutation_p.P430R NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 430 Interaction with CARP. nucleus|sarcomere actin binding p.P430R(1) breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 GATGGAAAACCTATCATTGCA 0.368000 22 60 0 0 0.004656 0 0 COL14A1 7373 broad.mit.edu 37 8 121262899 121262899 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:121262899C>A ENST00000297848.3 + 22 2916 c.2646C>A c.(2644-2646)aaC>aaA p.N882K COL14A1_ENST00000309791.4_Missense_Mutation_p.N882K|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.N787K NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 882 Fibronectin type-III 7. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging p.N882K(1) NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CTGACATTAACACCATCCTTA 0.448000 32 46 6.53348e-20 1.72979e-19 0.003755 1 0 ZNF835 90485 broad.mit.edu 37 19 57175225 57175225 + Missense_Mutation SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:57175225A>T ENST00000537055.2 - 2 1573 c.1342T>A c.(1342-1344)Tgc>Agc p.C448S NM_001005850.2 NP_001005850.2 zinc finger protein 835 p.C470S(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 47 CACTCGGGGCAGGTGTAGGGC 0.677000 39 47 0 0 0.004878 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:25398285C>A ENST00000311936.3 - 2 225 c.34G>T c.(34-36)Ggt>Tgt p.G12C KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 13 13 1.3612e-06 2.47904e-06 0.003163 1 0 TRHDE 29953 broad.mit.edu 37 12 73012670 73012670 + Splice_Site SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:73012670G>T ENST00000261180.4 + 13 2282 c.e13-1 TRHDE_ENST00000549138.1_Splice_Site NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding p.?(1) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TTTAACTGTAGGGCTGGCTAT 0.368000 22 76 2.41591e-17 6.02474e-17 0.004656 1 0 PCNT 5116 broad.mit.edu 37 21 47783483 47783483 + Missense_Mutation SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr21:47783483A>T ENST00000359568.5 + 14 2350 c.2243A>T c.(2242-2244)aAa>aTa p.K748I PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 748 Glu-rich. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding p.K748I(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) TTCCAAAGAAAAGAAACGGAC 0.408000 20 67 0 0 0.007413 0 0 SNX32 254122 broad.mit.edu 37 11 65620114 65620114 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:65620114G>A ENST00000308342.6 + 11 1351 c.926G>A c.(925-927)cGg>cAg p.R309Q NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 309 cell communication|protein transport phosphatidylinositol binding p.R309Q(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) CTGCTGTACCGGCGGCTGCGG 0.697000 4 12 0 0 0.000248 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013595 149013595 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:149013595C>A ENST00000535454.1 + 4 1098 c.549C>A c.(547-549)acC>acA p.T183T MAGEA8_ENST00000286482.1_Silent_p.T183T|MAGEA8_ENST00000542674.1_Silent_p.T183T NM_001166400.1 NP_001159872.1 P43361 MAGA8_HUMAN melanoma antigen family A, 8 183 MAGE. p.T183T(1) NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;6.56e-05) TCCTTGTCACCTGCCTGGGCC 0.542000 13 94 9.31168e-06 1.63635e-05 0.001855 1 0 LDB2 9079 broad.mit.edu 37 4 16900063 16900063 + Missense_Mutation SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:16900063G>C ENST00000502640.1 - 1 194 c.46C>G c.(46-48)Cca>Gca p.P16A LDB2_ENST00000515064.1_Missense_Mutation_p.P16A|LDB2_ENST00000441778.2_Missense_Mutation_p.P16A|LDB2_ENST00000304523.5_Missense_Mutation_p.P16A O43679 LDB2_HUMAN LIM domain binding 2 16 LIM domain binding|transcription cofactor activity p.P16A(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 CTATAAAATGGGCCGAAAGGA 0.453000 4 57 0 0 0.000248 0 0 MUC16 94025 broad.mit.edu 37 19 8996403 8996403 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:8996403C>A ENST00000397910.4 - 61 41372 c.41169G>T c.(41167-41169)ctG>ctT p.L13723L MUC16_ENST00000380951.5_Silent_p.L364L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13725 SEA 11. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.L408L(1)|p.L13723L(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTCCCAATACAGCTGCTCTC 0.572000 28 106 1.77063e-15 4.20613e-15 0.005443 1 0 DUSP7 1849 broad.mit.edu 37 3 52088145 52088145 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:52088145C>A ENST00000495880.1 - 2 946 c.763G>T c.(763-765)Ggc>Tgc p.G255C DUSP7_ENST00000296483.6_Missense_Mutation_p.G204C Q16829 DUS7_HUMAN dual specificity phosphatase 7 255 inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor 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 cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity p.G204C(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TTGGCGCAGCCGAGGTAGAGG 0.612000 22 113 9.95505e-16 2.39319e-15 0.002299 1 0 LARP4 113251 broad.mit.edu 37 12 50835427 50835427 + Splice_Site SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:50835427G>T ENST00000398473.2 + 8 916 c.e8+1 LARP4_ENST00000293618.8_Splice_Site|LARP4_ENST00000522085.1_Splice_Site|LARP4_ENST00000518561.1_Splice_Site|LARP4_ENST00000429001.3_Splice_Site|LARP4_ENST00000518444.1_Splice_Site|LARP4_ENST00000347328.5_Splice_Site NM_052879.4|NM_199188.2 NP_443111.4|NP_954658.2 Q71RC2 LARP4_HUMAN La ribonucleoprotein domain family, member 4 nucleotide binding|RNA binding p.?(1) breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1) 23 GCCAATTATGGTAAGAAATAG 0.294000 16 78 1.99824e-07 3.78845e-07 0.004990 1 0 ZNHIT1 10467 broad.mit.edu 37 7 100866000 100866000 + Silent SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:100866000G>T ENST00000305105.2 + 2 666 c.138G>T c.(136-138)gcG>gcT p.A46A ZNHIT1_ENST00000492315.1_3'UTR NM_006349.2 NP_006340.1 O43257 ZNHI1_HUMAN zinc finger, HIT-type containing 1 46 metal ion binding|protein binding p.A46A(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2) 11 Lung NSC(181;0.168)|all_lung(186;0.215) ACCCCCACGCGGGACTCCCTC 0.667000 11 40 9.70103e-10 1.97638e-09 0.008291 1 0 TRAV10 28676 broad.mit.edu 37 14 22293994 22293994 + RNA SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr14:22293994T>A ENST00000390432.2 + 0 134 CAGTCCCTGATCATCCTGGAG 0.443000 16 75 0 0 0.004990 0 0 ALMS1 7840 broad.mit.edu 37 2 73677380 73677380 + Silent SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:73677380A>T ENST00000264448.6 + 8 3834 c.3723A>T c.(3721-3723)acA>acT p.T1241T ALMS1_ENST00000409009.1_Silent_p.T1199T|ALMS1_ENST00000377715.1_Silent_p.T1241T NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1241 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.T1241T(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACTCACACACAGAGAAGCCTG 0.468000 58 110 0 0 0.003610 0 0 SLC9B2 133308 broad.mit.edu 37 4 103964603 103964603 + Splice_Site SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:103964603C>T ENST00000394785.3 - 9 1628 c.e9-1 SLC9B2_ENST00000339611.4_Splice_Site|SLC9B2_ENST00000362026.3_Splice_Site|SLC9B2_ENST00000503103.1_Splice_Site|SLC9B2_ENST00000503230.1_Splice_Site NM_178833.4 NP_849155.2 Q86UD5 NHDC2_HUMAN solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2 sodium ion transport integral to membrane|mitochondrial membrane solute:hydrogen antiporter activity p.?(2) CAAGTTTGTCCTTTAGGAGAA 0.343000 3 19 0 0 0.000248 0 0 ZNF177 7730 broad.mit.edu 37 19 9490795 9490795 + Missense_Mutation SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:9490795A>T ENST00000446085.4 + 9 848 c.316A>T c.(316-318)Aca>Tca p.T106S ZNF177_ENST00000590616.1_Missense_Mutation_p.T106S|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000541595.2_Missense_Mutation_p.T106S|ZNF177_ENST00000602856.1_Missense_Mutation_p.T106S|ZNF177_ENST00000343499.4_Missense_Mutation_p.T106S|ZNF177_ENST00000602738.1_Missense_Mutation_p.T106S|ZNF177_ENST00000589262.1_Missense_Mutation_p.T106S|ZNF177_ENST00000434737.2_Missense_Mutation_p.T106S Q13360 ZN177_HUMAN zinc finger protein 177 106 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T106S(2) breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2) 13 TGGGGGAAAAACATCCAATGG 0.373000 7 25 0 0 0.006214 0 0 LILRB2 10288 broad.mit.edu 37 19 54782199 54782199 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:54782199C>A ENST00000391748.1 - 7 1300 c.1173G>T c.(1171-1173)gcG>gcT p.A391A LILRB2_ENST00000391749.4_Silent_p.A391A|LILRB2_ENST00000434421.1_Silent_p.A275A|LILRB2_ENST00000391746.1_Silent_p.A391A|LILRB2_ENST00000314446.5_Silent_p.A391A NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 391 Ig-like C2-type 4. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity p.A391A(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGTAGGTCCCCGCGTGGGCTG 0.602000 36 141 3.76114e-14 8.56228e-14 0.004289 1 0 TRAF4 9618 broad.mit.edu 37 17 27076266 27076266 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:27076266C>G ENST00000262395.5 + 7 1213 c.1084C>G c.(1084-1086)Cac>Gac p.H362D TRAF4_ENST00000262396.6_Intron|TRAF4_ENST00000444415.3_Missense_Mutation_p.H362D NM_004295.3 NP_004286.2 Q9BUZ4 TRAF4_HUMAN TNF receptor-associated factor 4 362 MATH. apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding p.H362D(1) endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 10 Lung NSC(42;0.01) Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235) TGAGGGCACACACCTCTCACT 0.542000 3 72 0 0 0.000248 0 0 RUNX1T1 862 broad.mit.edu 37 8 92988184 92988184 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:92988184G>T ENST00000523629.1 - 10 1751 c.1297C>A c.(1297-1299)Ctt>Att p.L433I RUNX1T1_ENST00000360348.2_Missense_Mutation_p.L396I|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.L433I|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.L406I|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.L444I|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.L396I|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.L396I|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.L406I NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 433 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L444I(1)|p.L433I(1)|p.L396I(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) GGCCTGTGAAGGAATTCCCGA 0.493000 41 153 5.78141e-17 1.42989e-16 0.003214 1 0 ST6GALNAC3 256435 broad.mit.edu 37 1 77093237 77093237 + Missense_Mutation SNP T T G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:77093237T>G ENST00000328299.3 + 4 872 c.724T>G c.(724-726)Tac>Gac p.Y242D NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 242 protein glycosylation integral to Golgi membrane sialyltransferase activity p.Y242D(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 AAATGACACCTACTGCAAGTA 0.403000 29 140 0 0 0.007291 0 0 APLF 200558 broad.mit.edu 37 2 68765343 68765343 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:68765343G>T ENST00000303795.4 + 7 1315 c.1144G>T c.(1144-1146)Ggg>Tgg p.G382W APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 382 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding p.Y381_G382>*(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 CTGCATGTATGGGGCAAACTG 0.368000 22 39 3.5997e-14 8.22593e-14 0.002299 1 0 HECTD1 25831 broad.mit.edu 37 14 31626111 31626111 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr14:31626111T>C ENST00000399332.1 - 12 2355 c.1867A>G c.(1867-1869)Aaa>Gaa p.K623E HECTD1_ENST00000553700.1_Missense_Mutation_p.K623E NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 623 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity p.K623E(1) breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) GTTGACACTTTGCTAATTACA 0.408000 11 87 0 0 0.001368 0 0 CECR1 51816 broad.mit.edu 37 22 17662792 17662792 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr22:17662792C>A ENST00000399839.1 - 9 1630 c.1360G>T c.(1360-1362)Gat>Tat p.D454Y CECR1_ENST00000399837.2_Missense_Mutation_p.D454Y|CECR1_ENST00000262607.3_Missense_Mutation_p.D454Y|CECR1_ENST00000449907.2_Missense_Mutation_p.D412Y|CECR1_ENST00000330232.4_Missense_Mutation_p.D213Y Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 454 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding p.D454Y(1)|p.D213Y(1) endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) TCATAGAAATCATAGGACAAG 0.532000 18 48 1.56452e-12 3.39451e-12 0.007413 1 0 PTPRT 11122 broad.mit.edu 37 20 40770554 40770554 + Splice_Site SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:40770554C>A ENST00000373198.3 - 19 3072 c.e19+1 PTPRT_ENST00000373184.1_Splice_Site|PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373193.3_Splice_Site|PTPRT_ENST00000373201.1_Splice_Site|PTPRT_ENST00000356100.2_Splice_Site|PTPRT_ENST00000373187.1_Splice_Site NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.?(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) AGGGCACCTACAGGATATGAT 0.448000 34 137 1.836e-18 4.67558e-18 0.003755 1 0 LGR5 8549 broad.mit.edu 37 12 71974057 71974057 + Splice_Site SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:71974057G>T ENST00000266674.5 + 16 1717 c.e16-1 LGR5_ENST00000536515.1_Splice_Site|LGR5_ENST00000540815.2_Splice_Site O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 integral to plasma membrane protein-hormone receptor activity p.?(1) NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TTCATTTAAAGGGTTATAGAA 0.333000 5 202 0.00198382 0.00313757 0.001984 1 0 ELOVL4 6785 broad.mit.edu 37 6 80626442 80626442 + Silent SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:80626442T>C ENST00000369816.4 - 6 1128 c.828A>G c.(826-828)ccA>ccG p.P276P NM_022726.3 NP_073563.1 Q9GZR5 ELOV4_HUMAN ELOVL fatty acid elongase 4 276 fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane G-protein coupled photoreceptor activity|protein binding|transferase activity, transferring acyl groups other than amino-acyl groups p.P276P(1) central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011) BRCA - Breast invasive adenocarcinoma(397;0.0168) Alpha-Linolenic Acid(DB00132) TTCCAGCTTTTGGTTTCTTAG 0.373000 20 81 0 0 0.002299 0 0 ABCA9 10350 broad.mit.edu 37 17 66982325 66982325 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:66982325G>A ENST00000340001.4 - 32 4399 c.4188C>T c.(4186-4188)gaC>gaT p.D1396D ABCA9_ENST00000370732.2_Silent_p.D1396D|ABCA9_ENST00000453985.2_Silent_p.D1358D NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 1396 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity p.D1396D(1) NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CGATCATTGCGTCCCCTTTCC 0.562000 15 85 0 0 0.003163 0 0 FGFR3 2261 broad.mit.edu 37 4 1803633 1803633 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:1803633G>A ENST00000340107.4 + 7 1067 c.811G>A c.(811-813)Gtg>Atg p.V271M FGFR3_ENST00000412135.2_Missense_Mutation_p.V271M|FGFR3_ENST00000352904.1_Missense_Mutation_p.V271M|FGFR3_ENST00000260795.2_Missense_Mutation_p.V271M|FGFR3_ENST00000440486.2_Missense_Mutation_p.V271M|FGFR3_ENST00000481110.2_Missense_Mutation_p.V271M|FGFR3_ENST00000474521.1_3'UTR NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 271 Ig-like C2-type 3. bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.V271M(2) NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) GGGCAGCGACGTGGAGTTCCA 0.687000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 10 21 0 0 0.000978 0 0 IGSF9B 22997 broad.mit.edu 37 11 133801993 133801993 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:133801993C>G ENST00000321016.8 - 8 1313 c.1083G>C c.(1081-1083)aaG>aaC p.K361N IGSF9B_ENST00000533871.2_Missense_Mutation_p.K361N Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 361 Ig-like 4. integral to membrane|plasma membrane p.K361N(1) breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GACGGCCGTCCTTGTTCCACT 0.607000 13 12 0 0 0.003163 0 0 ABCG5 64240 broad.mit.edu 37 2 44051104 44051104 + Nonsense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:44051104G>T ENST00000543989.1 - 5 1792 c.87C>A c.(85-87)taC>taA p.Y29* ABCG5_ENST00000405322.1_Nonsense_Mutation_p.Y253*|ABCG5_ENST00000260645.1_Nonsense_Mutation_p.Y424* Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 424 cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity p.Y424*(1) breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CCACAAACTGGTAAAGGAGAC 0.527000 22 37 2.98393e-07 5.58674e-07 0.002780 1 0 TGM6 343641 broad.mit.edu 37 20 2413145 2413145 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:2413145C>G ENST00000381423.1 + 12 1904 c.1843C>G c.(1843-1845)Cct>Gct p.P615A TGM6_ENST00000202625.2_Silent_p.T659T NM_001254734.1 NP_001241663.1 O95932 TGM3L_HUMAN transglutaminase 6 615 cell death|peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity p.T659T(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4) 52 L-Glutamine(DB00130) GCGTGCCTACCCTGGAGCCTC 0.617000 14 47 0 0 0.003163 0 0 MYT1 4661 broad.mit.edu 37 20 62839282 62839282 + Missense_Mutation SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:62839282A>G ENST00000536311.1 + 7 1097 c.733A>G c.(733-735)Agt>Ggt p.S245G MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Missense_Mutation_p.S245G Q01538 MYT1_HUMAN myelin transcription factor 1 245 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S245G(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) GGATGCAGCCAGTGAGGAGTC 0.602000 3 14 0 0 0.004672 0 0 QRFPR 84109 broad.mit.edu 37 4 122250567 122250567 + Silent SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:122250567A>G ENST00000394427.2 - 6 1609 c.1198T>C c.(1198-1200)Ttg>Ctg p.L400L QRFPR_ENST00000334383.5_3'UTR NM_198179.2 NP_937822.2 Q96P65 QRFPR_HUMAN pyroglutamylated RFamide peptide receptor 400 plasma membrane neuropeptide Y receptor activity p.L400L(1) endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1) 28 TGTTCACACAATTTGACTTCA 0.413000 41 177 0 0 0.008740 0 0 TAAR8 83551 broad.mit.edu 37 6 132874344 132874344 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:132874344C>T ENST00000275200.1 + 1 513 c.513C>T c.(511-513)gtC>gtT p.V171V NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 171 plasma membrane G-protein coupled receptor activity p.V171V(1) endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) ACACAGGTGTCAATGATGATG 0.468000 30 223 0 0 0.002445 0 0 TPO 7173 broad.mit.edu 37 2 1497701 1497701 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:1497701C>G ENST00000345913.4 + 11 1987 c.1896C>G c.(1894-1896)atC>atG p.I632M TPO_ENST00000382201.3_Missense_Mutation_p.I575M|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.I459M|TPO_ENST00000337415.3_Missense_Mutation_p.I632M|TPO_ENST00000329066.4_Missense_Mutation_p.I632M|TPO_ENST00000346956.3_Missense_Mutation_p.I632M|TPO_ENST00000382198.1_Missense_Mutation_p.I459M NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 632 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 p.I632M(1) 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) CTGACAACATCGATGTCTGGC 0.612000 27 34 0 0 0.005443 0 0 CROCC 9696 broad.mit.edu 37 1 17272844 17272844 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:17272844G>A ENST00000375541.5 + 16 2296 c.2227G>A c.(2227-2229)Gcc>Acc p.A743T CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 743 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity p.A743T(1) breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CAAGCTGAGCGCCCTCAACGA 0.657000 11 52 0 0 0.000978 0 0 OR8J3 81168 broad.mit.edu 37 11 55904484 55904484 + Silent SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:55904484G>T ENST00000301529.1 - 1 710 c.711C>A c.(709-711)gcC>gcA p.A237A NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A237A(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) AGGTGGAAAAGGCTTTTTTCC 0.388000 41 122 3.61848e-18 9.13742e-18 0.007835 1 0 PLCB3 5331 broad.mit.edu 37 11 64026145 64026145 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:64026145C>G ENST00000540288.1 + 11 1316 c.1213C>G c.(1213-1215)Ccc>Gcc p.P405A PLCB3_ENST00000279230.6_Missense_Mutation_p.P405A|PLCB3_ENST00000325234.5_Missense_Mutation_p.P338A NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 405 PI-PLC X-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.P405A(1) breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 CAAGACCTCGCCCTACCCCGT 0.602000 20 73 0 0 0.001523 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951485 119951485 + Missense_Mutation SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:119951485A>T ENST00000307142.4 + 4 1751 c.1555A>T c.(1555-1557)Agc>Tgc p.S519C SYNPO2_ENST00000434046.2_Missense_Mutation_p.S519C|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.S519C NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 519 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding p.S519C(2) breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGGAACGCCAAGCAGAGAACA 0.522000 5 33 0 0 0.001168 0 0 DENND1A 57706 broad.mit.edu 37 9 126214567 126214567 + Silent SNP A A C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr9:126214567A>C ENST00000373624.2 - 17 1488 c.1287T>G c.(1285-1287)acT>acG p.T429T DENND1A_ENST00000394219.3_Silent_p.T397T|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373620.3_Silent_p.T429T|DENND1A_ENST00000394215.2_Silent_p.T399T|DENND1A_ENST00000373618.1_Silent_p.T397T|DENND1A_ENST00000542603.1_Silent_p.T171T NM_020946.1 NP_065997.1 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A 429 cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity p.T429T(1) breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 ACTTGTAGACAGTCTTCATGG 0.378000 6 58 0 0 0.001984 0 0 CD79B 974 broad.mit.edu 37 17 62006601 62006601 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:62006601G>T ENST00000006750.3 - 6 767 c.675C>A c.(673-675)caC>caA p.H225Q CD79B_ENST00000349817.2_Missense_Mutation_p.H121Q|CD79B_ENST00000392795.3_Missense_Mutation_p.H226Q NM_000626.2|NM_021602.2 NP_000617.1|NP_067613.1 P40259 CD79B_HUMAN CD79b molecule, immunoglobulin-associated beta 225 cell surface receptor linked signaling pathway|immune response Golgi apparatus|integral to plasma membrane|nucleus transmembrane receptor activity p.H225Q(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1) 15 CCTGGCCTGGGTGCTCACCTA 0.612000 """Mis, O""" DLBCL 26 56 2.48779e-11 5.28327e-11 0.005443 1 0 MUC16 94025 broad.mit.edu 37 19 9070212 9070212 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:9070212G>T ENST00000397910.4 - 3 17437 c.17234C>A c.(17233-17235)gCc>gAc p.A5745D NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5747 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.A5745D(2)|p.A1378D(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGAGATGTGGCTTTGGATGT 0.473000 9 100 1.33834e-09 2.68113e-09 0.007413 1 0 TTN 7273 broad.mit.edu 37 2 179648942 179648942 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:179648942G>T ENST00000589042.1 - 16 2854 c.2630C>A c.