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 PITPNM2 57605 broad.mit.edu 37 12 123497231 123497231 + Missense_Mutation SNP T T A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr12:123497231T>A ENST00000280562.5 - 4 549 c.344A>T c.(343-345)tAt>tTt p.Y115F PITPNM2_ENST00000320201.4_Missense_Mutation_p.Y115F|PITPNM2_ENST00000542749.1_Missense_Mutation_p.Y115F|PITPNM2_ENST00000392428.1_Intron|PITPNM2_ENST00000546049.1_Missense_Mutation_p.Y115F|PITPNM2_ENST00000451868.2_5'UTR Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 115 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding p.Y115F(1) NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) ATCAGTTTTATAAAAGGTTTC 0.512000 42 211 0 0 0.002852 0 0 SASH1 23328 broad.mit.edu 37 6 148869469 148869469 + Silent SNP C C T rs111485793 byFrequency TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:148869469C>T ENST00000367467.3 + 20 3994 c.3519C>T c.(3517-3519)ccC>ccT p.P1173P NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1173 protein binding p.P1173P(1) breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GCCGAAAGCCCGTCTCTCCTG 0.522000 8 99 0 0 0.008291 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817525 21817525 + RNA SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:21817525C>T ENST00000546471.1 - 0 1533 TACACTAATCCTTAGTAAGTT 0.284000 3 18 0 0 0.000602 0 0 MTF1 4520 broad.mit.edu 37 1 38288038 38288038 + Missense_Mutation SNP A A G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:38288038A>G ENST00000373036.4 - 9 1