(2629-2631)cCc>cAc p.P877H TTN_ENST00000591111.1_Missense_Mutation_p.P877H|TTN_ENST00000460472.2_Missense_Mutation_p.P831H|TTN_ENST00000359218.5_Missense_Mutation_p.P831H|TTN_ENST00000360870.5_Missense_Mutation_p.P877H|TTN_ENST00000342992.6_Missense_Mutation_p.P877H|TTN_ENST00000342175.6_Missense_Mutation_p.P831H NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 877 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P831Q(3)|p.P877Q(3) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTGGCAAGGGTGTGGGCTC 0.522000 9 88 0.00448238 0.00703371 0.004482 1 0 OTOGL 283310 broad.mit.edu 37 12 80647288 80647288 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:80647288G>T ENST00000458043.2 + 13 1307 c.1301G>T c.(1300-1302)tGc>tTc p.C434F OTOGL_ENST00000547103.1_Missense_Mutation_p.C434F NM_173591.3 NP_775862.3 otogelin-like p.C434F(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 TTGGAAAATTGCCCATGCGGT 0.353000 21 51 9.04412e-07 1.65213e-06 0.004656 1 0 OR2T3 343173 broad.mit.edu 37 1 248637213 248637213 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:248637213G>T ENST00000359594.2 + 1 587 c.562G>T c.(562-564)Gcc>Tcc p.A188S NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A188S(1) breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGAGACTCCTGCCCTGCTGAA 0.512000 79 75 7.09011e-46 2.04863e-45 0.003610 1 0 GSTO2 119391 broad.mit.edu 37 10 106039228 106039228 + Splice_Site SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:106039228A>T ENST00000338595.2 + 5 787 c.468_splice c.e5+1 p.E156_splice GSTO2_ENST00000450629.2_Intron|GSTO2_ENST00000369707.1_Splice_Site_p.E128_splice|GSTO2_ENST00000477078.2_3'UTR|GSTO2_ENST00000401888.2_Splice_Site_p.E156_splice|GSTO2_ENST00000429569.2_Intron NM_183239.1 NP_899062.1 Q9H4Y5 GSTO2_HUMAN glutathione S-transferase omega 2 156 GST C-terminal. water-soluble vitamin metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity p.E156V(1) NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 Colorectal(252;0.178) Epithelial(162;1.14e-09)|all cancers(201;3.89e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0155) Glutathione(DB00143) AACCTGGAAGAGGTACAAAAA 0.527000 6 53 0 0 0.001168 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125555740 125555740 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:125555740C>A ENST00000431078.1 + 19 3421 c.3057C>A c.(3055-3057)acC>acA p.T1019T NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 1019 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding p.T1019T(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ATCCTGTGACCAAGAATATAA 0.443000 16 38 2.23348e-06 4.00694e-06 0.004007 1 0 ADCY6 112 broad.mit.edu 37 12 49177055 49177055 + Missense_Mutation SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:49177055G>C ENST00000307885.4 - 1 857 c.163C>G c.(163-165)Ccc>Gcc p.P55A ADCY6_ENST00000550422.1_Missense_Mutation_p.P55A|ADCY6_ENST00000357869.3_Missense_Mutation_p.P55A NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 55 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding p.P55A(1) breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 GCAGGGGTGGGGCTGGGTGGC 0.721000 5 21 0 0 0.000602 0 0 LRRC6 23639 broad.mit.edu 37 8 133584708 133584708 + Missense_Mutation SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:133584708A>G ENST00000519595.1 - 12 1345 c.1247T>C c.(1246-1248)cTa>cCa p.L416P LRRC6_ENST00000250173.1_Missense_Mutation_p.L416P|LRRC6_ENST00000518642.1_3'UTR Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 416 cytoplasm p.L416P(1) breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2) 34 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GTCTACTTCTAGTTTCTCCAT 0.368000 55 115 0 0 0.003610 0 0 LAMA2 3908 broad.mit.edu 37 6 129371197 129371197 + Missense_Mutation SNP T T G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:129371197T>G ENST00000421865.2 + 2 296 c.247T>G c.(247-249)Tgt>Ggt p.C83G NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 83 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.C83G(1) NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GAACCCGCAGTGTCGAATCTG 0.463000 12 40 0 0 0.001855 0 0 OR4C12 283093 broad.mit.edu 37 11 50003113 50003113 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:50003113C>A ENST00000335238.4 - 1 958 c.925G>T c.(925-927)Gat>Tat p.D309Y NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 309 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D309Y(1) NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 CTTATTTAATCATTATCTGAA 0.378000 16 50 3.57192e-18 9.05792e-18 0.006122 1 0 KIF6 221458 broad.mit.edu 37 6 39580974 39580974 + Missense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:39580974C>T ENST00000287152.7 - 6 724 c.630G>A c.(628-630)atG>atA p.M210I KIF6_ENST00000373215.3_Missense_Mutation_p.M210I|KIF6_ENST00000373216.3_Missense_Mutation_p.M210I|KIF6_ENST00000373213.4_Missense_Mutation_p.M49I|KIF6_ENST00000538893.1_Missense_Mutation_p.M210I NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 210 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding p.M210I(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CCTCTGCAATCATTCGGTTGG 0.373000 9 46 0 0 0.006214 0 0 OR4C46 119749 broad.mit.edu 37 11 51515616 51515616 + Missense_Mutation SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:51515616T>A ENST00000328188.1 + 1 335 c.335T>A c.(334-336)cTa>cAa p.L112Q NM_001004703.1 NP_001004703.1 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, member 46 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L112Q(1) endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 48 GAGGGCATCCTACTTACTGTG 0.473000 51 148 0 0 0.003610 0 0 ZNF135 7694 broad.mit.edu 37 19 58574842 58574842 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:58574842C>A ENST00000506786.1 + 4 617 c.63C>A c.(61-63)atC>atA p.I21I ZNF135_ENST00000511556.1_Silent_p.I63I|ZNF135_ENST00000401053.4_Silent_p.I75I|ZNF135_ENST00000313434.5_Silent_p.I63I|ZNF135_ENST00000439855.2_Silent_p.I63I|ZNF135_ENST00000359978.6_Silent_p.I75I B4DHH9 B4DHH9_HUMAN zinc finger protein 135 63 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.I75I(1)|p.I63I(1) breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1) 41 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) CGAATGTCATCTCCCTGCTGG 0.587000 23 38 2.48779e-11 5.28327e-11 0.005443 1 0 VNN3 55350 broad.mit.edu 37 6 133047925 133047925 + Nonsense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:133047925C>T ENST00000207771.3 - 5 834 c.762G>A c.(760-762)tgG>tgA p.W254* VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000450865.2_Missense_Mutation_p.G134S|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000367927.5_Missense_Mutation_p.G255E|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000509351.1_Intron|VNN3_ENST00000417437.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000275223.3_Intron vanin 3 p.G255E(1)|p.W254*(1) cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) TGGCCTTGGCCCATGCTGAAT 0.547000 45 111 0 0 0.003610 0 0 SMOX 54498 broad.mit.edu 37 20 4167988 4167988 + Silent SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:4167988G>C ENST00000305958.4 + 7 1827 c.1602G>C c.(1600-1602)ctG>ctC p.L534L SMOX_ENST00000379460.2_Silent_p.L534L|SMOX_ENST00000278795.3_Silent_p.L511L|SMOX_ENST00000346595.2_Silent_p.L169L|SMOX_ENST00000339123.6_Silent_p.L481L NM_175839.1 NP_787033.1 Q9NWM0 SMOX_HUMAN spermine oxidase 534 polyamine biosynthetic process|xenobiotic metabolic process cytosol|nucleus polyamine oxidase activity p.L534L(1)|p.L511L(1) breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1) 26 Spermine(DB00127) GTGCTCTGCTGTCCGGCCAGC 0.637000 10 36 0 0 0.000978 0 0 GPR101 83550 broad.mit.edu 37 X 136112793 136112793 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:136112793G>T ENST00000298110.1 - 1 1040 c.1041C>A c.(1039-1041)gaC>gaA p.D347E NM_054021.1 NP_473362.1 Q96P66 GP101_HUMAN G protein-coupled receptor 101 347 integral to membrane|plasma membrane G-protein coupled receptor activity p.D347E(1) autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) CTTCACCCAAGTCAATGCTGC 0.547000 43 248 1.41504e-22 3.84513e-22 0.002852 1 0 PXDNL 137902 broad.mit.edu 37 8 52232511 52232511 + Silent SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:52232511T>A ENST00000356297.4 - 23 4432 c.4332A>T c.(4330-4332)ggA>ggT p.G1444G PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1444 VWFC. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.G1444G(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GACAGCAGGTTCCTTTCACCA 0.517000 4 24 0 0 0.000602 0 0 MFN1 55669 broad.mit.edu 37 3 179069732 179069732 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:179069732G>T ENST00000471841.1 + 3 283 c.157G>T c.(157-159)Gat>Tat p.D53Y MFN1_ENST00000263969.5_Missense_Mutation_p.D53Y|MFN1_ENST00000280653.7_Missense_Mutation_p.D53Y NM_033540.2 NP_284941.2 Q8IWA4 MFN1_HUMAN mitofusin 1 53 mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity p.D53Y(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1) 31 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) CACTGAAGATGATCTGGTAGA 0.353000 30 70 1.99505e-19 5.19059e-19 0.002445 1 0 KIN 22944 broad.mit.edu 37 10 7820806 7820806 + Missense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:7820806C>T ENST00000379562.3 - 5 600 c.553G>A c.(553-555)Gaa>Aaa p.E185K KIN_ENST00000535925.1_Missense_Mutation_p.E185K|KIN_ENST00000543003.1_Missense_Mutation_p.E79K O60870 KIN17_HUMAN KIN, antigenic determinant of recA protein homolog (mouse) 185 DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing cytoplasm|nuclear matrix double-stranded DNA binding|RNA binding|zinc ion binding p.E185K(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2) 19 CCCACCTGTTCCTTCCCTTCC 0.413000 84 220 0 0 0.003610 0 0 CLCA4 22802 broad.mit.edu 37 1 87045796 87045796 + Missense_Mutation SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:87045796T>A ENST00000370563.3 + 14 2570 c.2528T>A c.(2527-2529)aTt>aAt p.I843N RP4-651E10.4_ENST00000456587.1_RNA NM_012128.3 NP_036260.2 Q14CN2 CLCA4_HUMAN chloride channel accessory 4 843 apical plasma membrane|extracellular region|integral to plasma membrane chloride channel activity p.I843N(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 Lung NSC(277;0.238) all cancers(265;0.0202)|Epithelial(280;0.0404) CACATATTTATTGCCATTAAA 0.343000 15 34 0 0 0.002450 0 0 COL9A1 1297 broad.mit.edu 37 6 70991127 70991127 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:70991127C>A ENST00000357250.6 - 8 1000 c.842G>T c.(841-843)gGc>gTc p.G281V COL9A1_ENST00000370499.4_Missense_Mutation_p.G38V|COL9A1_ENST00000320755.7_Missense_Mutation_p.G38V|COL9A1_ENST00000370496.3_Missense_Mutation_p.G281V NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 281 Triple-helical region (COL3). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding p.G38V(1)|p.G281V(1) breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TCCAGGGGGGCCCGGAGGCCC 0.597000 8 21 1.12685e-05 1.96871e-05 0.004482 1 0 SMYD1 150572 broad.mit.edu 37 2 88407897 88407897 + Missense_Mutation SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:88407897T>A ENST00000419482.2 + 9 1238 c.1153T>A c.(1153-1155)Tac>Aac p.Y385N SMYD1_ENST00000444564.2_Missense_Mutation_p.Y372N|SMYD1_ENST00000438570.1_Intron NM_198274.3 NP_938015.1 Q8NB12 SMYD1_HUMAN SET and MYND domain containing 1 385 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.Y385N(1) NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 CAGGAAGCTCTACCACCCCAA 0.473000 5 40 0 0 0.001168 0 0 TDG 6996 broad.mit.edu 37 12 104379502 104379502 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:104379502G>A ENST00000392872.3 + 9 1320 c.1086G>A c.(1084-1086)ggG>ggA p.G362G TDG_ENST00000266775.9_Silent_p.G358G|TDG_ENST00000542036.1_Silent_p.G158G|TDG_ENST00000544861.1_Silent_p.G219G NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 362 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity p.G362G(1) large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) CTTCAAATGGGCTAAGTATGG 0.408000 Base excision repair (BER), DNA glycosylases 27 84 0 0 0.006320 0 0 CD1E 913 broad.mit.edu 37 1 158324240 158324240 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:158324240C>A ENST00000368160.3 + 2 132 c.132C>A c.(130-132)tcC>tcA p.S44S CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Silent_p.S44S|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Silent_p.S44S|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Silent_p.S44S|CD1E_ENST00000434258.1_Silent_p.S42S|CD1E_ENST00000368155.3_Silent_p.S44S|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368165.3_Silent_p.S44S|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368167.3_Silent_p.S44S NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 44 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen p.S44S(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) AAACTTCCTCCTTTGCCAACC 0.557000 33 116 2.70662e-09 5.40425e-09 0.001786 1 0 SLC17A5 26503 broad.mit.edu 37 6 74351499 74351499 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:74351499G>A ENST00000355773.5 - 3 708 c.440C>T c.(439-441)gCt>gTt p.A147V SLC17A5_ENST00000393019.3_Missense_Mutation_p.A147V|SLC17A5_ENST00000481996.1_5'UTR NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 147 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity p.A147V(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GGTGAGGACAGCAGTGCCAAG 0.453000 50 121 0 0 0.003610 0 0 PTPRN2 5799 broad.mit.edu 37 7 157926489 157926489 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:157926489C>A ENST00000389413.3 - 9 1539 c.1436G>T c.(1435-1437)gGg>gTg p.G479V PTPRN2_ENST00000389416.4_Missense_Mutation_p.G462V|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G479V|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G502V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.G441V NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 479 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.G479L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) CTTCGAGGGCCCAGGCATCTG 0.652000 14 54 1.05317e-09 2.12401e-09 0.002450 1 0 SERPINB13 5275 broad.mit.edu 37 18 61260167 61260167 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr18:61260167G>T ENST00000344731.5 + 5 536 c.434G>T c.(433-435)cGa>cTa p.R145L SERPINB13_ENST00000269489.5_Missense_Mutation_p.R145L NM_012397.3 NP_036529.1 Q9UIV8 SPB13_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 13 145 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity p.R145L(1)|p.R145Q(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1) 25 GATGAAAGTCGAAAGAAGATT 0.328000 15 72 6.31663e-08 1.22461e-07 0.003163 1 0 RGS22 26166 broad.mit.edu 37 8 101065029 101065029 + Splice_Site SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:101065029C>A ENST00000360863.6 - 10 1884 c.e10+1 RGS22_ENST00000523437.1_Splice_Site|RGS22_ENST00000523287.1_Splice_Site NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.?(2) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) GTACACCCTACCTGGATCTCA 0.393000 73 123 1.07941e-43 3.10396e-43 0.003610 1 0 GDF10 2662 broad.mit.edu 37 10 48429290 48429290 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:48429290C>A ENST00000224605.2 - 2 861 c.596G>T c.(595-597)gGc>gTc p.G199V NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 199 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity p.G199V(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 CTGCCACAGGCCGCGCGGTGG 0.721000 4 25 3.59834e-05 6.04078e-05 0.001168 1 0 MUC5B 727897 broad.mit.edu 37 11 1272644 1272644 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:1272644C>A ENST00000447027.1 + 31 14601 c.14543C>A c.(14542-14544)aCc>aAc p.T4848N MUC5B_ENST00000529681.1_Missense_Mutation_p.T4845N Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4845 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.T4800N(1)|p.T4845N(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCAGGGACCACCTGGATCCTC 0.632000 27 62 2.14196e-07 4.04816e-07 0.007291 1 0 PIK3CG 5294 broad.mit.edu 37 7 106513371 106513371 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:106513371G>A ENST00000359195.3 + 4 2585 c.2275G>A c.(2275-2277)Gtc>Atc p.V759I PIK3CG_ENST00000496166.1_Missense_Mutation_p.V759I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.V759I NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 759 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding p.V759I(1) breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 AAAGTATGACGTCAGTTCCCA 0.408000 13 47 0 0 0.001855 0 0 WDPCP 51057 broad.mit.edu 37 2 63380691 63380691 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:63380691C>G ENST00000409120.1 - 10 5071 c.1521G>C c.(1519-1521)agG>agC p.R507S WDPCP_ENST00000409199.1_Missense_Mutation_p.R507S|WDPCP_ENST00000398544.3_Missense_Mutation_p.R540S|WDPCP_ENST00000272321.7_Missense_Mutation_p.R699S O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 699 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane p.R699S(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 CAAGTTCATTCCTTCTGTCAA 0.294000 27 47 0 0 0.002836 0 0 THAP6 152815 broad.mit.edu 37 4 76452177 76452177 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:76452177G>T ENST00000311638.3 + 5 490 c.422G>T c.(421-423)aGc>aTc p.S141I THAP6_ENST00000507557.1_Intron|THAP6_ENST00000380837.3_Missense_Mutation_p.S99I|THAP6_ENST00000514480.1_Missense_Mutation_p.S141I|THAP6_ENST00000507885.1_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000502620.1_Intron|THAP6_ENST00000507556.1_Intron NM_144721.4 NP_653322.1 Q8TBB0 THAP6_HUMAN THAP domain containing 6 141 microtubule cytoskeleton DNA binding|metal ion binding p.S141I(1) lung(5) 5 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) TAGGAACATAGCTACAGTGTA 0.343000 15 29 2.23348e-06 4.00694e-06 0.004007 1 0 BTAF1 9044 broad.mit.edu 37 10 93786944 93786944 + Missense_Mutation SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:93786944A>T ENST00000265990.6 + 37 5601 c.5293A>T c.(5293-5295)Atg>Ttg p.M1765L BTAF1_ENST00000544642.1_Missense_Mutation_p.M593L NM_003972.2 NP_003963.1 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa 1765 Helicase C-terminal. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity p.M1765L(1) central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6) 59 Colorectal(252;0.0846) AGAAAAAATAATGGGGTTGCA 0.378000 20 91 0 0 0.007413 0 0 NANOGP1 404635 broad.mit.edu 37 12 8048247 8048247 + RNA SNP T T G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:8048247T>G ENST00000607111.1 + 0 175 p.V52G(1) kidney(1)|lung(4)|prostate(1) 6 CAGCTGTGTGTACTCAATGAT 0.458000 3 57 0 0 0.004672 0 0 MXI1 4601 broad.mit.edu 37 10 111987959 111987959 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:111987959G>T ENST00000332674.5 + 2 491 c.287G>T c.(286-288)gGc>gTc p.G96V MXI1_ENST00000393134.1_Missense_Mutation_p.G29V|MXI1_ENST00000361248.4_5'UTR|MXI1_ENST00000239007.7_Missense_Mutation_p.G29V|MXI1_ENST00000369612.1_5'UTR|MXI1_ENST00000485566.1_3'UTR NM_130439.3 NP_569157.2 P50539 MXI1_HUMAN MAX interactor 1, dimerization protein 29 Helix-loop-helix motif. cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity p.G96V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1) 10 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127) TGTGAACATGGCTACGCCTCT 0.517000 19 55 1.01871e-10 2.14072e-10 0.008871 1 0 HBB 3043 broad.mit.edu 37 11 5248282 5248282 + Translation_Start_Site SNP G G T rs63751686 TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:5248282G>T ENST00000335295.3 - 0 145 NM_000518.4 NP_000509.1 P68871 HBB_HUMAN hemoglobin, beta blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size haptoglobin-hemoglobin complex|hemoglobin complex heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1) 15 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) Iron Dextran(DB00893) AGTGAACACAGTTGTGTCAGA 0.537000 Sickle Cell Trait OREG0003733 type=REGULATORY REGION|Gene=HBB|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 29 1.06961e-07 2.06038e-07 0.003080 1 0 HAS2 3037 broad.mit.edu 37 8 122627237 122627237 + Missense_Mutation SNP A A C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:122627237A>C ENST00000303924.4 - 4 1308 c.771T>G c.(769-771)agT>agG p.S257R NM_005328.2 NP_005319.1 Q92819 HAS2_HUMAN hyaluronan synthase 2 257 integral to plasma membrane hyaluronan synthase activity p.S257R(1) HAS2/PLAG1(10) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1) 38 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) AATATCTTACACTGCTGAGGA 0.378000 17 64 0 0 0.004007 0 0 PCLO 27445 broad.mit.edu 37 7 82585225 82585225 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:82585225C>A ENST00000423517.2 - 5 5381 c.5044G>T c.(5044-5046)Gca>Tca p.A1682S PCLO_ENST00000333891.8_Missense_Mutation_p.A1682S NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1613 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.A1682S(2)|p.A1613S(1) 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 GATGACTCTGCAGAATATTTA 0.403000 13 53 5.50884e-06 9.7664e-06 0.001368 1 0 RYR2 6262 broad.mit.edu 37 1 237774250 237774250 + Silent SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:237774250T>A ENST00000366574.2 + 36 5189 c.4872T>A c.(4870-4872)ccT>ccA p.P1624P RYR2_ENST00000360064.6_Silent_p.P1622P|RYR2_ENST00000542537.1_Silent_p.P1608P NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1624 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.P1622P(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTTGGATCCTCTGCAGTTCA 0.517000 6 21 0 0 0.001984 0 0 SLITRK2 84631 broad.mit.edu 37 X 144904084 144904084 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:144904084G>T ENST00000370490.1 + 1 4396 c.141G>T c.(139-141)gaG>gaT p.E47D SLITRK2_ENST00000428560.2_Missense_Mutation_p.E47D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.E47D|SLITRK2_ENST00000434188.2_Missense_Mutation_p.E47D|SLITRK2_ENST00000413937.2_Missense_Mutation_p.E47D Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 47 integral to membrane p.E47D(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) TCAACTGTGAGAACAAAGGAT 0.448000 15 48 1.5739e-10 3.27305e-10 0.004007 1 0 CACNA1G 8913 broad.mit.edu 37 17 48680482 48680482 + Missense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:48680482C>T ENST00000352832.5 + 20 4394 c.4022C>T c.(4021-4023)tCc>tTc p.S1341F CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1341F|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S1364F|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1341F|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S1364F|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1364F|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1341F|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1341F|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1341F|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1341F|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1341F|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1364F|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1364F|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1364F NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 1364 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity p.S1364F(3)|p.S1341F(1) breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) ATTCTGGTGTCCATGGTCTCT 0.652000 14 62 0 0 0.002450 0 0 APLF 200558 broad.mit.edu 37 2 68765342 68765342 + Nonsense_Mutation SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:68765342T>A ENST00000303795.4 + 7 1314 c.1143T>A c.(1141-1143)taT>taA p.Y381* APLF_ENST00000471727.1_3'UTR NM_173545.2 NP_775816.1 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 381 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding p.Y381_G382>*(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1) 25 CCTGCATGTATGGGGCAAACT 0.368000 22 39 0 0 0.002299 0 0 RNF17 56163 broad.mit.edu 37 13 25399823 25399823 + Missense_Mutation SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr13:25399823G>C ENST00000255324.5 + 16 2210 c.2158G>C c.(2158-2160)Gaa>Caa p.E720Q RNF17_ENST00000381921.1_Missense_Mutation_p.E720Q NM_001184993.1|NM_031277.2 NP_001171922.1|NP_112567.2 Q9BXT8 RNF17_HUMAN ring finger protein 17 720 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding p.E720Q(1) NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6) 36 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TGAAGATGGAGAAAATCTGGA 0.363000 15 78 0 0 0.002450 0 0 ASPM 259266 broad.mit.edu 37 1 197073015 197073015 + Missense_Mutation SNP T T G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:197073015T>G ENST00000367409.4 - 18 5622 c.5366A>C c.(5365-5367)aAa>aCa p.K1789T ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1789 mitosis cytoplasm|nucleus calmodulin binding p.K1789T(1) breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 GACCTGTGCTTTGTATGCATG 0.363000 57 114 0 0 0.003610 0 0 SI 6476 broad.mit.edu 37 3 164710112 164710112 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:164710112C>A ENST00000264382.3 - 42 4977 c.4915G>T c.(4915-4917)Gta>Tta p.V1639L NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1639 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity p.V1639L(1) NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGTTCCAGTACTGGGGTAACC 0.328000 HNSCC(35;0.089) 28 63 7.41945e-09 1.462e-08 0.005443 1 0 IL15 3600 broad.mit.edu 37 4 142653921 142653921 + Missense_Mutation SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:142653921G>C ENST00000477265.1 + 7 5336 c.328G>C c.(328-330)Gag>Cag p.E110Q IL15_ENST00000394159.1_Missense_Mutation_p.E110Q|IL15_ENST00000296545.7_Missense_Mutation_p.E137Q|IL15_ENST00000529613.1_Missense_Mutation_p.E137Q|IL15_ENST00000514653.1_Missense_Mutation_p.E110Q|IL15_ENST00000320650.4_Missense_Mutation_p.E137Q P40933 IL15_HUMAN interleukin 15 137 cell-cell signaling|immune response|positive regulation of interleukin-17 production endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus cytokine activity|cytokine receptor binding|signal transducer activity p.E137Q(1) kidney(1)|large_intestine(1)|lung(2)|stomach(1) 5 all_hematologic(180;0.158) CAAAGAATGTGAGGAACTGGA 0.284000 45 99 0 0 0.003610 0 0 NPAP1 23742 broad.mit.edu 37 15 24921606 24921606 + Missense_Mutation SNP G G T rs150016698 TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr15:24921606G>T ENST00000329468.2 + 1 1066 c.592G>T c.(592-594)Gtg>Ttg p.V198L NM_018958.2 NP_061831.2 nuclear pore associated protein 1 p.V198L(1) CCAGGGAGACGTGGCCTCCTT 0.597000 6 18 3.59834e-05 6.04078e-05 0.001168 1 0 ZNF91 7644 broad.mit.edu 37 19 23557440 23557440 + Splice_Site SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:23557440C>A ENST00000300619.7 - 2 362 c.157_splice c.e2+1 p.G53_splice ZNF91_ENST00000599743.1_Splice_Site_p.G53_splice|ZNF91_ENST00000397082.2_Splice_Site_p.G53_splice NM_003430.2 NP_003421.2 Q05481 ZNF91_HUMAN zinc finger protein 91 53 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G53C(1) all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TTTTCCTTACCCAGGAAGGCC 0.348000 12 98 7.03913e-09 1.39162e-08 0.001368 1 0 PPARD 5467 broad.mit.edu 37 6 35393636 35393636 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:35393636G>T ENST00000311565.4 + 9 1455 c.1106G>T c.(1105-1107)cGg>cTg p.R369L PPARD_ENST00000448077.2_Missense_Mutation_p.R330L|PPARD_ENST00000360694.3_Missense_Mutation_p.R369L|PPARD_ENST00000418635.2_Missense_Mutation_p.R271L|PPARD_ENST00000540939.1_Missense_Mutation_p.R266L NM_001171818.1 NP_001165289.1 Q03181 PPARD_HUMAN peroxisome proliferator-activated receptor delta 369 Ligand-binding. apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.R369L(1) autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374) AACGTTCCACGGGTGGAGGCT 0.622000 6 54 3.59834e-05 6.04078e-05 0.001168 1 0 TTN 7273 broad.mit.edu 37 2 179567381 179567381 + Missense_Mutation SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:179567381A>G ENST00000589042.1 - 107 30457 c.30233T>C c.(30232-30234)aTt>aCt p.I10078T TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I9761T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I8834T|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9761 Glu-rich. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.I8834T(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGTAAACTGAATTGGTTCAGC 0.383000 13 65 0 0 0.001368 0 0 PTCHD2 57540 broad.mit.edu 37 1 11561596 11561596 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:11561596C>A ENST00000294484.6 + 2 685 c.547C>A c.(547-549)Cca>Aca p.P183T PTCHD2_ENST00000389575.3_Missense_Mutation_p.P183T NM_020780.1 NP_065831.1 Q9P2K9 PTHD2_HUMAN patched domain containing 2 183 cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity p.P400T(1) NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 76 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) ACTCGGTGGCCCAGGCCCTTA 0.692000 7 13 8.12818e-05 0.000135696 0.001984 1 0 ALMS1 7840 broad.mit.edu 37 2 73677777 73677777 + Missense_Mutation SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:73677777A>G ENST00000264448.6 + 8 4231 c.4120A>G c.(4120-4122)Act>Gct p.T1374A ALMS1_ENST00000409009.1_Missense_Mutation_p.T1332A|ALMS1_ENST00000377715.1_Missense_Mutation_p.T1374A NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1374 34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.T1374A(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGGCACACCAACTGTAACCTC 0.443000 3 178 0 0 0.004672 0 0 PLCB1 23236 broad.mit.edu 37 20 8722135 8722135 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:8722135C>G ENST00000378641.3 + 23 2913 c.2438C>G c.(2437-2439)cCa>cGa p.P813R PLCB1_ENST00000338037.6_Missense_Mutation_p.P813R|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.P813R NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 813 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity p.P813R(2) NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TTATCAAACCCAATCCGATAT 0.383000 7 34 0 0 0.001984 0 0 RAPSN 5913 broad.mit.edu 37 11 47464332 47464332 + Missense_Mutation SNP G G A rs121909257 TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:47464332G>A ENST00000298854.2 - 3 779 c.566C>T c.(565-567)gCg>gTg p.A189V RAPSN_ENST00000529341.1_Missense_Mutation_p.A189V|RAPSN_ENST00000524487.1_Intron|RAPSN_ENST00000352508.3_Missense_Mutation_p.A189V NM_005055.4 NP_005046.2 Q13702 RAPSN_HUMAN receptor-associated protein of the synapse 189 A -> V (in FADS). synaptic transmission, cholinergic cell junction|cytoskeleton|postsynaptic membrane acetylcholine receptor binding|zinc ion binding p.A189V(1) endometrium(1)|large_intestine(3)|lung(6)|ovary(2) 12 AAGCTCTGCCGCCTTGCAGGG 0.607000 23 68 0 0 0.003330 0 0 CACNA1I 8911 broad.mit.edu 37 22 40066959 40066959 + Splice_Site SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr22:40066959G>C ENST00000336649.4 + 29 4557 c.4557_splice c.e29+1 p.T1519_splice CACNA1I_ENST00000401624.1_Splice_Site_p.T1513_splice|CACNA1I_ENST00000400164.3_Splice_Site_p.T1478_splice|CACNA1I_ENST00000407673.1_Splice_Site_p.T1478_splice|CACNA1I_ENST00000404898.1_Splice_Site_p.T1478_splice|CACNA1I_ENST00000402142.3_Splice_Site_p.T1513_splice Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, alpha 1I subunit 1513 axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding p.T1513T(1)|p.T1478T(1) breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) ATCAGCCCACGGTGAGCCCTG 0.587000 11 34 0 0 0.008291 0 0 CD1A 909 broad.mit.edu 37 1 158226720 158226720 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:158226720G>T ENST00000289429.5 + 4 1282 c.749G>T c.(748-750)gGg>gTg p.G250V NM_001763.2 NP_001754.2 P06126 CD1A_HUMAN CD1a molecule 250 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex p.G250V(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) ACTCAGCGAGGGGACATCTTG 0.627000 29 84 5.45727e-16 1.32786e-15 0.008361 1 0 MTNR1A 4543 broad.mit.edu 37 4 187455689 187455689 + Missense_Mutation SNP T T G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:187455689T>G ENST00000307161.5 - 2 408 c.207A>C c.(205-207)ttA>ttC p.L69F RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 69 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity p.L69F(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CTGCCACCGCTAAGCTCACCA 0.458000 12 28 0 0 0.002450 0 0 MUC5B 727897 broad.mit.edu 37 11 1272646 1272646 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:1272646T>C ENST00000447027.1 + 31 14603 c.14545T>C c.(14545-14547)Tgg>Cgg p.W4849R MUC5B_ENST00000529681.1_Missense_Mutation_p.W4846R Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4846 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.W4801R(1)|p.W4846R(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) AGGGACCACCTGGATCCTCAC 0.632000 27 64 0 0 0.007291 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503357 140503357 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:140503357G>T ENST00000194152.1 + 1 1777 c.1777G>T c.(1777-1779)Ggc>Tgc p.G593C NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 593 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding p.G593C(1) 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) GGCGGTGGACGGCGACTCGGG 0.716000 28 63 2.2171e-23 6.08437e-23 0.001786 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137252 40137252 + Silent SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:40137252G>C ENST00000278198.2 - 2 2554 c.591C>G c.(589-591)tcC>tcG p.S197S LRRC4C_ENST00000530763.1_Silent_p.S197S|LRRC4C_ENST00000528697.1_Silent_p.S197S|LRRC4C_ENST00000527150.1_Silent_p.S197S Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 197 regulation of axonogenesis integral to membrane protein binding p.S197S(1) NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) ACCTCAAGTTGGACAGACCTT 0.428000 8 54 0 0 0.004482 0 0 TDO2 6999 broad.mit.edu 37 4 156831356 156831356 + Nonsense_Mutation SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:156831356T>A ENST00000536354.2 + 6 675 c.611T>A c.(610-612)tTa>tAa p.L204* NM_005651.3 NP_005642.1 P48775 T23O_HUMAN tryptophan 2,3-dioxygenase 204 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity p.L204*(1) breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) CTTCTGGAATTAGTGGAGGTA 0.308000 12 67 0 0 0.001368 0 0 FFAR3 2865 broad.mit.edu 37 19 35850660 35850660 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:35850660C>A ENST00000327809.4 + 2 1069 c.868C>A c.(868-870)Ctg>Atg p.L290M FFAR3_ENST00000594310.1_Missense_Mutation_p.L290M NM_005304.3 NP_005295.1 O14843 FFAR3_HUMAN free fatty acid receptor 3 290 integral to plasma membrane G-protein coupled receptor activity|lipid binding p.L290M(1) endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1) 17 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) CTTTCATGAGCTGCTGAGGAG 0.602000 6 32 2.17888e-05 3.75216e-05 0.006214 1 0 HAUS7 55559 broad.mit.edu 37 X 152721766 152721766 + Missense_Mutation SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:152721766T>A ENST00000421080.2 - 9 1441 c.275A>T c.(274-276)cAg>cTg p.Q92L TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370219.3_Missense_Mutation_p.Q231L|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.Q231L|HAUS7_ENST00000370211.4_Missense_Mutation_p.Q221L Q99871 HAUS7_HUMAN HAUS augmin-like complex, subunit 7 231 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding p.Q231L(1) endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3) 19 CTCCTGCAGCTGCCTGGCAAG 0.627000 8 51 0 0 0.000978 0 0 ITIH6 347365 broad.mit.edu 37 X 54817333 54817333 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:54817333C>A ENST00000218436.6 - 4 582 c.553G>T c.(553-555)Ggc>Tgc p.G185C NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 185 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity p.G185C(1) TAGGAGATGCCTGTCCTTTCT 0.587000 28 37 4.59853e-10 9.43248e-10 0.005443 1 0 MSH2 4436 broad.mit.edu 37 2 47690292 47690292 + Splice_Site SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:47690292T>C ENST00000406134.1 + 9 1571 c.1510_splice c.e9+1 p.L503_splice MSH2_ENST00000543555.1_Splice_Site_p.L437_splice|MSH2_ENST00000233146.2_Splice_Site_p.L503_splice P43246 MSH2_HUMAN mutS homolog 2 503 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.0?(2)|p.?(2)|p.L503L(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1) 112 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CCAGAGATCTTGGTAAGAATG 0.338000 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian""" """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 23 81 0 0 0.005443 0 0 PPT2-EGFL8 100532746 broad.mit.edu 37 6 32130370 32130370 + Nonsense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:32130370G>T ENST00000422437.1 + 8 927 c.736G>T c.(736-738)Gag>Tag p.E246* PPT2_ENST00000445576.2_Nonsense_Mutation_p.E246*|PPT2_ENST00000324816.6_Nonsense_Mutation_p.E246*|PPT2_ENST00000375143.2_Nonsense_Mutation_p.E246*|PPT2_ENST00000437001.2_Nonsense_Mutation_p.E123*|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000375137.2_Nonsense_Mutation_p.E246*|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000361568.2_Nonsense_Mutation_p.E252*|PPT2_ENST00000395523.1_Nonsense_Mutation_p.E246* p.E252*(1) TGATGCAAATGAGACCGTCCT 0.542000 33 218 1.57351e-24 4.33799e-24 0.003755 1 0 ATP5EP2 432369 broad.mit.edu 37 13 28519480 28519480 + Missense_Mutation SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr13:28519480G>C ENST00000381026.3 + 1 138 c.84G>C c.(82-84)aaG>aaC p.K28N p.K28N(1) ovary(1) 1 ATGCACTGAAGACAGAATTCA 0.443000 6 13 0 0 0.001168 0 0 GALNT13 114805 broad.mit.edu 37 2 155265538 155265538 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:155265538C>A ENST00000392825.3 + 11 1906 c.1339C>A c.(1339-1341)Cgc>Agc p.R447S GALNT13_ENST00000409237.1_Missense_Mutation_p.R447S|GALNT13_ENST00000487047.1_3'UTR NM_052917.2 NP_443149.2 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) 447 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.R447S(1) NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 65 CAACATGGGCCGCAAGGAAAA 0.368000 31 72 1.42033e-22 3.84513e-22 0.004289 1 0 ADAMTS3 9508 broad.mit.edu 37 4 73149142 73149142 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:73149142C>A ENST00000286657.4 - 22 3365 c.3329G>T c.(3328-3330)gGa>gTa p.G1110V NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1110 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding p.G1110V(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ATTTGGACCTCCCACTGAAGA 0.463000 15 78 1.15088e-07 2.20279e-07 0.004007 1 0 FAM135B 51059 broad.mit.edu 37 8 139163840 139163840 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:139163840G>A ENST00000395297.1 - 13 3048 c.2878C>T c.(2878-2880)Cct>Tct p.P960S NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 960 p.P960S(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ATAATGCAAGGTGAACCGCTT 0.507000 HNSCC(54;0.14) 40 147 0 0 0.002522 0 0 CABIN1 23523 broad.mit.edu 37 22 24487629 24487629 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr22:24487629G>T ENST00000398319.2 + 24 4003 c.3618G>T c.(3616-3618)tgG>tgT p.W1206C CABIN1_ENST00000405822.2_Missense_Mutation_p.W1156C|CABIN1_ENST00000263119.5_Missense_Mutation_p.W1206C NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 1206 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity p.W1206C(1) breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 AGGAGGAGTGGCTCATCCACT 0.602000 13 56 1.61879e-10 3.34328e-10 0.001368 1 0 SOX5 6660 broad.mit.edu 37 12 23757422 23757422 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:23757422C>G ENST00000546136.1 - 8 1026 c.1024G>C c.(1024-1026)Ggg>Cgg p.G342R SOX5_ENST00000381381.2_Missense_Mutation_p.G342R|SOX5_ENST00000541536.1_Missense_Mutation_p.G342R|SOX5_ENST00000545921.1_Missense_Mutation_p.G345R|SOX5_ENST00000537393.1_Missense_Mutation_p.G320R|SOX5_ENST00000309359.1_Missense_Mutation_p.G342R|SOX5_ENST00000451604.2_Missense_Mutation_p.G355R P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 355 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.G355R(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3) 57 GGCAGCTTCCCTCCTGGAGAT 0.473000 3 103 0 0 0.004672 0 0 OR5H6 79295 broad.mit.edu 37 3 97983970 97983970 + Missense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:97983970C>T ENST00000383696.2 + 1 883 c.842C>T c.(841-843)cCg>cTg p.P281L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005479.1 NP_001005479.1 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene) 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P281L(1) cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 TCTGCATCTCCGCAAGCAGAT 0.423000 18 60 0 0 0.006122 0 0 MXRA5 25878 broad.mit.edu 37 X 3228256 3228256 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:3228256C>G ENST00000217939.6 - 7 8142 c.7988G>C c.(7987-7989)gGg>gCg p.G2663A NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2663 Ig-like C2-type 11. extracellular region p.G2663A(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTGCCCAGCCCCGGGAGGGGT 0.592000 30 76 0 0 0.003271 0 0 AHSP 51327 broad.mit.edu 37 16 31539817 31539817 + Silent SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:31539817G>C ENST00000302312.4 + 3 217 c.114G>C c.(112-114)gtG>gtC p.V38V AHSP_ENST00000569954.1_3'UTR NM_016633.2 NP_057717.1 Q9NZD4 AHSP_HUMAN alpha hemoglobin stabilizing protein 38 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding p.V38V(1) lung(2) 2 AAGACATGGTGACTGTGGTGG 0.547000 19 85 0 0 0.007413 0 0 SGMS1 259230 broad.mit.edu 37 10 52103484 52103484 + Nonsense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:52103484C>A ENST00000361781.2 - 7 1350 c.391G>T c.(391-393)Gag>Tag p.E131* SGMS1_ENST00000429490.1_Intron|SGMS1_ENST00000361543.2_Nonsense_Mutation_p.E131* NM_147156.3 NP_671512.1 Q86VZ5 SMS1_HUMAN sphingomyelin synthase 1 137 apoptosis|cell growth|sphingomyelin biosynthetic process endoplasmic reticulum|Golgi trans cisterna|integral to Golgi membrane|nucleus|plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity p.E131*(1) endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 16 TTGCCCCACTCCATGGGGTAC 0.488000 36 78 5.71845e-15 1.35307e-14 0.005524 1 0 ZFHX3 463 broad.mit.edu 37 16 72984794 72984794 + Silent SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:72984794C>G ENST00000268489.5 - 3 3462 c.2790G>C c.(2788-2790)ctG>ctC p.L930L ZFHX3_ENST00000397992.5_Silent_p.L16L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 930 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding p.L930L(1) NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) AGCTCTCGCCCAGGTTCATCA 0.622000 22 55 0 0 0.002780 0 0 CSMD3 114788 broad.mit.edu 37 8 113518953 113518953 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:113518953T>C ENST00000297405.5 - 29 5106 c.4862A>G c.(4861-4863)aAt>aGt p.N1621S CSMD3_ENST00000352409.3_Missense_Mutation_p.N1621S|CSMD3_ENST00000455883.2_Missense_Mutation_p.N1517S|CSMD3_ENST00000343508.3_Missense_Mutation_p.N1581S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1621 CUB 9. integral to membrane|plasma membrane p.N1581S(1)|p.N1621S(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATAGTCTGCATTGACGGTGAT 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 63 0 0 0.001786 0 0 OR5M3 219482 broad.mit.edu 37 11 56237227 56237227 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:56237227G>T ENST00000312240.2 - 1 787 c.747C>A c.(745-747)ttC>ttA p.F249L NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 249 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F249L(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) GAGTACCATAGAATATAATGA 0.488000 15 41 2.31682e-05 3.96698e-05 0.003163 1 0 TTN 7273 broad.mit.edu 37 2 179482722 179482722 + Nonsense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:179482722C>A ENST00000589042.1 - 253 47580 c.47356G>T c.(47356-47358)Gga>Tga p.G15786* TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.G14145*|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.G6721*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.G6846*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.G13218*|TTN_ENST00000342175.6_Nonsense_Mutation_p.G6913* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14145 Fibronectin type-III 14. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.G13218*(2)|p.G6913*(1)|p.G6721*(1)|p.G6846*(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCAGCACCTCCATCATACTCT 0.463000 12 114 3.07112e-06 5.49328e-06 0.000978 1 0 ATP1A4 480 broad.mit.edu 37 1 160156112 160156112 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:160156112G>T ENST00000368081.4 + 21 3487 c.3016G>T c.(3016-3018)Gtc>Ttc p.V1006F ATP1A4_ENST00000470705.1_Missense_Mutation_p.V142F NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 1006 ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). 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 p.V1006F(1) 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) TCTCATCTTCGTCTATGATGA 0.557000 80 256 2.43828e-56 7.07927e-56 0.003610 1 0 SPRY3 10251 broad.mit.edu 37 X 155003662 155003662 + Silent SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:155003662C>G ENST00000302805.2 + 2 560 c.129C>G c.(127-129)tcC>tcG p.S43S NM_005840.1 NP_005831.1 O43610 SPY3_HUMAN sprouty homolog 3 (Drosophila) 43 multicellular organismal development|regulation of signal transduction cytoplasm|membrane p.S43S(1) all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCAGCCCTTCCCTTATTGTGC 0.547000 25 97 0 0 0.006320 0 0 MYO19 80179 broad.mit.edu 37 17 34864956 34864956 + Silent SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:34864956T>C ENST00000431794.3 - 14 1698 c.1176A>G c.(1174-1176)gtA>gtG p.V392V MYO19_ENST00000268852.9_Silent_p.V392V NM_001163735.1 NP_001157207.1 Q96H55 MYO19_HUMAN myosin XIX 392 Myosin head-like. mitochondrial outer membrane|myosin complex actin binding|ATP binding|motor activity p.V392V(2) endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1) 20 Breast(25;0.00957)|Ovarian(249;0.17) Kidney(155;0.104) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) TGATCACTGATACCAGCCAGT 0.532000 7 19 0 0 0.004482 0 0 TOP2B 7155 broad.mit.edu 37 3 25654005 25654005 + Splice_Site SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:25654005C>A ENST00000435706.2 - 28 3973 c.e28+1 TOP2B_ENST00000540199.1_Splice_Site|TOP2B_ENST00000542520.1_Splice_Site|TOP2B_ENST00000264331.4_Splice_Site Q02880 TOP2B_HUMAN topoisomerase (DNA) II beta 180kDa DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity p.?(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1) 36 GTATGTCATACCTTCTTCTTC 0.323000 26 103 7.26314e-15 1.71182e-14 0.007291 1 0 SF3A1 10291 broad.mit.edu 37 22 30735151 30735151 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr22:30735151C>A ENST00000439242.1 - 10 1401 c.1270G>T c.(1270-1272)Ggt>Tgt p.G424C SF3A1_ENST00000215793.7_Missense_Mutation_p.G489C NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 489 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding p.G489C(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 TCCTCCTCACCGATCTTCTTA 0.512000 45 104 2.215e-12 4.78855e-12 0.002852 1 0 BOC 91653 broad.mit.edu 37 3 112969439 112969439 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:112969439C>T ENST00000495514.1 + 4 839 c.135C>T c.(133-135)acC>acT p.T45T BOC_ENST00000273395.4_Silent_p.T45T|BOC_ENST00000484034.1_Silent_p.T45T|BOC_ENST00000355385.3_Silent_p.T45T|BOC_ENST00000485230.1_Silent_p.T45T Q9BWV1 BOC_HUMAN BOC cell adhesion associated, oncogene regulated 45 Ig-like C2-type 1. cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding p.T45T(1) NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 Epithelial(53;0.227) CTGCGTCCACCGTCCAGAAGC 0.562000 8 59 0 0 0.003080 0 0 A1CF 29974 broad.mit.edu 37 10 52595888 52595888 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:52595888C>A ENST00000395489.2 - 8 925 c.529G>T c.(529-531)Gtg>Ttg p.V177L A1CF_ENST00000395495.1_Missense_Mutation_p.V184L|A1CF_ENST00000374001.1_Missense_Mutation_p.V184L|A1CF_ENST00000373995.3_Missense_Mutation_p.V192L|A1CF_ENST00000373993.1_Missense_Mutation_p.V184L|A1CF_ENST00000373997.3_Missense_Mutation_p.V184L|A1CF_ENST00000282641.2_Missense_Mutation_p.V184L NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 184 RRM 2. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding p.V184L(1)|p.V192L(1) NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TCATACTCCACGAAGGCAAAG 0.488000 11 124 2.27111e-07 4.26543e-07 0.001368 1 0 STK11 6794 broad.mit.edu 37 19 1220410 1220410 + Missense_Mutation SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:1220410A>G ENST00000326873.7 + 4 1676 c.503A>G c.(502-504)cAt>cGt p.H168R NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 168 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.H168R(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) GAGTACCTGCATAGCCAGGGC 0.647000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 3 5 0 0 0.004672 0 0 RNF31 55072 broad.mit.edu 37 14 24619313 24619313 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr14:24619313C>T ENST00000324103.6 + 7 1173 c.853C>T c.(853-855)Ctg>Ttg p.L285L RNF31_ENST00000382687.3_Silent_p.L134L|RNF31_ENST00000559275.1_Silent_p.L134L NM_017999.4 NP_060469.4 Q96EP0 RNF31_HUMAN ring finger protein 31 285 Polyubiquitin-binding. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding p.L285L(1) breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1) 39 GBM - Glioblastoma multiforme(265;0.00861) GACCTCCCTGCTGGCCCTGGG 0.582000 19 76 0 0 0.001882 0 0 CPS1 1373 broad.mit.edu 37 2 211515108 211515108 + Silent SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:211515108A>T ENST00000233072.5 + 28 3622 c.3426A>T c.(3424-3426)gtA>gtT p.V1142V CPS1_ENST00000430249.2_Silent_p.V1148V|CPS1_ENST00000451903.2_Silent_p.V691V NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1142 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.V1148V(1)|p.V1142V(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGAATGTGGTATTCTCTGAGG 0.398000 10 75 0 0 0.008291 0 0 FAM127C 441518 broad.mit.edu 37 X 134156366 134156366 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:134156366C>G ENST00000391440.1 - 1 193 c.124G>C c.(124-126)Gag>Cag p.E42Q NM_001078173.1 NP_001071641.1 Q17RB0 F127C_HUMAN family with sequence similarity 127, member C 42 p.E42Q(1) breast(1)|endometrium(2)|large_intestine(1)|lung(2) 6 Acute lymphoblastic leukemia(192;0.000127) ACGATGAACTCCGGGAGCCGG 0.652000 21 87 0 0 0.008871 0 0 SYNE1 23345 broad.mit.edu 37 6 152647561 152647561 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:152647561G>A ENST00000367255.5 - 79 15764 c.15163C>T c.(15163-15165)Ctg>Ttg p.L5055L SYNE1_ENST00000448038.1_Silent_p.L4984L|SYNE1_ENST00000265368.4_Silent_p.L5055L|SYNE1_ENST00000341594.5_Silent_p.L4802L|SYNE1_ENST00000423061.1_Silent_p.L4984L NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5055 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding p.L5055L(2)|p.L4984L(1) NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GTGGCTACCAGGCTGTGGAGC 0.527000 HNSCC(10;0.0054) 24 52 0 0 0.002780 0 0 GABRG1 2565 broad.mit.edu 37 4 46099357 46099357 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:46099357C>A ENST00000295452.4 - 2 281 c.114G>T c.(112-114)aaG>aaT p.K38N NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 38 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.K38N(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CATCATCTGCCTTATCAACAC 0.323000 32 122 1.84765e-07 3.51404e-07 0.003755 1 0 NLRP12 91662 broad.mit.edu 37 19 54314284 54314284 + Missense_Mutation SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:54314284G>C ENST00000324134.6 - 3 797 c.629C>G c.(628-630)cCg>cGg p.P210R NLRP12_ENST00000391772.1_Missense_Mutation_p.P210R|NLRP12_ENST00000391773.1_Missense_Mutation_p.P210R|NLRP12_ENST00000391775.3_Missense_Mutation_p.P210R|NLRP12_ENST00000354278.3_Missense_Mutation_p.P210R|NLRP12_ENST00000345770.5_Missense_Mutation_p.P210R|NLRP12_ENST00000535162.1_Missense_Mutation_p.P210R|NLRP12_ENST00000351894.4_Missense_Mutation_p.P210R NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 210 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.P210R(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CACGGTGCGCGGTGGCTCGGG 0.647000 21 62 0 0 0.001882 0 0 ADAM32 203102 broad.mit.edu 37 8 39009054 39009054 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:39009054T>C ENST00000379907.4 + 6 639 c.512T>C c.(511-513)tTt>tCt p.F171S ADAM32_ENST00000437682.2_Missense_Mutation_p.F178S|ADAM32_ENST00000519315.1_Missense_Mutation_p.F171S NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 171 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding p.F171S(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) GACAACATTTTTATAAGTGAA 0.254000 20 61 0 0 0.001523 0 0 GFRAL 389400 broad.mit.edu 37 6 55196632 55196632 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:55196632G>T ENST00000340465.2 + 2 228 c.142G>T c.(142-144)Gcc>Tcc p.A48S NM_207410.2 NP_997293.2 Q6UXV0 GFRAL_HUMAN GDNF family receptor alpha like 48 integral to membrane receptor activity p.A48S(1) NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 48 Lung NSC(77;0.0875)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AATGGAAGATGCCTGCAATGA 0.313000 15 18 1.05317e-09 2.12401e-09 0.002450 1 0 SLITRK5 26050 broad.mit.edu 37 13 88330080 88330080 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr13:88330080C>A ENST00000325089.6 + 2 2656 c.2437C>A c.(2437-2439)Ctg>Atg p.L813M SLITRK5_ENST00000400028.3_Missense_Mutation_p.L572M NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 813 integral to membrane p.L813M(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) cccgccgcagctgcagctgca 0.706000 6 5 0.00198382 0.00313757 0.001984 1 0 LUC7L 55692 broad.mit.edu 37 16 239997 239997 + Missense_Mutation SNP C C A rs146490197 TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:239997C>A ENST00000337351.4 - 9 1067 c.944G>T c.(943-945)cGg>cTg p.R315L LUC7L_ENST00000397780.1_Missense_Mutation_p.R262L|LUC7L_ENST00000397783.1_Missense_Mutation_p.R315L|LUC7L_ENST00000293872.8_Missense_Mutation_p.R315L NM_018032.3 NP_060502.1 Q9NQ29 LUC7L_HUMAN LUC7-like (S. cerevisiae) 315 Arg/Ser-rich. metal ion binding p.R315L(2)|p.R315Q(1) NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 11 all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306) CCGGGAAGCCCGACGATGTCC 0.617000 29 128 1.06801e-11 2.29241e-11 0.001786 1 0 TEX11 56159 broad.mit.edu 37 X 70080747 70080747 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:70080747G>T ENST00000395889.2 - 6 484 c.329C>A c.(328-330)gCc>gAc p.A110D TEX11_ENST00000374333.2_Missense_Mutation_p.A95D|TEX11_ENST00000344304.3_Missense_Mutation_p.A110D NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 110 protein binding p.A95D(1) breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) GGCAAATGAGGCTTCACACAT 0.338000 9 32 1.12685e-05 1.96871e-05 0.004482 1 0 PTX4 390667 broad.mit.edu 37 16 1537689 1537689 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:1537689C>A ENST00000447419.2 - 2 449 c.424G>T c.(424-426)Gca>Tca p.A142S PTX4_ENST00000293922.1_Missense_Mutation_p.A137S|PTX4_ENST00000440447.2_Intron Q96A99 PTX4_HUMAN pentraxin 4, long 142 extracellular region metal ion binding p.A137S(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 17 GCCTTGTGTGCCTTCCTTTCC 0.711000 3 28 0.004672 0.00729317 0.004672 1 0 MROH2B 133558 broad.mit.edu 37 5 41019088 41019088 + Missense_Mutation SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:41019088T>A ENST00000399564.4 - 25 2924 c.2474A>T c.(2473-2475)cAc>cTc p.H825L MROH2B_ENST00000506092.2_Missense_Mutation_p.H380L NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.H825L(1) AATGTTAAGGTGGTCTTGTAG 0.463000 13 30 0 0 0.001855 0 0 RBM19 9904 broad.mit.edu 37 12 114374917 114374917 + Nonsense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:114374917C>A ENST00000545145.2 - 16 2041 c.1963G>T c.(1963-1965)Gag>Tag p.E655* RBM19_ENST00000261741.5_Nonsense_Mutation_p.E655*|RBM19_ENST00000392561.3_Nonsense_Mutation_p.E655*|RP11-780K2.1_ENST00000550206.1_RNA NM_001146699.1 NP_001140171.1 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 655 RRM 4. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding p.E655*(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4) 55 Medulloblastoma(191;0.163)|all_neural(191;0.178) GGAGCCCACTCCAGATAGAGG 0.547000 15 70 2.61681e-11 5.5377e-11 0.002450 1 0 TRPC4 7223 broad.mit.edu 37 13 38357466 38357466 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr13:38357466G>T ENST00000379705.3 - 2 862 c.5C>A c.(4-6)gCt>gAt p.A2D TRPC4_ENST00000338947.5_Missense_Mutation_p.A2D|TRPC4_ENST00000379679.1_Missense_Mutation_p.A2D|TRPC4_ENST00000355779.2_Missense_Mutation_p.A2D|TRPC4_ENST00000379681.3_Missense_Mutation_p.A2D|TRPC4_ENST00000358477.2_Missense_Mutation_p.A2D|TRPC4_ENST00000426868.2_Missense_Mutation_p.A2D|TRPC4_ENST00000447043.1_Missense_Mutation_p.A2D|TRPC4_ENST00000379673.2_Missense_Mutation_p.A2D Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, subfamily C, member 4 2 axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity p.A2D(2) NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) ATAGAACTGAGCCATGTTTCA 0.358000 13 53 0.00010058 0.000166985 0.001368 1 0 CARD11 84433 broad.mit.edu 37 7 2959089 2959089 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:2959089C>T ENST00000396946.4 - 18 2830 c.2427G>A c.(2425-2427)caG>caA p.Q809Q NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 809 positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.Q802Q(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CGTGCCTGTCCTGGTACATGG 0.592000 Mis DLBCL 11 26 0 0 0.008291 0 0 PSAP 5660 broad.mit.edu 37 10 73579616 73579616 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:73579616C>A ENST00000394936.3 - 10 1194 c.1047G>T c.(1045-1047)ctG>ctT p.L349L PSAP_ENST00000394934.1_Silent_p.L351L P07602 SAP_HUMAN prosaposin 349 Saposin B-type 3. L -> P (in AGD). glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen enzyme activator activity|lipid binding p.L349L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 13 GGGACTTCGGCAGCTTCGAGC 0.572000 10 21 1.58986e-06 2.86939e-06 0.008291 1 0 NCOA4 8031 broad.mit.edu 37 10 51585241 51585241 + Missense_Mutation SNP A A G rs61754798 byFrequency TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:51585241A>G ENST00000452682.1 + 9 1640 c.1388A>G c.(1387-1389)aAa>aGa p.K463R NCOA4_ENST00000443446.1_Missense_Mutation_p.K447R|NCOA4_ENST00000414907.2_Missense_Mutation_p.K281R|NCOA4_ENST00000438493.1_Missense_Mutation_p.K463R|NCOA4_ENST00000374082.1_Missense_Mutation_p.K447R|NCOA4_ENST00000374087.4_Missense_Mutation_p.K447R|NCOA4_ENST00000430396.2_Missense_Mutation_p.K347R|NCOA4_ENST00000344348.6_Missense_Mutation_p.K447R NM_001145260.1 NP_001138732.1 Q13772 NCOA4_HUMAN nuclear receptor coactivator 4 447 androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus androgen receptor binding|transcription coactivator activity p.K463R(1) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1) 5 GTGGAACCCAAACCTGAGCCT 0.428000 T RET papillary thyroid 3 198 0 0 0.004672 0 0 ZNF37A 7587 broad.mit.edu 37 10 38403681 38403681 + Splice_Site SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:38403681A>G ENST00000351773.3 + 6 845 c.e6-1 ZNF37A_ENST00000361085.4_Splice_Site|ZNF37A_ENST00000479469.1_Splice_Site NM_001007094.2 NP_001007095.1 P17032 ZN37A_HUMAN zinc finger protein 37A nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2) NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1) 28 GTGATTTTCCAGGGATCAGTG 0.428000 29 133 0 0 0.001786 0 0 TTC17 55761 broad.mit.edu 37 11 43436154 43436154 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:43436154G>A ENST00000039989.4 + 16 2093 c.2079G>A c.(2077-2079)ttG>ttA p.L693L TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.L693L NM_018259.5 NP_060729.2 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 693 binding p.L693L(1) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3) 53 TGACCTTTTTGAGCCTGGGAA 0.393000 28 166 0 0 0.008361 0 0 NRXN3 9369 broad.mit.edu 37 14 80164043 80164043 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr14:80164043C>A ENST00000281127.7 + 4 1551 c.672C>A c.(670-672)ttC>ttA p.F224L NRXN3_ENST00000335750.5_Missense_Mutation_p.F856L|NRXN3_ENST00000554719.1_Missense_Mutation_p.F856L|NRXN3_ENST00000557594.1_Missense_Mutation_p.F224L|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Missense_Mutation_p.F254L|NRXN3_ENST00000556003.1_Intron NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 224 Laminin G-like. angiogenesis|cell adhesion integral to membrane p.F254L(1)|p.F856L(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GACGCCTCTTCCAAGGCCAAC 0.473000 23 67 1.64293e-13 3.67064e-13 0.003330 1 0 CACNA2D3 55799 broad.mit.edu 37 3 54603989 54603989 + Missense_Mutation SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:54603989A>T ENST00000474759.1 + 8 794 c.746A>T c.(745-747)cAg>cTg p.Q249L CACNA2D3_ENST00000288197.5_Missense_Mutation_p.Q249L|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.Q155L|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.Q249L NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 249 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity p.Q249L(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) AGGTACATCCAGGCAGCAACT 0.423000 12 65 0 0 0.001368 0 0 C15orf59 388135 broad.mit.edu 37 15 74032550 74032550 + Missense_Mutation SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr15:74032550A>G ENST00000569673.1 - 3 1794 c.590T>C c.(589-591)cTg>cCg p.L197P C15orf59_ENST00000379822.4_Missense_Mutation_p.L197P|C15orf59_ENST00000558834.1_5'UTR Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 197 p.L197P(1) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 gtcACAGCACAGAGCATGGTA 0.652000 9 25 0 0 0.006214 0 0 ABCB11 8647 broad.mit.edu 37 2 169792745 169792745 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:169792745C>G ENST00000263817.6 - 22 2933 c.2809G>C c.(2809-2811)Gga>Cga p.G937R NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 937 ABC transmembrane type-1 2. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism p.G937R(1) breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) ATTACCTGTCCCACCATCTCC 0.473000 6 37 0 0 0.001168 0 0 DHX57 90957 broad.mit.edu 37 2 39088243 39088243 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:39088243C>A ENST00000295373.6 - 5 1435 c.1309G>T c.(1309-1311)Gtg>Ttg p.V437L DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 437 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding p.V437L(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) AGAAAGTTCACAGGAGGGTCA 0.383000 46 90 2.81731e-22 7.55894e-22 0.003610 1 0 FAT2 2196 broad.mit.edu 37 5 150922135 150922135 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:150922135G>T ENST00000261800.5 - 9 8565 c.8553C>A c.(8551-8553)gaC>gaA p.D2851E NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 2851 Cadherin 25. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding p.D2851E(1) NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CACTCTCACTGTCAATGGCAA 0.522000 22 61 1.55795e-14 3.62917e-14 0.001882 1 0 CILP 8483 broad.mit.edu 37 15 65499179 65499179 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr15:65499179C>G ENST00000261883.4 - 4 531 c.365G>C c.(364-366)aGg>aCg p.R122T NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 122 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix p.R122T(1) breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 CCGCTGCTCCCTGTTGAGGCA 0.642000 15 26 0 0 0.002450 0 0 SERPINB4 6318 broad.mit.edu 37 18 61305167 61305167 + Missense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr18:61305167C>T ENST00000341074.5 - 8 1074 c.959G>A c.(958-960)aGc>aAc p.S320N SERPINB4_ENST00000356424.6_Missense_Mutation_p.S268N NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 p.S320N(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 GAGACCGTGGCTCCAGGTCAT 0.507000 10 65 0 0 0.000978 0 0 WNT3A 89780 broad.mit.edu 37 1 228238405 228238405 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:228238405C>A ENST00000284523.1 + 3 440 c.362C>A c.(361-363)gCc>gAc p.A121D WNT3A_ENST00000366753.2_Missense_Mutation_p.A121D NM_033131.3 NP_149122.1 P56704 WNT3A_HUMAN wingless-type MMTV integration site family, member 3A 121 axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity p.A121D(1) kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1) 12 Prostate(94;0.0405) GCCGGTGTGGCCTTTGCAGTG 0.632000 16 41 1.5739e-10 3.27305e-10 0.004007 1 0 COL7A1 1294 broad.mit.edu 37 3 48603991 48603991 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:48603991C>A ENST00000328333.8 - 112 8417 c.8310G>T c.(8308-8310)cgG>cgT p.R2770R COL7A1_ENST00000454817.1_Silent_p.R2738R NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2770 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity p.R2770R(1) NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CAGGCCCTGGCCGCCCCTATG 0.647000 13 74 2.31682e-05 3.96698e-05 0.003163 1 0 GRIN2A 2903 broad.mit.edu 37 16 9934526 9934526 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:9934526G>A ENST00000396573.2 - 8 1938 c.1629C>T c.(1627-1629)acC>acT p.T543T GRIN2A_ENST00000404927.2_Silent_p.T543T|GRIN2A_ENST00000535259.1_Silent_p.T386T|GRIN2A_ENST00000562109.1_Silent_p.T543T|GRIN2A_ENST00000330684.3_Silent_p.T543T|GRIN2A_ENST00000396575.2_Silent_p.T543T NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 543 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T543T(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) AAGGTGAGACGGTGCCATTAC 0.453000 10 58 0 0 0.008291 0 0 SLC15A1 6564 broad.mit.edu 37 13 99337125 99337125 + Silent SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr13:99337125A>G ENST00000376503.5 - 23 2035 c.1980T>C c.(1978-1980)tgT>tgC p.C660C NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 660 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity p.C660C(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) CAAAAATTACACAGACGACCA 0.413000 3 21 0 0 0.004672 0 0 PRKCI 5584 broad.mit.edu 37 3 169953139 169953139 + Splice_Site SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:169953139G>T ENST00000295797.4 + 2 528 c.223_splice c.e2+1 p.G75_splice NM_002740.5 NP_002731.4 P41743 KPCI_HUMAN protein kinase C, iota 75 Interaction with PARD6A.|OPR.|Regulatory domain. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding p.G66*(1) breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 36 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) AGATGAGGAAGGTGAGTGGTA 0.388000 16 47 2.48551e-13 5.53255e-13 0.004990 1 0 CALCOCO1 57658 broad.mit.edu 37 12 54110043 54110043 + Splice_Site SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:54110043C>T ENST00000548263.1 - 8 1054 c.e8+1 CALCOCO1_ENST00000550804.1_Splice_Site|CALCOCO1_ENST00000262059.4_Splice_Site|CALCOCO1_ENST00000430117.2_Intron Q9P1Z2 CACO1_HUMAN calcium binding and coiled-coil domain 1 steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding p.?(1) NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 28 GCCTCACTCACCACCCGCTGC 0.572000 20 52 0 0 0.002780 0 0 CXCL16 58191 broad.mit.edu 37 17 4642104 4642104 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:4642104G>A ENST00000293778.6 - 2 670 c.248C>T c.(247-249)gCt>gTt p.A83V CXCL16_ENST00000574412.1_Missense_Mutation_p.A83V NM_022059.2 NP_071342.2 Q9H2A7 CXL16_HUMAN chemokine (C-X-C motif) ligand 16 64 Chemokine. lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor extracellular space|integral to membrane|plasma membrane chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity p.A83V(2) large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 CCGATGGTAAGCTCTCAGGTG 0.552000 10 39 0 0 0.008291 0 0 USH2A 7399 broad.mit.edu 37 1 216373189 216373189 + Silent SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:216373189G>T ENST00000366943.2 - 17 3977 c.3591C>A c.(3589-3591)tcC>tcA p.S1197S RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000307340.3_Silent_p.S1197S|USH2A_ENST00000366942.3_Silent_p.S1197S O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1197 Fibronectin type-III 2. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.S1197S(1) NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GACCTTCGTAGGAAACACATG 0.468000 HNSCC(13;0.011) 29 116 9.80776e-20 2.574e-19 0.006320 1 0 NF1 4763 broad.mit.edu 37 17 29663769 29663769 + Silent SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:29663769G>C ENST00000358273.4 + 42 6647 c.6264G>C c.(6262-6264)ctG>ctC p.L2088L NF1_ENST00000356175.3_Silent_p.L2067L NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2088 L -> P (in FSNF; null mutation; 50% reduction of protein level; no cafe-au- lait macules). actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.L2088L(4)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGCTGATGCTGTCCTTCAACA 0.433000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 25 120 0 0 0.004656 0 0 MTMR8 55613 broad.mit.edu 37 X 63490911 63490911 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:63490911C>A ENST00000374852.3 - 13 1591 c.1524G>T c.(1522-1524)caG>caT p.Q508H MTMR8_ENST00000453546.1_Intron NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 508 nuclear envelope protein tyrosine phosphatase activity p.0?(2)|p.Q508H(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 TCTGCTTGGGCTGCAGCCCTT 0.448000 13 24 9.31168e-06 1.63635e-05 0.001855 1 0 CDH22 64405 broad.mit.edu 37 20 44815504 44815504 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:44815504G>A ENST00000372262.3 - 8 1906 c.1506C>T c.(1504-1506)ccC>ccT p.P502P CDH22_ENST00000537909.1_Silent_p.P502P NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 502 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.P502P(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CTGCCTCGTAGGGTGTGGCCA 0.592000 22 110 0 0 0.003330 0 0 NELL1 4745 broad.mit.edu 37 11 20948922 20948922 + Silent SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:20948922T>C ENST00000298925.5 + 9 1065 c.912T>C c.(910-912)agT>agC p.S304S NELL1_ENST00000357134.5_Silent_p.S276S|NELL1_ENST00000325319.5_Silent_p.S219S|NELL1_ENST00000532434.1_Silent_p.S276S Q92832 NELL1_HUMAN NEL-like 1 (chicken) 276 VWFC 1. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity p.S276S(1) NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 GTCAAGTGAGTGGACTGCTCT 0.383000 9 40 0 0 0.006214 0 0 SSTR4 6754 broad.mit.edu 37 20 23017003 23017003 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:23017003G>T ENST00000255008.3 + 1 947 c.883G>T c.(883-885)Gtg>Ttg p.V295L RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 295 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.V295L(2) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CGTCAACCACGTGTCCCTTAT 0.562000 51 107 6.3237e-29 1.76769e-28 0.003610 1 0 CTAG2 30848 broad.mit.edu 37 X 153880487 153880487 + Silent SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:153880487G>T ENST00000369585.3 - 3 511 c.459C>A c.(457-459)ctC>ctA p.L153L CTAG2_ENST00000247306.4_3'UTR NM_172377.3 NP_758965.1 O75638 CTAG2_HUMAN cancer/testis antigen 2 0 centrosome p.L153L(1) central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-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) AAAGCTGCTGGAGACAGGAGC 0.587000 9 58 1.76689e-08 3.47027e-08 0.006214 1 0 CYP2A7 1549 broad.mit.edu 37 19 41383145 41383145 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:41383145C>A ENST00000301146.4 - 7 1652 c.1111G>T c.(1111-1113)Gcc>Tcc p.A371S CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.A320S NM_000764.2 NP_000755.2 P20853 CP2A7_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 7 371 endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding p.A371S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) ACCCTGCGGGCCAAACTCATG 0.547000 20 49 4.96729e-08 9.6613e-08 0.008871 1 0 KCNJ3 3760 broad.mit.edu 37 2 155711609 155711609 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:155711609G>T ENST00000295101.2 + 3 1767 c.1290G>T c.(1288-1290)ttG>ttT p.L430F NM_001260509.1|NM_002239.3 NP_001247438.1|NP_002230.1 P48549 IRK3_HUMAN potassium inwardly-rectifying channel, subfamily J, member 3 430 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding p.L430F(1) breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 54 Halothane(DB01159) CCTACAGCTTGGGAGACTTGC 0.403000 28 121 5.61819e-17 1.39526e-16 0.005443 1 0 UCP1 7350 broad.mit.edu 37 4 141483349 141483349 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:141483349C>T ENST00000262999.3 - 5 882 c.807G>A c.(805-807)aaG>aaA p.K269K NM_021833.4 NP_068605.1 P25874 UCP1_HUMAN uncoupling protein 1 (mitochondrial, proton carrier) 269 brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain integral to membrane|mitochondrial inner membrane binding p.K269K(1) NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1) 16 all_hematologic(180;0.162) TATCTTACCCCTTGAAGAAAG 0.418000 18 66 0 0 0.007413 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 5 89 0 0 0.000602 0 0 TUBB1 81027 broad.mit.edu 37 20 57599371 57599371 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:57599371C>A ENST00000217133.1 + 4 1158 c.889C>A c.(889-891)Cgc>Agc p.R297S NM_030773.3 NP_110400.1 Q9H4B7 TBB1_HUMAN tubulin, beta 1 class VI 297 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity p.R297S(1) endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2) 16 all_lung(29;0.00711) Colorectal(105;0.109) Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309) GTTCGATGCCCGCAATACCAT 0.627000 6 33 5.9392e-07 1.0983e-06 0.001168 1 0 DPP10 57628 broad.mit.edu 37 2 116525943 116525943 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:116525943G>T ENST00000410059.1 + 13 1664 c.1184G>T c.(1183-1185)cGt>cTt p.R395L DPP10_ENST00000393147.2_Missense_Mutation_p.R399L|DPP10_ENST00000409163.1_Missense_Mutation_p.R345L|DPP10_ENST00000310323.8_Missense_Mutation_p.R388L NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 395 proteolysis integral to membrane|membrane fraction serine-type peptidase activity p.R388L(1)|p.R395L(1) breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 CAAGGGGGACGTGGAGAATTT 0.458000 12 93 2.62699e-14 6.02603e-14 0.003163 1 0 ECI1 1632 broad.mit.edu 37 16 2296886 2296886 + Missense_Mutation SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:2296886T>A ENST00000301729.4 - 3 315 c.268A>T c.(268-270)Agc>Tgc p.S90C ECI1_ENST00000562238.1_Missense_Mutation_p.S90C|ECI1_ENST00000570258.1_Missense_Mutation_p.S31C NM_001919.3 NP_001910.2 P42126 ECI1_HUMAN enoyl-CoA delta isomerase 1 90 fatty acid beta-oxidation mitochondrial matrix dodecenoyl-CoA delta-isomerase activity p.S90C(1) endometrium(1)|large_intestine(2)|lung(6) 9 CCGCGGAAGCTCTTGTCATTC 0.562000 5 59 0 0 0.000602 0 0 RGS22 26166 broad.mit.edu 37 8 101011627 101011627 + Missense_Mutation SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:101011627A>G ENST00000360863.6 - 19 3006 c.2812T>C c.(2812-2814)Tgg>Cgg p.W938R RGS22_ENST00000523437.1_Missense_Mutation_p.W926R|RGS22_ENST00000523287.1_Missense_Mutation_p.W757R NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 938 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.W938R(2) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) ATCTTCCCCCAGCCACCACTT 0.363000 17 57 0 0 0.004990 0 0 MUC16 94025 broad.mit.edu 37 19 9090058 9090058 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:9090058G>T ENST00000397910.4 - 1 1960 c.1757C>A c.(1756-1758)tCt>tAt p.S586Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 586 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S586Y(2) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGTGTCTGCAGATGTTTCTTC 0.542000 14 20 9.31168e-06 1.63635e-05 0.001855 1 0 GLDC 2731 broad.mit.edu 37 9 6587241 6587241 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr9:6587241G>T ENST00000321612.6 - 15 1900 c.1750C>A c.(1750-1752)Cct>Act p.P584T NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 584 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding p.P584T(1) cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TGATCCAGAGGCACAAAGGGG 0.388000 26 47 3.73148e-12 8.03806e-12 0.007291 1 0 LMAN2 10960 broad.mit.edu 37 5 176765495 176765495 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:176765495C>A ENST00000303127.7 - 3 631 c.427G>T c.(427-429)Gtg>Ttg p.V143L LMAN2_ENST00000506310.1_5'UTR|LMAN2_ENST00000515209.1_Missense_Mutation_p.V143L NM_006816.2 NP_006807.1 Q12907 LMAN2_HUMAN lectin, mannose-binding 2 143 L-type lectin-like. protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane metal ion binding|sugar binding p.V143L(1) breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 16 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCACCTGGCACGAGGCGGTCC 0.657000 16 67 3.52763e-06 6.29112e-06 0.004990 1 0 MYH15 22989 broad.mit.edu 37 3 108107873 108107873 + Nonsense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:108107873C>A ENST00000273353.3 - 39 5595 c.5539G>T c.(5539-5541)Gag>Tag p.E1847* NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 1847 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.E1847*(1) NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 CTCTGGGCCTCTGCACTGCGA 0.562000 42 110 3.77016e-25 1.04418e-24 0.003214 1 0 RGS22 26166 broad.mit.edu 37 8 101065030 101065030 + Splice_Site SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:101065030C>A ENST00000360863.6 - 10 1883 c.1689_splice c.e10+1 p.Q563_splice RGS22_ENST00000523437.1_Splice_Site_p.Q551_splice|RGS22_ENST00000523287.1_Splice_Site_p.Q382_splice NM_015668.3 NP_056483.3 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 563 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.?(2) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TACACCCTACCTGGATCTCAG 0.393000 74 123 2.48295e-43 7.10596e-43 0.003610 1 0 CLCN1 1180 broad.mit.edu 37 7 143043264 143043264 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:143043264C>A ENST00000343257.2 + 18 2291 c.2204C>A c.(2203-2205)aCt>aAt p.T735N NM_000083.2 NP_000074.2 P35523 CLCN1_HUMAN chloride channel, voltage-sensitive 1 735 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity p.T735N(1) breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CACCCCTCTACTACTGCCCCT 0.592000 12 33 0.00136819 0.00218693 0.001368 1 0 SVEP1 79987 broad.mit.edu 37 9 113173903 113173903 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr9:113173903C>G ENST00000401783.2 - 37 6424 c.6088G>C c.(6088-6090)Gcc>Ccc p.A2030P SVEP1_ENST00000374469.1_Missense_Mutation_p.A2007P|SVEP1_ENST00000297826.5_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2030 Sushi 11. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.A2033P(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCTGGAGAGGCGTGGTCCACA 0.542000 6 16 0 0 0.001168 0 0 KDM5C 8242 broad.mit.edu 37 X 53245284 53245284 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:53245284C>G ENST00000452825.3 - 4 1084 c.552G>C c.(550-552)atG>atC p.M184I KDM5C_ENST00000375383.3_Missense_Mutation_p.M210I|KDM5C_ENST00000375379.3_Missense_Mutation_p.M251I|KDM5C_ENST00000375401.3_Missense_Mutation_p.M251I|KDM5C_ENST00000404049.3_Missense_Mutation_p.M250I NM_001146702.1 NP_001140174.1 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 251 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding p.M251I(1)|p.M184I(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 TGTCTTTGGCCATGAGGCCCA 0.552000 """N, F, S""" clear cell renal carcinoma 3 97 0 0 0.004672 0 0 SEMA3D 223117 broad.mit.edu 37 7 84697506 84697506 + Splice_Site SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:84697506C>G ENST00000284136.6 - 5 633 c.e5+1 SEMA3D_ENST00000444867.1_Splice_Site NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D cell differentiation|nervous system development extracellular region|membrane receptor activity p.?(1) NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 ATTGATCTTACCTGTCATTAC 0.348000 6 49 0 0 0.003080 0 0 TFAP2A 7020 broad.mit.edu 37 6 10415183 10415183 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:10415183C>G ENST00000379613.3 - 1 298 c.42G>C c.(40-42)gaG>gaC p.E14D RP1-290I10.6_ENST00000443546.1_RNA|TFAP2A_ENST00000482890.1_Missense_Mutation_p.E12D|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000319516.4_Intron|TFAP2A_ENST00000379604.2_Missense_Mutation_p.E12D P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 12 ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding p.E12_D13>DY(1) breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) CCTCGCAGTCCTCGTACTTGA 0.572000 OREG0017182 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 85 0 0 0.008291 0 0 ABCA12 26154 broad.mit.edu 37 2 215798856 215798856 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:215798856G>T ENST00000272895.7 - 52 7845 c.7626C>A c.(7624-7626)aaC>aaA p.N2542K ABCA12_ENST00000389661.4_Missense_Mutation_p.N2224K|AC072062.1_ENST00000607412.1_RNA NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 2542 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity p.N2542K(1) NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AAGCAGTCTTGTTGGTTTCCA 0.418000 19 76 3.32936e-07 6.17576e-07 0.006122 1 0 C20orf166 128826 broad.mit.edu 37 20 61150822 61150822 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:61150822C>A ENST00000370524.2 + 2 737 c.16C>A c.(16-18)Cgg>Agg p.R6R C20orf166_ENST00000370523.1_Silent_p.R6R|C20orf166_ENST00000370527.3_5'UTR Q9H1L0 CT166_HUMAN chromosome 20 open reading frame 166 0 endometrium(1)|kidney(1)|lung(2) 4 Breast(26;1.04e-08) BRCA - Breast invasive adenocarcinoma(19;7.17e-06) TACGGGGTCCCGGGAGGCAGC 0.622000 6 19 3.59834e-05 6.04078e-05 0.001168 1 0 TPP1 1200 broad.mit.edu 37 11 6637657 6637657 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:6637657T>C ENST00000533371.1 - 7 1033 c.235A>G c.(235-237)Act>Gct p.T79A TPP1_ENST00000299427.6_Missense_Mutation_p.T322A O14773 TPP1_HUMAN tripeptidyl peptidase I 322 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity p.T322A(1) breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) TAGCTCACAGTATGCACATGT 0.542000 12 29 0 0 0.000978 0 0 SPTA1 6708 broad.mit.edu 37 1 158582642 158582642 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:158582642C>A ENST00000368148.3 - 51 7279 c.7099G>T c.(7099-7101)Ggc>Tgc p.G2367C SPTA1_ENST00000368147.3_Missense_Mutation_p.G2364C NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2367 EF-hand 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.G2367C(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TATGACTTGCCCTCTGCCAGG 0.453000 45 97 9.84934e-19 2.52968e-18 0.002522 1 0 CLPS 1208 broad.mit.edu 37 6 35762936 35762936 + Missense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:35762936C>T ENST00000259938.2 - 3 348 c.326G>A c.(325-327)cGc>cAc p.R109H NM_001832.3 NP_001823.1 P04118 COL_HUMAN colipase, pancreatic 109 R -> C (in dbSNP:rs41270082). lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process extracellular region p.R109H(1) large_intestine(2)|lung(2)|prostate(1) 5 CTGCTTGGAGCGTCCAGCGTC 0.607000 5 87 0 0 0.001984 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88292350 88292350 + Splice_Site SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr9:88292350C>A ENST00000357081.3 - 6 581 c.e6+1 AGTPBP1_ENST00000432218.1_Splice_Site|AGTPBP1_ENST00000376083.3_Splice_Site|AGTPBP1_ENST00000337006.4_Splice_Site|AGTPBP1_ENST00000376081.4_Splice_Site|AGTPBP1_ENST00000376109.3_Splice_Site|AGTPBP1_ENST00000491784.1_Splice_Site|AGTPBP1_ENST00000376080.1_Splice_Site Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.?(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 AAATCCCTTACCTTTTGGTCC 0.318000 23 65 1.77063e-15 4.20613e-15 0.005443 1 0 DPP3 10072 broad.mit.edu 37 11 66258798 66258798 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:66258798C>A ENST00000532677.1 + 7 1200 c.799C>A c.(799-801)Cgg>Agg p.R267R DPP3_ENST00000541961.1_Silent_p.R248R|DPP3_ENST00000453114.1_Silent_p.R248R|DPP3_ENST00000360510.2_Silent_p.R248R|DPP3_ENST00000531863.1_Silent_p.R268R|DPP3_ENST00000530165.1_Silent_p.R218R NM_001256670.1|NM_005700.4|NM_130443.3 NP_001243599.1|NP_005691.2|NP_569710.2 Q9NY33 DPP3_HUMAN dipeptidyl-peptidase 3 248 proteolysis cytoplasm aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity p.R248R(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1) 23 CCAGGTGACCCGGGGGGACTA 0.607000 OREG0021109 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 89 1.16021e-09 2.33206e-09 0.007291 1 0 PCDH1 5097 broad.mit.edu 37 5 141248409 141248409 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:141248409C>A ENST00000287008.3 - 2 775 c.628G>T c.(628-630)Ggg>Tgg p.G210W PCDH1_ENST00000536585.1_Missense_Mutation_p.G188W|PCDH1_ENST00000503492.1_Missense_Mutation_p.G210W|PCDH1_ENST00000394536.3_Missense_Mutation_p.G210W|PCDH1_ENST00000456271.1_Intron NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 210 Cadherin 2. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding p.G210W(1) breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GCCTCAGGCCCAGCCTGCAGC 0.607000 13 93 0.00010058 0.000166985 0.001368 1 0 ZDHHC15 158866 broad.mit.edu 37 X 74742811 74742811 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:74742811G>A ENST00000541184.1 - 1 526 c.49C>T c.(49-51)Cgc>Tgc p.R17C ZDHHC15_ENST00000482827.1_5'UTR|ZDHHC15_ENST00000373367.3_Missense_Mutation_p.R17C|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.R17C NM_001146256.1 NP_001139728.1 Q96MV8 ZDH15_HUMAN zinc finger, DHHC-type containing 15 17 integral to membrane zinc ion binding p.R17C(1) central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2) 26 AGTACCCGGCGGCAGCACCGC 0.632000 7 23 0 0 0.003080 0 0 CXXC11 285093 broad.mit.edu 37 2 242815319 242815319 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:242815319G>T ENST00000343216.3 + 2 1640 c.1612G>T c.(1612-1614)Gcc>Tcc p.A538S NM_173821.2 NP_776182.2 Q14D33 CB085_HUMAN CXXC finger protein 11 538 integral to membrane p.A538S(2) TAGGCCGCACGCCGAGCCCTA 0.652000 25 121 5.45727e-16 1.32786e-15 0.008361 1 0 LCT 3938 broad.mit.edu 37 2 136570154 136570154 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:136570154C>A ENST00000264162.2 - 7 2090 c.2080G>T c.(2080-2082)Gcc>Tcc p.A694S NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 694 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity p.A694S(1) breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TTTTGTGGGGCGTTGCTGATG 0.547000 16 66 8.28177e-16 1.99893e-15 0.007413 1 0 TENM2 57451 broad.mit.edu 37 5 167182132 167182132 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:167182132G>T ENST00000519204.1 + 1 192 c.74G>T c.(73-75)aGa>aTa p.R25I TENM2_ENST00000520394.1_Missense_Mutation_p.R25I|TENM2_ENST00000520393.1_Intron|TENM2_ENST00000545108.1_Intron|TENM2_ENST00000518659.1_Intron teneurin transmembrane protein 2 p.R25I(1) CTCTTATGGAGACCCGGCAGT 0.527000 38 222 2.75727e-19 7.14276e-19 0.004878 1 0 POTEH 23784 broad.mit.edu 37 22 16279214 16279214 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr22:16279214C>A ENST00000343518.6 - 4 1060 c.1009G>T c.(1009-1011)Gca>Tca p.A337S NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 337 p.A337S(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CTATCCAGTGCATTTAAATTT 0.313000 29 550 9.39395e-14 2.10663e-13 0.006320 1 0 INCENP 3619 broad.mit.edu 37 11 61913164 61913164 + Nonsense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:61913164G>T ENST00000394818.3 + 14 2102 c.1900G>T c.(1900-1902)Gag>Tag p.E634* INCENP_ENST00000278849.4_Nonsense_Mutation_p.E630* NM_001040694.1 NP_001035784.1 Q9NQS7 INCE_HUMAN inner centromere protein antigens 135/155kDa 634 chromosome segregation|cytokinesis|mitotic prometaphase centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle protein binding p.E634*(1)|p.E630*(1) breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 GAAGATGGAGGAGGTGGAAGC 0.652000 5 10 3.59834e-05 6.04078e-05 0.001168 1 0 FUNDC2P2 388965 broad.mit.edu 37 2 84517868 84517868 + RNA SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:84517868C>T ENST00000331369.5 + 0 62 CGGGTGGTGGCCACGACAGCG 0.657000 4 2 0 0 0.000248 0 0 ZNF608 57507 broad.mit.edu 37 5 123980214 123980214 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:123980214G>A ENST00000306315.5 - 5 4281 c.3846C>T c.(3844-3846)ccC>ccT p.P1282P ZNF608_ENST00000504926.1_Silent_p.P855P NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1282 intracellular zinc ion binding p.P1282P(1) breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) CAGGAAGGCTGGGCACACCAC 0.418000 36 203 0 0 0.006999 0 0 MUC17 140453 broad.mit.edu 37 7 100680280 100680280 + Silent SNP G G T rs141016213 byFrequency TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:100680280G>T ENST00000306151.4 + 3 5647 c.5583G>T c.(5581-5583)acG>acT p.T1861T NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1861 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.T1861T(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CAACCTCAACGCCTAGTGAAG 0.483000 69 282 5.22007e-41 1.48685e-40 0.003610 1 0 LUZP2 338645 broad.mit.edu 37 11 24759796 24759796 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:24759796T>C ENST00000533227.1 + 4 310 c.23T>C c.(22-24)cTg>cCg p.L8P LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000336930.6_Missense_Mutation_p.L94P NM_001009909.3|NM_001252008.1 NP_001009909.2|NP_001238937.1 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 94 extracellular region p.L94P(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 32 CAGGAGGCCCTGCAAAATCAG 0.363000 18 38 0 0 0.008871 0 0 GYPC 2995 broad.mit.edu 37 2 127451442 127451442 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:127451442C>A ENST00000259254.4 + 3 440 c.109C>A c.(109-111)Cct>Act p.P37T GYPC_ENST00000464053.1_3'UTR|GYPC_ENST00000409836.3_Missense_Mutation_p.P18T|GYPC_ENST00000356887.7_Missense_Mutation_p.P16T NM_002101.4 NP_002092.1 P04921 GLPC_HUMAN glycophorin C (Gerbich blood group) 37 cortical cytoskeleton|integral to plasma membrane protein binding p.P37T(1) central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|prostate(2)|urinary_tract(1) 13 Colorectal(110;0.0533) BRCA - Breast invasive adenocarcinoma(221;0.075) GTTCACAGAGCCTGATCCAGG 0.542000 12 99 7.03913e-09 1.39162e-08 0.001368 1 0 ACSL6 23305 broad.mit.edu 37 5 131302125 131302125 + Missense_Mutation SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:131302125A>T ENST00000379264.2 - 17 1805 c.1697T>A c.(1696-1698)aTc>aAc p.I566N ACSL6_ENST00000296869.4_Missense_Mutation_p.I566N|ACSL6_ENST00000379244.1_Missense_Mutation_p.I541N|ACSL6_ENST00000544770.1_Missense_Mutation_p.I450N|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000379246.1_Missense_Mutation_p.I552N|ACSL6_ENST00000543479.1_Missense_Mutation_p.I541N|ACSL6_ENST00000379249.3_Missense_Mutation_p.I541N|ACSL6_ENST00000379272.2_Missense_Mutation_p.I556N|ACSL6_ENST00000379255.1_Missense_Mutation_p.I466N|ACSL6_ENST00000431707.1_Missense_Mutation_p.I521N|ACSL6_ENST00000379240.1_Missense_Mutation_p.I541N|ACSL6_ENST00000357096.1_Missense_Mutation_p.I466N NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 541 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity p.I566N(2) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CCATTTTCCGATGTCTCCAGT 0.537000 20 64 0 0 0.001882 0 0 RBPMS 11030 broad.mit.edu 37 8 30407059 30407059 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:30407059G>T ENST00000287771.5 + 7 1137 c.571G>T c.(571-573)Gct>Tct p.A191S RBPMS_ENST00000397323.4_Intron|RBPMS_ENST00000320203.4_Intron|RBPMS_ENST00000538486.1_Intron NM_001008711.1 NP_001008711.1 Q93062 RBPMS_HUMAN RNA binding protein with multiple splicing 0 positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|nucleus nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity p.A191S(1) autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172) CCCCTTGAGCGCTCCGTCTCC 0.532000 20 68 8.34094e-07 1.52832e-06 0.008871 1 0 KM-PA-2 0 broad.mit.edu 37 8 145318037 145318037 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:145318037G>A ENST00000377412.4 - 11 1276 c.1277C>T c.(1276-1278)aCg>aTg p.T426M p.T426M(1) GGTCACCTGCGTCACTGGCTG 0.701000 5 15 0 0 0.001168 0 0 PDILT 204474 broad.mit.edu 37 16 20410442 20410442 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:20410442G>T ENST00000302451.4 - 2 429 c.181C>A c.(181-183)Cgc>Agc p.R61S NM_174924.1 NP_777584.1 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis expressed 61 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity p.R61S(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 ATGAGGAAGCGGGTCTGGTTC 0.562000 17 41 4.7546e-09 9.46198e-09 0.004007 1 0 GLI3 2737 broad.mit.edu 37 7 42088216 42088216 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:42088216C>A ENST00000395925.3 - 5 637 c.553G>T c.(553-555)Gct>Tct p.A185S GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 185 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A185S(1) NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 GACTCGGAAGCAGCAGTGGGG 0.542000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly 32 78 1.08312e-15 2.59345e-15 0.001786 1 0 DNAJC11 55735 broad.mit.edu 37 1 6712898 6712898 + Silent SNP T T G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:6712898T>G ENST00000377577.5 - 6 744 c.621A>C c.(619-621)ggA>ggC p.G207G DNAJC11_ENST00000349363.6_Silent_p.G169G|DNAJC11_ENST00000377573.5_Silent_p.G117G|DNAJC11_ENST00000294401.7_Silent_p.G207G|DNAJC11_ENST00000542246.1_Silent_p.G169G NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 207 protein folding heat shock protein binding|unfolded protein binding p.G207G(2) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) CCTCTCCCCATCCCTTTGCCG 0.478000 3 111 0 0 0.000248 0 0 TTN 7273 broad.mit.edu 37 2 179648941 179648941 + Silent SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:179648941G>T ENST00000589042.1 - 16 2855 c.2631C>A c.(2629-2631)ccC>ccA p.P877P TTN_ENST00000591111.1_Silent_p.P877P|TTN_ENST00000460472.2_Silent_p.P831P|TTN_ENST00000359218.5_Silent_p.P831P|TTN_ENST00000360870.5_Silent_p.P877P|TTN_ENST00000342992.6_Silent_p.P877P|TTN_ENST00000342175.6_Silent_p.P831P NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 877 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.P831Q(3)|p.P877Q(3) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTGTGGCAAGGGTGTGGGCT 0.527000 9 88 0.00448238 0.00703371 0.004482 1 0 PKD2 5311 broad.mit.edu 37 4 88996742 88996742 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:88996742C>A ENST00000237596.2 + 15 2869 c.2803C>A c.(2803-2805)Cta>Ata p.L935I PKD2_ENST00000502363.1_Missense_Mutation_p.L353I|PKD2_ENST00000508588.1_Missense_Mutation_p.L353I|PKD2_ENST00000511337.1_3'UTR NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 935 C-terminal coiled coil domain. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity p.L935I(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) GCCAGTGGGACTAAATGGTCA 0.532000 6 149 0.00307968 0.00485797 0.003080 1 0 ARMC1 55156 broad.mit.edu 37 8 66539450 66539450 + Splice_Site SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:66539450C>A ENST00000276569.3 - 2 428 c.e2+1 ARMC1_ENST00000458464.2_Splice_Site|ARMC1_ENST00000523384.1_Splice_Site NM_018120.4 NP_060590.1 Q9NVT9 ARMC1_HUMAN armadillo repeat containing 1 metal ion transport metal ion binding p.?(1) cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1) 14 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) AGGCAACTTACAAGCAAAGCG 0.418000 24 89 5.35356e-11 1.12894e-10 0.002780 1 0 LINC00957 255031 broad.mit.edu 37 7 44080453 44080453 + RNA SNP G G A rs116887274 by1000genomes TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:44080453G>A ENST00000441052.1 + 0 1138 CACAGCAGCCGGGACACGGAC 0.677000 3 10 0 0 0.004672 0 0 ZNF99 7652 broad.mit.edu 37 19 22939511 22939511 + Missense_Mutation SNP G G T rs74170737 TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:22939511G>T ENST00000397104.3 - 7 2659 c.2660C>A c.(2659-2661)cCg>cAg p.P887Q zinc finger protein 99 p.P887Q(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) ACATTTGTACGGTTTCTCCCC 0.353000 12 59 2.27111e-07 4.26543e-07 0.001368 1 0 AOAH 313 broad.mit.edu 37 7 36655990 36655990 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:36655990G>A ENST00000431169.1 - 11 1142 c.842C>T c.(841-843)tCt>tTt p.S281F AOAH_ENST00000535891.1_Missense_Mutation_p.S249F|AOAH_ENST00000258749.5_Missense_Mutation_p.S281F NM_001177506.1 NP_001170977.1 P28039 AOAH_HUMAN acyloxyacyl hydrolase (neutrophil) 281 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity p.S281F(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 ACTTACCAAAGACATCTGCGA 0.483000 5 18 0 0 0.000602 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203112 140203112 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:140203112G>A ENST00000529859.1 + 1 1752 c.1752G>A c.(1750-1752)gtG>gtA p.V584V PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.V584V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.V584V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018908.2 NP_061731.1 p.V584V(2) NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAGGTCAGTGGGTGCGGGCC 0.682000 9 61 0 0 0.004482 0 0 PLCH1 23007 broad.mit.edu 37 3 155199127 155199127 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:155199127G>T ENST00000460012.1 - 23 4955 c.4598C>A c.(4597-4599)cCc>cAc p.P1533H PLCH1_ENST00000340059.7_Missense_Mutation_p.P1571H|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1533H|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1533H|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1571 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity p.P1571H(1)|p.P1533H(1) NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CAGTGCCCGGGGGAGCTGATT 0.512000 26 75 6.32553e-13 1.39766e-12 0.004656 1 0 DRAXIN 374946 broad.mit.edu 37 1 11769501 11769501 + Silent SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:11769501C>G ENST00000294485.5 + 3 756 c.621C>G c.(619-621)ccC>ccG p.P207P NM_198545.3 NP_940947.3 dorsal inhibitory axon guidance protein p.P207P(2) TGATCCTGCCCGTCACCTCCC 0.587000 7 11 0 0 0.003080 0 0 ATP2B2 491 broad.mit.edu 37 3 10387773 10387773 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:10387773G>A ENST00000397077.1 - 16 2893 c.2318C>T c.(2317-2319)aCg>aTg p.T773M ATP2B2_ENST00000383800.4_Missense_Mutation_p.T773M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.T818M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T818M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T804M Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 818 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding p.T773M(1)|p.T818M(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 CCCGTCCCCCGTCACGGCCAC 0.687000 4 25 0 0 0.000602 0 0 GRK5 2869 broad.mit.edu 37 10 121199253 121199253 + Missense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:121199253C>T ENST00000392870.2 + 10 1269 c.940C>T c.(940-942)Cct>Tct p.P314S GRK5_ENST00000369108.3_Missense_Mutation_p.P209S NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 314 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity p.P314S(1) endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) AGATCTGAAACCTGAAAACAT 0.493000 9 54 0 0 0.004482 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453902 84453902 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr13:84453902G>T ENST00000377084.2 - 1 2626 c.1741C>A c.(1741-1743)Ctg>Atg p.L581M NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 581 integral to membrane p.L581M(1) NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CTAGCGTACAGCTGAGGGCAG 0.542000 9 17 3.09899e-07 5.76622e-07 0.004482 1 0 ZNF621 285268 broad.mit.edu 37 3 40573561 40573561 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:40573561G>T ENST00000339296.5 + 5 752 c.300G>T c.(298-300)aaG>aaT p.K100N ZNF621_ENST00000403205.2_Missense_Mutation_p.K100N|ZNF621_ENST00000431278.1_5'UTR|ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Missense_Mutation_p.K100N NM_198484.3 NP_940886.1 Q6ZSS3 ZN621_HUMAN zinc finger protein 621 100 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.K100N(1) endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648) TAGTTATAAAGCAGGAAGCCT 0.433000 23 72 1.10513e-12 2.42403e-12 0.002299 1 0 MMP25 64386 broad.mit.edu 37 16 3107056 3107056 + Missense_Mutation SNP T T G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:3107056T>G ENST00000336577.4 + 5 921 c.684T>G c.(682-684)ttT>ttG p.F228L RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA NM_022468.4 NP_071913.1 Q9NPA2 MMP25_HUMAN matrix metallopeptidase 25 228 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.F228L(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1) 14 CCGACCTGTTTGCCGTGGCTG 0.672000 13 69 0 0 0.001855 0 0 LONRF3 79836 broad.mit.edu 37 X 118123383 118123383 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:118123383C>A ENST00000365713.2 + 3 1112 c.949C>A c.(949-951)Ctc>Atc p.L317I LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000304778.7_Missense_Mutation_p.L317I|LONRF3_ENST00000371628.3_Missense_Mutation_p.L358I|LONRF3_ENST00000422289.2_Missense_Mutation_p.L102I Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 358 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding p.L358I(1)|p.L317I(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 CAATCTGGAGCTCCCACATTG 0.493000 9 63 3.09899e-07 5.76622e-07 0.004482 1 0 DCHS1 8642 broad.mit.edu 37 11 6662431 6662431 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:6662431G>T ENST00000299441.3 - 2 825 c.414C>A c.(412-414)gaC>gaA p.D138E NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 138 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D138E(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGAGCATGGTCGTTGATGT 0.602000 12 21 6.40141e-05 0.000107166 0.000978 1 0 ITGAV 3685 broad.mit.edu 37 2 187529244 187529244 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:187529244G>T ENST00000261023.3 + 20 2223 c.1949G>T c.(1948-1950)gGg>gTg p.G650V ITGAV_ENST00000374907.3_Missense_Mutation_p.G614V|ITGAV_ENST00000433736.2_Missense_Mutation_p.G604V|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 650 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding p.G650V(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ATCTATATTGGGGATGACAAC 0.403000 33 215 1.04352e-10 2.1852e-10 0.003755 1 0 BLZF1 8548 broad.mit.edu 37 1 169346053 169346053 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:169346053C>T ENST00000367808.3 + 3 727 c.304C>T c.(304-306)Ctg>Ttg p.L102L BLZF1_ENST00000329281.2_Silent_p.L102L|BLZF1_ENST00000367807.3_Silent_p.L102L Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 102 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding p.L102L(1) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) GGTTAAGTCTCTGGGACATCA 0.373000 31 90 0 0 0.002096 0 0 RGAG1 57529 broad.mit.edu 37 X 109696443 109696443 + Silent SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:109696443A>T ENST00000465301.2 + 3 2844 c.2598A>T c.(2596-2598)ccA>ccT p.P866P RGAG1_ENST00000540313.1_Silent_p.P866P NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 866 p.P866P(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 TGAGAGCCCCAGACTCTAGAG 0.557000 69 175 0 0 0.003610 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85531673 85531673 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:85531673C>A ENST00000393217.2 + 19 4316 c.4255C>A c.(4255-4257)Cta>Ata p.L1419I NM_001079910.1 NP_001073379.1 Q96JM4 LRIQ1_HUMAN leucine-rich repeats and IQ motif containing 1 1419 IQ 3. p.L1419I(1) 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) GACAACAGCTCTAGAGGCTAT 0.308000 45 113 4.01344e-20 1.06729e-19 0.003610 1 0 HRNR 388697 broad.mit.edu 37 1 152192644 152192644 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:152192644G>T ENST00000368801.2 - 3 1536 c.1461C>A c.(1459-1461)caC>caA p.H487Q FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 487 keratinization calcium ion binding|protein binding p.H487Q(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGCCGGAGGAGTGACCTGAGC 0.532000 110 313 2.91707e-64 8.51049e-64 0.003610 1 0 ATM 472 broad.mit.edu 37 11 108218090 108218090 + Missense_Mutation SNP T T G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:108218090T>G ENST00000278616.4 + 59 9054 c.8669T>G c.(8668-8670)cTa>cGa p.L2890R ATM_ENST00000452508.2_Missense_Mutation_p.L2890R|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2890 PI3K/PI4K. L -> V (in T-prolymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.L2890R(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CATATAGATCTAGGTAAGTAA 0.308000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 30 39 0 0 0.001786 0 0 C5orf42 65250 broad.mit.edu 37 5 37183193 37183193 + Missense_Mutation SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:37183193A>G ENST00000274258.7 - 26 5320 c.1733T>C c.(1732-1734)cTa>cCa p.L578P C5orf42_ENST00000508244.1_Missense_Mutation_p.L1697P|C5orf42_ENST00000425232.2_Missense_Mutation_p.L1697P E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 1697 p.L1697P(1)|p.L578P(1) breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) TCTCTGGATTAGACATTTCTC 0.328000 24 54 0 0 0.002780 0 0 SAMD3 154075 broad.mit.edu 37 6 130530640 130530640 + Splice_Site SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:130530640C>A ENST00000532763.1 - 4 506 c.377_splice c.e4+1 p.R126_splice SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Splice_Site_p.R128_splice|SAMD3_ENST00000439090.2_Splice_Site_p.R128_splice|SAMD3_ENST00000368134.2_Splice_Site_p.R128_splice|SAMD3_ENST00000457563.2_Splice_Site_p.R152_splice|SAMD3_ENST00000437477.2_Splice_Site_p.R128_splice Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 128 p.?(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GTACCCCCACCTCTGTTTCAA 0.378000 11 32 1.58986e-06 2.86939e-06 0.008291 1 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647451 33647451 + Missense_Mutation SNP T T G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:33647451T>G ENST00000558425.1 - 2 148 c.149A>C c.(148-150)aAc>aCc p.N50T CATGTAGTGGTTACTGAAGGT 0.562000 47 234 0 0 0.003610 0 0 FAM135B 51059 broad.mit.edu 37 8 139255226 139255226 + Silent SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:139255226A>G ENST00000395297.1 - 7 798 c.628T>C c.(628-630)Ttg>Ctg p.L210L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 210 p.L210L(2) NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CCAAAGACCAAGTTTTCCAGA 0.463000 HNSCC(54;0.14) 6 47 0 0 0.001984 0 0 OR2T12 127064 broad.mit.edu 37 1 248458178 248458178 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:248458178C>A ENST00000317996.1 - 1 702 c.703G>T c.(703-705)Gcc>Tcc p.A235S NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 235 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A235S(1) endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GTGGCAAAGGCCTTCTTGCGG 0.517000 34 99 8.4185e-14 1.89495e-13 0.002445 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140730539 140730539 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:140730539G>A ENST00000523390.1 + 1 712 c.712G>A c.(712-714)Gtg>Atg p.V238M PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 p.V238M(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAATGCTCCCGTGTTTAGCCA 0.557000 17 55 0 0 0.004007 0 0 RPH3A 22895 broad.mit.edu 37 12 113313513 113313513 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:113313513G>A ENST00000389385.4 + 12 1410 c.913G>A c.(913-915)Ggg>Agg p.G305R RPH3A_ENST00000447659.2_Missense_Mutation_p.G256R|RPH3A_ENST00000543106.2_Missense_Mutation_p.G305R|RPH3A_ENST00000415485.3_Missense_Mutation_p.G305R|RPH3A_ENST00000548866.1_Missense_Mutation_p.G256R|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.G305R|RPH3A_ENST00000551052.1_Missense_Mutation_p.G301R NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 305 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding p.G301R(1) 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) ACCGGGTCCTGGGCCAGCAGG 0.597000 24 59 0 0 0.005443 0 0 DNAAF3 352909 broad.mit.edu 37 19 55672123 55672123 + Silent SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:55672123T>C ENST00000527223.2 - 9 1138 c.1137A>G c.(1135-1137)caA>caG p.Q379Q DNAAF3_ENST00000524407.2_Silent_p.Q311Q|DNAAF3_ENST00000391720.4_Silent_p.Q358Q|DNAAF3_ENST00000455045.1_Silent_p.Q257Q|CTD-2587H24.5_ENST00000591665.1_RNA NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 311 p.Q358Q(1) TCACGTTGTGTTGAGTGATCT 0.711000 3 33 0 0 0.004672 0 0 TTI1 9675 broad.mit.edu 37 20 36634758 36634758 + Nonsense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:36634758C>A ENST00000373448.2 - 4 2582 c.2344G>T c.(2344-2346)Gag>Tag p.E782* TTI1_ENST00000373447.3_Nonsense_Mutation_p.E782*|TTI1_ENST00000449821.1_Nonsense_Mutation_p.E782* NM_014657.1 NP_055472.1 O43156 TTI1_HUMAN TELO2 interacting protein 1 782 binding p.E782*(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 47 AAACTTTGCTCTTGGAGGTGC 0.443000 19 88 1.15919e-05 2.01934e-05 0.008871 1 0 APOB 338 broad.mit.edu 37 2 21226018 21226018 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:21226018G>T ENST00000233242.1 - 29 12403 c.12276C>A c.(12274-12276)caC>caA p.H4092Q NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 4092 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.H4092Q(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGAGCCCTGTGTGTTCCCAGT 0.473000 36 219 3.11337e-16 7.6373e-16 0.002836 1 0 TSACC 128229 broad.mit.edu 37 1 156314480 156314480 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:156314480G>T ENST00000368255.3 + 3 504 c.144G>T c.(142-144)caG>caT p.Q48H TSACC_ENST00000368253.1_Missense_Mutation_p.Q48H|TSACC_ENST00000368254.1_Missense_Mutation_p.Q48H|TSACC_ENST00000481479.1_3'UTR|TSACC_ENST00000368251.1_Missense_Mutation_p.Q48H|TSACC_ENST00000368252.1_Missense_Mutation_p.Q48H NM_144627.3 NP_653228.1 TSSK6 activating co-chaperone p.Q48H(1) TGAACATCCAGACAACAAAGC 0.507000 36 103 2.26627e-22 6.10776e-22 0.007835 1 0 GHSR 2693 broad.mit.edu 37 3 172165766 172165766 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:172165766G>A ENST00000241256.2 - 1 480 c.438C>T c.(436-438)tgC>tgT p.C146C GHSR_ENST00000427970.1_Silent_p.C146C NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 146 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity p.C146C(2) biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GGAGTGGGAAGCAGATGGCGA 0.622000 3 26 0 0 0.004672 0 0 OR10X1 128367 broad.mit.edu 37 1 158548798 158548798 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:158548798G>T ENST00000368150.1 - 1 891 c.892C>A c.(892-894)Ctc>Atc p.L298I NM_001004477.1 NP_001004477.1 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene) 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L298I(2) breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1) 37 all_hematologic(112;0.0378) ATGGGGCTGAGGAAGGGGGTA 0.398000 42 112 2.40579e-17 6.0245e-17 0.006230 1 0 OR4N2 390429 broad.mit.edu 37 14 20295950 20295950 + Missense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr14:20295950C>T ENST00000315947.1 + 1 343 c.343C>T c.(343-345)Ctt>Ttt p.L115F OR4N2_ENST00000568211.1_Missense_Mutation_p.L115F NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 115 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L115F(1) breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGGATTACTCCTTGTTGTGAT 0.507000 84 318 0 0 0.003610 0 0 C1orf198 84886 broad.mit.edu 37 1 231004224 231004224 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:231004224C>A ENST00000366663.5 - 1 175 c.35G>T c.(34-36)cGc>cTc p.R12L C1orf198_ENST00000470540.1_Intron|C1orf198_ENST00000427697.2_Intron NM_032800.2 NP_116189.1 Q9H425 CA198_HUMAN chromosome 1 open reading frame 198 12 p.R12L(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 17 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) GACCGCCGAGCGCGAAGCCGC 0.741000 3 12 0.004672 0.00729317 0.004672 1 0 PTPRN2 5799 broad.mit.edu 37 7 157926490 157926490 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:157926490C>A ENST00000389413.3 - 9 1538 c.1435G>T c.(1435-1437)Ggg>Tgg p.G479W PTPRN2_ENST00000389416.4_Missense_Mutation_p.G462W|PTPRN2_ENST00000389418.4_Missense_Mutation_p.G479W|PTPRN2_ENST00000404321.2_Missense_Mutation_p.G502W|PTPRN2_ENST00000409483.1_Missense_Mutation_p.G441W NM_130843.2 NP_570858.2 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N polypeptide 2 479 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.G479L(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 86 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TTCGAGGGCCCAGGCATCTGG 0.652000 14 55 1.05317e-09 2.12401e-09 0.002450 1 0 KCTD3 51133 broad.mit.edu 37 1 215747143 215747143 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:215747143G>T ENST00000259154.4 + 2 392 c.98G>T c.(97-99)aGa>aTa p.R33I NM_016121.3 NP_057205.2 Q9Y597 KCTD3_HUMAN potassium channel tetramerization domain containing 3 33 BTB. voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity p.R33I(1) breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1) 33 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) AGTACCTCAAGACAAACTCTT 0.254000 46 146 4.1673e-28 1.15951e-27 0.003610 1 0 NPY5R 4889 broad.mit.edu 37 4 164271731 164271731 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:164271731C>A ENST00000515560.1 + 4 1828 c.306C>A c.(304-306)gtC>gtA p.V102V NPY5R_ENST00000506953.1_Silent_p.V102V|NPY5R_ENST00000338566.3_Silent_p.V102V Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 102 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane p.V102V(1) NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) TGACGTCTGTCTTGCTGGATC 0.393000 83 169 2.47556e-37 7.01799e-37 0.003610 1 0 PIAS2 9063 broad.mit.edu 37 18 44424712 44424712 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr18:44424712G>A ENST00000585916.1 - 7 951 c.952C>T c.(952-954)Cat>Tat p.H318Y PIAS2_ENST00000324794.7_Missense_Mutation_p.H318Y|PIAS2_ENST00000545673.1_Missense_Mutation_p.H28Y NM_004671.3 NP_004662.2 O75928 PIAS2_HUMAN protein inhibitor of activated STAT, 2 318 androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|PML body androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding p.H318Y(2) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 22 GCTCTGGAATGATCAGGGTTT 0.294000 6 65 0 0 0.001168 0 0 AGBL1 123624 broad.mit.edu 37 15 86813215 86813215 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr15:86813215T>C ENST00000441037.2 + 13 1861 c.1766T>C c.(1765-1767)tTc>tCc p.F589S AGBL1_ENST00000389298.3_Missense_Mutation_p.F320S|AGBL1_ENST00000421325.2_Missense_Mutation_p.F589S NM_152336.2 NP_689549.2 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 589 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding p.F589S(1) NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 62 TGGTTCTATTTCAAAGTGAGC 0.493000 15 14 0 0 0.002450 0 0 IFNB1 3456 broad.mit.edu 37 9 21077501 21077501 + Missense_Mutation SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr9:21077501A>G ENST00000380232.2 - 1 442 c.368T>C c.(367-369)cTg>cCg p.L123P NM_002176.2 NP_002167.1 P01574 IFNB_HUMAN interferon, beta 1, fibroblast 123 activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity p.L123P(1) breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1) 12 GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11) Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068) TTTTTCTTCCAGGACTGTCTT 0.423000 54 127 0 0 0.003610 0 0 EPHA5 2044 broad.mit.edu 37 4 66356169 66356169 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:66356169G>T ENST00000273854.3 - 5 1928 c.1328C>A c.(1327-1329)gCa>gAa p.A443E EPHA5_ENST00000354839.4_Missense_Mutation_p.A443E|EPHA5_ENST00000511294.1_Missense_Mutation_p.A443E|EPHA5_ENST00000432638.2_Intron NM_004439.5 NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 443 Fibronectin type-III 1. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity p.A443E(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TCCATTCACTGCCTCAATCTC 0.502000 TSP Lung(17;0.13) 16 64 0.00498961 0.00776879 0.004990 1 0 PRDM9 56979 broad.mit.edu 37 5 23522959 23522959 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:23522959G>T ENST00000296682.3 + 8 1029 c.847G>T c.(847-849)Gac>Tac p.D283Y NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 283 SET. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.D283Y(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 AATTACAGAAGACGAAGAGGC 0.557000 HNSCC(3;0.000094) 21 76 1.28384e-07 2.44948e-07 0.001882 1 0 KLHL1 57626 broad.mit.edu 37 13 70293636 70293636 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr13:70293636C>G ENST00000377844.4 - 9 2639 c.1880G>C c.(1879-1881)tGg>tCg p.W627S KLHL1_ENST00000545028.1_Missense_Mutation_p.W434S NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 627 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding p.W627S(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ACACATGTTCCACTTATTTGT 0.433000 9 72 0 0 0.006214 0 0 PCYT1A 5130 broad.mit.edu 37 3 195997349 195997349 + Silent SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:195997349C>G ENST00000292823.2 - 3 226 c.54G>C c.(52-54)gcG>gcC p.A18A PCYT1A_ENST00000419333.1_Silent_p.A18A|PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Silent_p.A18A NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 18 cytosol|soluble fraction choline-phosphate cytidylyltransferase activity p.A18A(2) cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) TGGGTCCGGGCGCCTCTTTTC 0.483000 94 180 0 0 0.003610 0 0 DYTN 391475 broad.mit.edu 37 2 207516601 207516601 + Nonsense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:207516601G>A ENST00000452335.2 - 12 1794 c.1678C>T c.(1678-1680)Cga>Tga p.R560* NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 560 plasma membrane zinc ion binding p.R560*(2) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) CTGCACACTCGCTGAGCTCCA 0.473000 11 63 0 0 0.001368 0 0 GRK5 2869 broad.mit.edu 37 10 121184541 121184541 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:121184541C>T ENST00000392870.2 + 6 806 c.477C>T c.(475-477)caC>caT p.H159H GRK5_ENST00000369108.3_Silent_p.H54H NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 159 N-terminal.|RGS. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity p.H159H(1) endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) AACCATTCCACGAATATCTGG 0.502000 8 79 0 0 0.008291 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140755906 140755906 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:140755906C>A ENST00000517434.1 + 1 2256 c.2256C>A c.(2254-2256)acC>acA p.T752T PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 p.T752T(1) breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCTGCAGACCTATTCCCACG 0.587000 11 69 0.000673444 0.00109094 0.008291 1 0 EHD3 30845 broad.mit.edu 37 2 31489306 31489306 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:31489306C>T ENST00000322054.5 + 6 1629 c.1344C>T c.(1342-1344)taC>taT p.Y448Y EHD3_ENST00000541626.1_3'UTR NM_014600.2 NP_055415.1 Q9NZN3 EHD3_HUMAN EH-domain containing 3 448 EH. blood coagulation|endocytic recycling|protein homooligomerization nucleus|plasma membrane|recycling endosome membrane ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding p.Y448Y(1) NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3) 33 Acute lymphoblastic leukemia(172;0.155) AGCCCATGTACGACGAGATCT 0.602000 4 32 0 0 0.000248 0 0 MALAT1 378938 broad.mit.edu 37 11 65268388 65268388 + RNA SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:65268388T>C ENST00000534336.1 + 0 3156 NR_002819.2 TGTAGGTTTCTCTTTTTCAGG 0.398000 19 53 0 0 0.007413 0 0 RTL1 388015 broad.mit.edu 37 14 101348403 101348403 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr14:101348403C>A ENST00000534062.1 - 1 2781 c.2723G>T c.(2722-2724)cGc>cTc p.R908L NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 908 p.R908L(1) breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 GGAGATGTTGCGGGAGTAGAA 0.572000 4 7 0.00024832 0.000405544 0.000248 1 0 TIAF1 9220 broad.mit.edu 37 17 27401083 27401083 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:27401083C>T ENST00000359450.6 - 1 4792 c.135G>A c.(133-135)gaG>gaA p.E45E MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_3'UTR|TIAF1_ENST00000408971.2_Silent_p.E45E|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000527372.1_3'UTR NM_004740.3 NP_004731.2 O95411 TIAF1_HUMAN TGFB1-induced anti-apoptotic factor 1 45 anti-apoptosis|apoptosis|I-kappaB kinase/NF-kappaB cascade nucleus p.E45E(1) kidney(1)|lung(1)|urinary_tract(1) 3 Lung NSC(42;0.015) Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) CGTAGGCTTGCTCAACCCAGC 0.587000 17 60 0 0 0.004007 0 0 COL4A6 1288 broad.mit.edu 37 X 107457416 107457416 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:107457416C>A ENST00000394872.2 - 7 595 c.364G>T c.(364-366)Gat>Tat p.D122Y COL4A6_ENST00000334504.7_Missense_Mutation_p.D123Y|COL4A6_ENST00000545689.1_Missense_Mutation_p.D123Y|COL4A6_ENST00000538570.1_Missense_Mutation_p.D123Y|COL4A6_ENST00000372216.4_Missense_Mutation_p.D124Y Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 124 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding p.D123Y(1) breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TTACAGCCATCCAGACCAGGT 0.512000 Alport syndrome with Diffuse Leiomyomatosis 21 67 1.96292e-10 4.04012e-10 0.001523 1 0 APCS 325 broad.mit.edu 37 1 159558144 159558144 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:159558144G>T ENST00000255040.2 + 2 415 c.318G>T c.(316-318)aaG>aaT p.K106N NM_001639.3 NP_001630.1 P02743 SAMP_HUMAN amyloid P component, serum 106 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding p.K106N(1) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_hematologic(112;0.0429) TTATCGAAAAGTTCCCGGCTC 0.438000 17 72 5.3912e-06 9.58614e-06 0.006122 1 0 KIAA0753 9851 broad.mit.edu 37 17 6526310 6526310 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:6526310C>A ENST00000361413.3 - 6 1354 c.996G>T c.(994-996)cgG>cgT p.R332R KIAA0753_ENST00000572370.1_Silent_p.R33R|KIAA0753_ENST00000542606.1_Silent_p.R33R NM_014804.2 NP_055619.2 Q2KHM9 K0753_HUMAN KIAA0753 332 centrosome p.R332R(1) endometrium(4)|large_intestine(11)|lung(5)|prostate(4) 24 COAD - Colon adenocarcinoma(228;0.157) GTTCCTTACACCGAGCAGGAA 0.512000 16 32 1.15088e-07 2.20279e-07 0.004007 1 0 COL22A1 169044 broad.mit.edu 37 8 139691879 139691879 + Missense_Mutation SNP A A T rs144461812 byFrequency TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:139691879A>T ENST00000303045.6 - 40 3499 c.3053T>A c.(3052-3054)cTg>cAg p.L1018Q COL22A1_ENST00000341807.4_Intron|COL22A1_ENST00000435777.1_Intron NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1018 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity p.L1018Q(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTGCCCTCCCAGTGCACAGTT 0.403000 HNSCC(7;0.00092) 35 82 0 0 0.007835 0 0 HOXB2 3212 broad.mit.edu 37 17 46620496 46620496 + Silent SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:46620496A>G ENST00000330070.4 - 2 2172 c.1005T>C c.(1003-1005)ccT>ccC p.P335P HOXB2_ENST00000504772.3_5'UTR NM_002145.3 NP_002136.1 P14652 HXB2_HUMAN homeobox B2 335 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P335P(2) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 CCTCGGAAAAAGGGACCGGGC 0.587000 3 95 0 0 0.000248 0 0 MMP16 4325 broad.mit.edu 37 8 89053741 89053741 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr8:89053741C>A ENST00000286614.6 - 10 2053 c.1772G>T c.(1771-1773)gGa>gTa p.G591V NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 591 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding p.G591V(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GCGGGGTGTTCCTTTCCTCTT 0.448000 30 117 8.4185e-14 1.89495e-13 0.002445 1 0 RGAG1 57529 broad.mit.edu 37 X 109695218 109695218 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:109695218C>A ENST00000465301.2 + 3 1619 c.1373C>A c.(1372-1374)aCa>aAa p.T458K RGAG1_ENST00000540313.1_Missense_Mutation_p.T458K NM_020769.2 NP_065820.1 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 458 p.T458K(1) NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 ATGTCAGCCACAGCCTCTAGA 0.498000 26 171 2.44723e-14 5.65687e-14 0.004656 1 0 B3GNT6 192134 broad.mit.edu 37 11 76750717 76750717 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:76750717G>T ENST00000533140.1 + 2 260 c.122G>T c.(121-123)aGg>aTg p.R41M B3GNT6_ENST00000421061.1_Intron|B3GNT6_ENST00000354301.5_Missense_Mutation_p.R41M Q6ZMB0 B3GN6_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) 41 O-glycan processing, core 3 Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity p.R41M(2) central_nervous_system(1)|kidney(2)|lung(4)|prostate(1) 8 CGGGAGGAGAGGTCCCCGCAG 0.711000 OREG0021252 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 14 7.87624e-14 1.78627e-13 0.002780 1 0 TCERG1L 256536 broad.mit.edu 37 10 133058582 133058582 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:133058582G>T ENST00000368642.4 - 4 881 c.796C>A c.(796-798)Ccg>Acg p.P266T NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 266 p.P225T(1) cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) AAGTGGCGCGGCTGCACGCTG 0.701000 4 16 1.23904e-05 2.146e-05 0.000602 1 0 RGS18 64407 broad.mit.edu 37 1 192153501 192153501 + Silent SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:192153501T>A ENST00000367460.3 + 5 706 c.525T>A c.(523-525)gcT>gcA p.A175A NM_130782.2 NP_570138.1 Q9NS28 RGS18_HUMAN regulator of G-protein signaling 18 175 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.A175A(1) kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTTTTGATGCTGCACAAAGCA 0.388000 38 63 0 0 0.004878 0 0 POSTN 10631 broad.mit.edu 37 13 38164532 38164532 + Missense_Mutation SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr13:38164532C>G ENST00000379747.4 - 4 535 c.418G>C c.(418-420)Gag>Cag p.E140Q POSTN_ENST00000379743.4_Missense_Mutation_p.E140Q|POSTN_ENST00000541179.1_Missense_Mutation_p.E140Q|POSTN_ENST00000379749.4_Missense_Mutation_p.E140Q|POSTN_ENST00000541481.1_Missense_Mutation_p.E140Q|POSTN_ENST00000379742.4_Missense_Mutation_p.E140Q NM_006475.2 NP_006466.2 Q15063 POSTN_HUMAN periostin, osteoblast specific factor 140 FAS1 1. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding p.E140Q(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 59 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TCCCAAGCCTCATTACTCGGT 0.393000 2 6 0 0 0.004672 0 0 DNTTIP2 30836 broad.mit.edu 37 1 94335424 94335424 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:94335424T>C ENST00000436063.2 - 7 2311 c.2254A>G c.(2254-2256)Aag>Gag p.K752E NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, interacting protein 2 752 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.K752E(1) NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 38 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) CGAAATTTCTTCTTCTTTCGG 0.338000 18 34 0 0 0.004990 0 0 OR2W5 441932 broad.mit.edu 37 1 247654685 247654685 + RNA SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:247654685G>T ENST00000522351.1 + 0 316 A6NFC9 OR2W5_HUMAN sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G86W(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4) 39 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) GTGGAACCTGGGGGGTCCAGA 0.537000 34 57 1.61788e-16 3.98502e-16 0.002445 1 0 SNAP25 6616 broad.mit.edu 37 20 10286783 10286783 + Missense_Mutation SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:10286783T>A ENST00000254976.2 + 8 770 c.559T>A c.(559-561)Tcc>Acc p.S187T SNAP25-AS1_ENST00000421143.2_RNA|SNAP25_ENST00000495883.1_3'UTR|SNAP25_ENST00000304886.2_Missense_Mutation_p.S187T|SNAP25-AS1_ENST00000453544.1_RNA NM_130811.2 NP_570824.1 P60880 SNP25_HUMAN synaptosomal-associated protein, 25kDa 187 t-SNARE coiled-coil homology 2. energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome p.S187T(2) endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 18 Botulinum Toxin Type A(DB00083) CTAGGCTGATTCCAACAAAAC 0.493000 24 57 0 0 0.002299 0 0 ADCY7 113 broad.mit.edu 37 16 50349373 50349373 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:50349373T>C ENST00000394697.2 + 26 3540 c.3200T>C c.(3199-3201)gTc>gCc p.V1067A ADCY7_ENST00000254235.3_Missense_Mutation_p.V1067A P51828 ADCY7_HUMAN adenylate cyclase 7 1067 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding p.V1067A(1) breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 35 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) ACTTACTTTGTCTGTACGGAC 0.582000 6 96 0 0 0.001984 0 0 PHACTR3 116154 broad.mit.edu 37 20 58349509 58349509 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:58349509C>A ENST00000371015.1 + 7 1605 c.1138C>A c.(1138-1140)Cag>Aag p.Q380K PHACTR3_ENST00000395636.2_Missense_Mutation_p.Q339K|PHACTR3_ENST00000359926.3_Missense_Mutation_p.Q377K|PHACTR3_ENST00000541461.1_Missense_Mutation_p.Q339K|PHACTR3_ENST00000355648.4_Missense_Mutation_p.Q339K|PHACTR3_ENST00000395639.4_Missense_Mutation_p.Q269K|PHACTR3_ENST00000361300.4_Missense_Mutation_p.Q269K NM_080672.3 NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 380 nuclear matrix actin binding|protein phosphatase inhibitor activity p.Q380K(1) 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) GCTTTTGTATCAGGACGAGGA 0.507000 25 94 1.17739e-12 2.57314e-12 0.005443 1 0 TRPM8 79054 broad.mit.edu 37 2 234916722 234916722 + Missense_Mutation SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:234916722A>T ENST00000324695.4 + 24 3279 c.3239A>T c.(3238-3240)cAt>cTt p.H1080L TRPM8_ENST00000433712.2_Missense_Mutation_p.H658L NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 1080 integral to membrane p.H1080L(1) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) AGAATGAGGCATCGATTTAGA 0.338000 16 155 0 0 0.004007 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95499231 95499231 + Silent SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr7:95499231C>T ENST00000324972.6 + 6 655 c.462C>T c.(460-462)acC>acT p.T154T DYNC1I1_ENST00000447467.2_Silent_p.T137T|DYNC1I1_ENST00000457059.1_Silent_p.T137T|DYNC1I1_ENST00000437599.1_Silent_p.T134T|DYNC1I1_ENST00000537881.1_Silent_p.T117T|DYNC1I1_ENST00000359388.4_Silent_p.T117T NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 154 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity p.T154T(1) NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CAAAGGTCACCCAAGTGGATT 0.458000 28 92 0 0 0.007291 0 0 GPRC6A 222545 broad.mit.edu 37 6 117149993 117149993 + Nonsense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:117149993C>A ENST00000310357.3 - 1 205 c.184G>T c.(184-186)Gag>Tag p.E62* GPRC6A_ENST00000530250.1_Nonsense_Mutation_p.E62*|GPRC6A_ENST00000368549.3_Nonsense_Mutation_p.E62* NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 62 response to amino acid stimulus G-protein coupled receptor activity p.E62*(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CCAACACACTCCTGGATTTGT 0.383000 19 59 4.96729e-08 9.6613e-08 0.008871 1 0 ABHD8 79575 broad.mit.edu 37 19 17405099 17405099 + Nonsense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:17405099C>A ENST00000247706.3 - 4 1386 c.1147G>T c.(1147-1149)Gag>Tag p.E383* MRPL34_ENST00000600434.1_Intron|MRPL34_ENST00000595444.1_Intron NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 383 hydrolase activity p.E383*(1) central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 GCCTCTACCTCGGCCATGCGC 0.692000 5 27 3.59834e-05 6.04078e-05 0.001168 1 0 ADCK1 57143 broad.mit.edu 37 14 78399674 78399674 + Silent SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr14:78399674G>T ENST00000238561.5 + 11 1611 c.1512G>T c.(1510-1512)ggG>ggT p.G504G ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Silent_p.G436G NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 511 extracellular region ATP binding|protein serine/threonine kinase activity p.G436G(1)|p.G504G(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) GTGTGAAGGGGTTGAAGCTGG 0.527000 40 87 5.44703e-19 1.40501e-18 0.002222 1 0 FGF5 2250 broad.mit.edu 37 4 81188269 81188269 + Silent SNP C C A rs148557449 TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:81188269C>A ENST00000456523.3 + 1 477 c.291C>A c.(289-291)atC>atA p.I97I FGF5_ENST00000312465.7_Silent_p.I97I NM_033143.2 NP_149134.1 P12034 FGF5_HUMAN fibroblast growth factor 5 97 cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space fibroblast growth factor receptor binding|growth factor activity p.I97I(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 22 GAGTGGGCATCGGTTTCCATC 0.567000 25 68 1.5548e-18 3.97632e-18 0.005443 1 0 NPM1 4869 broad.mit.edu 37 5 170819773 170819773 + Missense_Mutation SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:170819773A>G ENST00000296930.5 + 5 713 c.412A>G c.(412-414)Ata>Gta p.I138V NPM1_ENST00000517671.1_Missense_Mutation_p.I138V|NPM1_ENST00000351986.6_Missense_Mutation_p.I138V|NPM1_ENST00000393820.2_Missense_Mutation_p.I138V NM_002520.6 NP_002511.1 P06748 NPM_HUMAN nucleophosmin (nucleolar phosphoprotein B23, numatrin) 138 Required for interaction with SENP3. anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding p.I138V(2) NPM1/ALK(632) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 4269 Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) ACTCTTAAGTATATCTGGAAA 0.393000 """T, F """ """ALK, RARA, MLF1""" """NHL, APL, AML""" 31 110 0 0 0.002096 0 0 CTSG 1511 broad.mit.edu 37 14 25044579 25044579 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr14:25044579C>A ENST00000216336.2 - 2 131 c.95G>T c.(94-96)cGc>cTc p.R32L NM_001911.2 NP_001902.1 P08311 CATG_HUMAN cathepsin G 32 Peptidase S1. immune response|proteolysis cell surface|extracellular space|plasma membrane|stored secretory granule heparin binding|serine-type endopeptidase activity p.R32L(1) autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1) 25 GBM - Glioblastoma multiforme(265;0.0269) CATGTAGGGGCGGGAGTGGGG 0.567000 39 117 2.59497e-14 5.97539e-14 0.007835 1 0 NCOR2 9612 broad.mit.edu 37 12 124826522 124826522 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:124826522G>A ENST00000356219.3 - 35 5211 c.5056C>T c.(5056-5058)Ctg>Ttg p.L1686L NCOR2_ENST00000404121.2_Silent_p.L1240L|NCOR2_ENST00000405201.1_Silent_p.L1679L|NCOR2_ENST00000397355.1_Silent_p.L1670L|NCOR2_ENST00000429285.2_Silent_p.L1669L|NCOR2_ENST00000404621.1_Silent_p.L1669L NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1687 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.L1679L(1)|p.L1686L(1) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CGGTTCTCCAGCGCCGCCGTG 0.657000 26 72 0 0 0.005443 0 0 MROH2B 133558 broad.mit.edu 37 5 41009403 41009403 + Missense_Mutation SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr5:41009403G>C ENST00000399564.4 - 32 3849 c.3399C>G c.(3397-3399)atC>atG p.I1133M MROH2B_ENST00000506092.2_Missense_Mutation_p.I688M NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B p.I1133M(1) CAACCCTGGCGATGTCATCTT 0.507000 34 85 0 0 0.002836 0 0 ZNF676 163223 broad.mit.edu 37 19 22362761 22362761 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:22362761C>A ENST00000397121.2 - 3 2075 c.1758G>T c.(1756-1758)gaG>gaT p.E586D NM_001001411.2 NP_001001411.2 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E586D(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTTAGGGATTCTCTCCAGTAT 0.343000 10 38 4.68919e-08 9.17981e-08 0.008291 1 0 CCDC122 160857 broad.mit.edu 37 13 44443475 44443475 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr13:44443475G>A ENST00000444614.3 - 3 296 c.38C>T c.(37-39)cCt>cTt p.P13L CCDC122_ENST00000281508.3_Missense_Mutation_p.P13L|CCDC122_ENST00000476570.2_5'UTR NM_144974.3 NP_659411.2 Q5T0U0 CC122_HUMAN coiled-coil domain containing 122 13 p.P13L(1) endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128) ACCTTCTTTAGGAAATCCTTG 0.313000 6 68 0 0 0.001168 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768669 31768669 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:31768669C>A ENST00000240587.4 - 2 2357 c.2030G>T c.(2029-2031)gGg>gTg p.G677V NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 677 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G677V(1)|p.G494V(1) breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) ATCCTTGCACCCATCCCGCGG 0.647000 10 46 1.33987e-11 2.8657e-11 0.008291 1 0 CLIC2 1193 broad.mit.edu 37 X 154508497 154508497 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:154508497C>A ENST00000369449.2 - 5 741 c.523G>T c.(523-525)Gat>Tat p.D175Y CLIC2_ENST00000465553.1_5'UTR NM_001289.4 NP_001280.3 O15247 CLIC2_HUMAN chloride intracellular channel 2 175 C-terminal.|GST C-terminal. signal transduction chloride channel complex|cytoplasm|nucleus voltage-gated chloride channel activity p.D175Y(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1) 18 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGGTCCCCATCCAAGAATAGT 0.453000 11 96 1.58986e-06 2.86939e-06 0.008291 1 0 MALAT1 378938 broad.mit.edu 37 11 65268419 65268419 + RNA SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:65268419C>T ENST00000534336.1 + 0 3187 NR_002819.2 TGAATCTTGTCTGAAGCTTTT 0.408000 7 80 0 0 0.003080 0 0 PSG1 5669 broad.mit.edu 37 19 43382204 43382204 + Silent SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:43382204T>A ENST00000244296.2 - 2 428 c.291A>T c.(289-291)ggA>ggT p.G97G PSG1_ENST00000595356.1_Silent_p.G97G|PSG1_ENST00000595124.1_Silent_p.G97G|PSG1_ENST00000403380.3_Silent_p.G97G|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000312439.6_Silent_p.G97G|PSG1_ENST00000436291.2_Silent_p.G97G NM_006905.2 NP_008836.2 pregnancy specific beta-1-glycoprotein 1 p.G97G(2) breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 Prostate(69;0.00682) CTGTTTCTCGTCCACTATATG 0.448000 76 445 0 0 0.003610 0 0 ZNF114 163071 broad.mit.edu 37 19 48789178 48789178 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:48789178C>A ENST00000595607.1 + 6 791 c.297C>A c.(295-297)caC>caA p.H99Q ZNF114_ENST00000597695.1_Missense_Mutation_p.H65Q|ZNF114_ENST00000315849.1_Missense_Mutation_p.H99Q|ZNF114_ENST00000600687.1_Missense_Mutation_p.H99Q Q8NC26 ZN114_HUMAN zinc finger protein 114 99 H -> N (in dbSNP:rs35802964). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.H99Q(1) endometrium(1)|large_intestine(6)|lung(11) 18 all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153) AGGAACCACACAGGCAGGGGG 0.478000 15 50 0.000566183 0.000922157 0.004990 1 0 TFAP2A 7020 broad.mit.edu 37 6 10415182 10415182 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:10415182C>A ENST00000379613.3 - 1 299 c.43G>T c.(43-45)Gac>Tac p.D15Y RP1-290I10.6_ENST00000443546.1_RNA|TFAP2A_ENST00000482890.1_Missense_Mutation_p.D13Y|RP1-290I10.6_ENST00000420777.1_RNA|TFAP2A_ENST00000319516.4_Intron|TFAP2A_ENST00000379604.2_Missense_Mutation_p.D13Y P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 13 ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding p.E12_D13>DY(1) breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) ACCTCGCAGTCCTCGTACTTG 0.567000 OREG0017182 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 85 9.70103e-10 1.97638e-09 0.008291 1 0 METTL3 56339 broad.mit.edu 37 14 21971722 21971722 + Splice_Site SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr14:21971722T>C ENST00000298717.4 - 3 470 c.e3-2 METTL3_ENST00000538267.1_Splice_Site NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding p.?(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) AGCATCTGGCTAGAGAACGAG 0.483000 3 93 0 0 0.000248 0 0 ZFP90 146198 broad.mit.edu 37 16 68598006 68598006 + Missense_Mutation SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:68598006A>T ENST00000570495.1 + 5 1608 c.1316A>T c.(1315-1317)cAa>cTa p.Q439L ZFP90_ENST00000398253.2_Missense_Mutation_p.Q439L|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Missense_Mutation_p.Q439L Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 439 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Q439L(1) breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) TCTCTCACTCAAGATGAAAGC 0.408000 6 95 0 0 0.001984 0 0 HECTD3 79654 broad.mit.edu 37 1 45470021 45470021 + Missense_Mutation SNP T T A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:45470021T>A ENST00000372172.4 - 17 2242 c.2171A>T c.(2170-2172)aAg>aTg p.K724M HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Missense_Mutation_p.K334M NM_024602.5 NP_078878.3 Q5T447 HECD3_HUMAN HECT domain containing E3 ubiquitin protein ligase 3 724 HECT. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm ubiquitin-protein ligase activity p.K724M(1)|p.K440M(1)|p.K334M(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1) 28 Acute lymphoblastic leukemia(166;0.155) TGGTACCACCTTCAGCAGACC 0.597000 28 62 0 0 0.001786 0 0 CSMD2 114784 broad.mit.edu 37 1 34082549 34082549 + Silent SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:34082549G>A ENST00000373381.4 - 39 6149 c.5973C>T c.(5971-5973)ccC>ccT p.P1991P CSMD2_ENST00000373377.1_Silent_p.P90P|CSMD2_ENST00000373380.1_Silent_p.P864P|CSMD2_ENST00000373388.2_Silent_p.P90P NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1951 CUB 12. integral to membrane|plasma membrane protein binding p.P1951P(1) NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCACTGTTCCGGGCATGCAGG 0.532000 22 55 0 0 0.001882 0 0 SOWAHB 345079 broad.mit.edu 37 4 77818208 77818208 + Silent SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr4:77818208A>G ENST00000334306.2 - 1 794 c.795T>C c.(793-795)gcT>gcC p.A265A NM_001029870.1 NP_001025041.1 A6NEL2 ANR56_HUMAN sosondowah ankyrin repeat domain family member B 265 Ala-rich. p.A265A(1) TGCTTGTCGCAGCCTCGACGG 0.721000 2 4 0 0 0.004672 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21358830 21358830 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr12:21358830G>T ENST00000256958.2 + 11 1456 c.1360G>T c.(1360-1362)Gta>Tta p.V454L NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 454 Kazal-like. bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity p.V454L(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TCATAGAGATGTACCACTTTC 0.383000 12 114 0.000978159 0.00158031 0.000978 1 0 PTPRD 5789 broad.mit.edu 37 9 8504367 8504367 + Silent SNP C C G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr9:8504367C>G ENST00000381196.4 - 20 2259 c.1716G>C c.(1714-1716)ctG>ctC p.L572L PTPRD_ENST00000397606.3_Silent_p.L562L|PTPRD_ENST00000397611.3_Silent_p.L569L|PTPRD_ENST00000397617.3_Silent_p.L562L|PTPRD_ENST00000540109.1_Silent_p.L572L|PTPRD_ENST00000537002.1_Silent_p.L569L|PTPRD_ENST00000358503.5_Silent_p.L559L|PTPRD_ENST00000360074.4_Silent_p.L559L|PTPRD_ENST00000486161.1_Silent_p.L572L|PTPRD_ENST00000356435.5_Silent_p.L572L|PTPRD_ENST00000355233.5_Silent_p.L572L NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 572 Fibronectin type-III 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.L572L(4) NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TCAGTCCTTGCAGCCTATATG 0.438000 TSP Lung(15;0.13) 29 84 0 0 0.008361 0 0 SAMD3 154075 broad.mit.edu 37 6 130530639 130530639 + Splice_Site SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr6:130530639C>A ENST00000532763.1 - 4 507 c.e4+1 SAMD3_ENST00000533296.1_Splice_Site|SAMD3_ENST00000324172.6_Splice_Site|SAMD3_ENST00000439090.2_Splice_Site|SAMD3_ENST00000368134.2_Splice_Site|SAMD3_ENST00000457563.2_Splice_Site|SAMD3_ENST00000437477.2_Splice_Site Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 p.?(1) breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) GGTACCCCCACCTCTGTTTCA 0.378000 10 31 7.48243e-07 1.37943e-06 0.006214 1 0 PTGS1 5742 broad.mit.edu 37 9 125148974 125148974 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr9:125148974C>A ENST00000362012.2 + 9 1264 c.1259C>A c.(1258-1260)gCc>gAc p.A420D PTGS1_ENST00000373698.5_Missense_Mutation_p.A311D|PTGS1_ENST00000223423.4_Intron|PTGS1_ENST00000540753.1_Intron NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 420 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity p.A420D(1) large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) GGGGTTGAGGCCCTGGTGGAT 0.607000 28 42 8.24728e-16 1.99864e-15 0.004656 1 0 CDX4 1046 broad.mit.edu 37 X 72667475 72667475 + Missense_Mutation SNP C C T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:72667475C>T ENST00000373514.2 + 1 386 c.386C>T c.(385-387)cCa>cTa p.P129L NM_005193.1 NP_005184.1 O14627 CDX4_HUMAN caudal type homeobox 4 129 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P129L(1) endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1) 18 Renal(35;0.156) AGCAGCCTACCAGGCCAGGCT 0.682000 12 13 0 0 0.000978 0 0 POTEH 23784 broad.mit.edu 37 22 16287480 16287480 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr22:16287480C>A ENST00000343518.6 - 1 457 c.406G>T c.(406-408)Ggc>Tgc p.G136C NM_001136213.1 NP_001129685.1 Q6S545 POTEH_HUMAN POTE ankyrin domain family, member H 136 p.G136C(1) NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2) 37 CACCACTTGCCCATCTTGCTC 0.617000 71 476 9.47431e-33 2.66078e-32 0.003610 1 0 REG1B 5968 broad.mit.edu 37 2 79313600 79313600 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:79313600G>T ENST00000305089.3 - 4 294 c.214C>A c.(214-216)Ctg>Atg p.L72M NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 72 C-type lectin. cell proliferation extracellular region sugar binding p.L72M(1) central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 ACAGACACCAGGTTGCCTGAA 0.522000 32 94 1.22384e-17 3.07751e-17 0.002836 1 0 OR8J3 81168 broad.mit.edu 37 11 55904892 55904892 + Silent SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr11:55904892C>A ENST00000301529.1 - 1 302 c.303G>T c.(301-303)ctG>ctT p.L101L NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L101L(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) AGAACCCTCCCAGTTGGGTGG 0.438000 62 108 5.08636e-23 1.3895e-22 0.003610 1 0 TTN 7273 broad.mit.edu 37 2 179397295 179397295 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:179397295G>T ENST00000589042.1 - 358 104271 c.104047C>A c.(104047-104049)Ctt>Att p.L34683I TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L33042I|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L25618I|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L25743I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L32115I|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L25810I NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33042 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.L32115I(1)|p.L25618I(1)|p.L25810I(1)|p.L32113I(1)|p.L25743I(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCTTCTTCAAGACGCAGCCTC 0.463000 25 167 2.44723e-14 5.65687e-14 0.004656 1 0 PABPC5 140886 broad.mit.edu 37 X 90691248 90691248 + Silent SNP A A T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:90691248A>T ENST00000312600.3 + 2 886 c.672A>T c.(670-672)ccA>ccT p.P224P PABPC5_ENST00000373105.1_Silent_p.P60P NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 224 RRM 3. cytoplasm nucleotide binding|RNA binding p.P224P(1) central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 AATATGGGCCAACTGAGAGTG 0.418000 25 40 0 0 0.005443 0 0 MXRA5 25878 broad.mit.edu 37 X 3242605 3242605 + Missense_Mutation SNP T T C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:3242605T>C ENST00000217939.6 - 5 1275 c.1121A>G c.(1120-1122)tAt>tGt p.Y374C NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 374 extracellular region p.Y374C(2) NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) TAGCTTTTCATAGTTTTCTCG 0.438000 16 21 0 0 0.004007 0 0 ZNF831 128611 broad.mit.edu 37 20 57768614 57768614 + Missense_Mutation SNP C C A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr20:57768614C>A ENST00000371030.2 + 1 2540 c.2540C>A c.(2539-2541)cCc>cAc p.P847H NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 847 intracellular nucleic acid binding|zinc ion binding p.P847H(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) CCAGGTGGGCCCACGCAGCCT 0.642000 15 26 1.52009e-12 3.31005e-12 0.003163 1 0 RPS6KA5 9252 broad.mit.edu 37 14 91356896 91356896 + Missense_Mutation SNP G G A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr14:91356896G>A ENST00000261991.3 - 14 1944 c.1771C>T c.(1771-1773)Cca>Tca p.P591S RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P512S NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 591 Protein kinase 2. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|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 cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity p.P591S(2) endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) AAGAGCTCTGGGGCGGCATAA 0.448000 8 47 0 0 0.006214 0 0 THUMPD1 55623 broad.mit.edu 37 16 20748497 20748497 + Missense_Mutation SNP T T G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:20748497T>G ENST00000381337.2 - 4 1111 c.767A>C c.(766-768)tAc>tCc p.Y256S THUMPD1_ENST00000396083.2_Missense_Mutation_p.Y256S|THUMPD1_ENST00000431224.2_Missense_Mutation_p.Y342S NM_017736.3 NP_060206.2 Q9NXG2 THUM1_HUMAN THUMP domain containing 1 256 p.Y256S(1) NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1) 12 AAACAACATGTAATCTTTCAC 0.418000 15 91 0 0 0.006122 0 0 CD1E 913 broad.mit.edu 37 1 158324199 158324199 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:158324199G>T ENST00000368160.3 + 2 91 c.91G>T c.(91-93)Gca>Tca p.A31S CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.A31S|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.A31S|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.A31S|CD1E_ENST00000434258.1_Missense_Mutation_p.A29S|CD1E_ENST00000368155.3_Missense_Mutation_p.A31S|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.A31S|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.A31S NM_001042583.2 NP_001036048.1 P15812 CD1E_HUMAN CD1e molecule 31 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen p.A31S(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TCATCTAGCAGCAGAGGAGCA 0.527000 51 164 1.77205e-36 5e-36 0.003610 1 0 CDR2L 30850 broad.mit.edu 37 17 72999924 72999924 + Missense_Mutation SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:72999924G>C ENST00000337231.5 + 5 1565 c.1153G>C c.(1153-1155)Ggc>Cgc p.G385R NM_014603.2 NP_055418.2 Q86X02 CDR2L_HUMAN cerebellar degeneration-related protein 2-like 385 p.G379R(1) all_lung(278;0.226) GCGGCACGCCGGCGTGCAGAC 0.697000 5 1 0 0 0.000602 0 0 ASH1L 55870 broad.mit.edu 37 1 155327141 155327141 + Missense_Mutation SNP G G C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:155327141G>C ENST00000368346.3 - 15 7675 c.7036C>G c.(7036-7038)Caa>Gaa p.Q2346E ASH1L_ENST00000392403.3_Missense_Mutation_p.Q2341E Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2346 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding p.Q2341E(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) ATCTGTAATTGGGGGGTCAAT 0.358000 9 96 0 0 0.006214 0 0 LIPI 149998 broad.mit.edu 37 21 15561682 15561682 + Silent SNP A A G TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr21:15561682A>G ENST00000344577.2 - 2 193 c.168T>C c.(166-168)gaT>gaC p.D56D LIPI_ENST00000536861.1_Silent_p.D35D NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 35 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.D56D(1) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) GAATAAATAAATCTCTGAAGG 0.353000 39 59 0 0 0.005524 0 0 PAPPA2 60676 broad.mit.edu 37 1 176811562 176811562 + Frame_Shift_Del DEL G G - TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr1:176811562delG ENST00000367662.3 + 23 6512 c.5348delG c.(5347-5349)cgfs p.R1783fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1783 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.R1783L(1) NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TGCACCTGCCGGGACCCCAAG 0.512 10 57 --- --- --- --- SCN7A 6332 broad.mit.edu 37 2 167322380 167322380 + Frame_Shift_Del DEL C C - TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:167322380delC ENST00000409855.1 - 7 908 c.782delG c.(781-783)gcfs p.G261fs NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 261 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TTTCAAGTTGCCCATGAAGAG 0.413 15 115 --- --- --- --- DYTN 391475 broad.mit.edu 37 2 207528023 207528023 + Frame_Shift_Del DEL C C - TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr2:207528023delC ENST00000452335.2 - 11 1353 c.1237delG c.(1237-1239)atfs p.D413fs NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 413 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TGCAAATAATCCCCTCCCTTT 0.468 17 123 --- --- --- --- SFMBT1 51460 broad.mit.edu 37 3 52945171 52945172 + Frame_Shift_Ins INS - - C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr3:52945171_52945172insC ENST00000394752.3 - 17 2135_2136 c.1753_1754insG c.(1753-1755)tacfs p.Y585fs SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.Y585fs|SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.Y585fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.Y585fs NM_016329.3 NP_057413.2 Q9UHJ3 SMBT1_HUMAN Scm-like with four mbt domains 1 585 regulation of transcription, DNA-dependent nucleus breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 24 BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113) CTCAACAGTAGCCCGATAACTC 0.421 16 76 --- --- --- --- MTPAP 55149 broad.mit.edu 37 10 30604933 30604934 + Frame_Shift_Ins INS - - A TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:30604933_30604934insA ENST00000358107.4 - 9 1733_1734 c.1734_1735insT c.(1732-1737)ttgcaafs p.LQ578fs MTPAP_ENST00000263063.3_Frame_Shift_Ins_p.LQ448fs|MTPAP_ENST00000488290.1_5'UTR Q9NVV4 PAPD1_HUMAN mitochondrial poly(A) polymerase 448 cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding p.G449fs*7(1)|p.G579fs*7(1) breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 GCAAAATTGCCAAAATACTCAA 0.292 15 26 --- --- --- --- RP11-170M17.1 0 broad.mit.edu 37 10 65662136 65662136 + RNA DEL T T - TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:65662136delT ENST00000444770.1 + 0 494 GGGCTTGCCATTTTTTTTTGA 0.368 2 4 --- --- --- --- CNNM2 54805 broad.mit.edu 37 10 104816716 104816716 + Frame_Shift_Del DEL C C - TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr10:104816716delC ENST00000369878.3 + 4 2192 c.2068delC c.(2068-2070)tgfs p.L690fs CNNM2_ENST00000457502.2_Frame_Shift_Del_p.L448fs|CNNM2_ENST00000433628.2_Frame_Shift_Del_p.L690fs NM_017649.4 NP_060119.3 Q9H8M5 CNNM2_HUMAN cyclin M2 690 ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) CGTTCTCATTCTGCAGGTCAG 0.433 56 123 --- --- --- --- KL 9365 broad.mit.edu 37 13 33635564 33635565 + Frame_Shift_Ins INS - - T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr13:33635564_33635565insT ENST00000380099.3 + 4 2356_2357 c.2348_2349insT c.(2347-2349)attfs p.I783fs KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 783 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CAAAGAAACAATTTTCTTCTTC 0.426 25 47 --- --- --- --- SNX29P2 440352 broad.mit.edu 37 16 29438362 29438363 + RNA DEL AT AT - rs151067447 TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:29438362_29438363delAT ENST00000398878.3 + 0 5991 TTCATATATCATATGACTTCTA 0.322 4 2 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32095553 32095553 + RNA DEL G G - TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:32095553delG ENST00000566806.1 - 0 499 CTGGGGCCCCGAGGGAGATGT 0.642 2 4 --- --- --- --- RP11-252A24.2 0 broad.mit.edu 37 16 74372178 74372178 + RNA DEL C C - rs113003755 TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr16:74372178delC ENST00000429810.2 - 0 2018 gtctggaactcctgacttcag 0.502 2 4 --- --- --- --- GAST 2520 broad.mit.edu 37 17 39871829 39871829 + Frame_Shift_Del DEL G G - TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:39871829delG ENST00000329402.3 + 2 208 c.141delG c.(139-141)ctfs p.L47fs JUP_ENST00000540235.1_Intron NM_000805.4 NP_000796.1 P01350 GAST_HUMAN gastrin 47 extracellular region hormone activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Breast(137;0.000307) BRCA - Breast invasive adenocarcinoma(4;0.0677) TACCCTGGCTGGAGCAGCAGG 0.652 38 78 --- --- --- --- ITGB4 3691 broad.mit.edu 37 17 73747115 73747122 + Frame_Shift_Del DEL GCTGGGCT GCTGGGCT - TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr17:73747115_73747122delGCTGGGCT ENST00000200181.3 + 30 3903_3910 c.3716_3723delGCTGGGCT c.(3715-3723)afs p.SWA1239fs ITGB4_ENST00000449880.2_Frame_Shift_Del_p.SWA1239fs|ITGB4_ENST00000579662.1_Frame_Shift_Del_p.SWA1239fs|ITGB4_ENST00000450894.3_Frame_Shift_Del_p.SWA1239fs|ITGB4_ENST00000339591.3_Frame_Shift_Del_p.SWA1239fs NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 1239 Fibronectin type-III 2. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity p.A1241V(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ACCCAGCTGAGCTGGGCTGAGCCGGCTG 0.596 11 78 --- --- --- --- FAM98C 147965 broad.mit.edu 37 19 38899502 38899504 + In_Frame_Del DEL AAG AAG - TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chr19:38899502_38899504delAAG ENST00000252530.5 + 8 1049_1051 c.1030_1032delAAG c.(1030-1032)del p.K349del FAM98C_ENST00000588262.1_3'UTR|FAM98C_ENST00000343358.7_In_Frame_Del_p.K267del NM_174905.3 NP_777565.3 Q17RN3 FA98C_HUMAN family with sequence similarity 98, member C 349 endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 15 all_cancers(60;3.95e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TTGGGGTCGCAAGAAGAAGAAGA 0.606 8 91 --- --- --- --- RP5-1158E12.1 0 broad.mit.edu 37 X 45773201 45773202 + RNA INS - - C TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:45773201_45773202insC ENST00000420585.1 - 0 266_267 TACCTGCTCCACCCTCAAAGGG 0.465 12 16 --- --- --- --- PCDH19 57526 broad.mit.edu 37 X 99551618 99551618 + Frame_Shift_Del DEL C C - TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 57e3657d-7a3c-4d80-a2c2-2de0293f5f05 f54f5b4b-f15b-4f65-9c0b-c0656d57413b g.chrX:99551618delC ENST00000373034.4 - 6 4779 c.3104delG c.(3103-3105)gcfs p.G1035fs PCDH19_ENST00000255531.7_Frame_Shift_Del_p.G988fs|PCDH19_ENST00000420881.2_Frame_Shift_Del_p.G987fs NM_001184880.1 NP_001171809.1 Q8TAB3 PCD19_HUMAN protocadherin 19 1035 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 68 AGTCCTCTTGCCTTTCAGGGT 0.597 14 29 --- --- --- ---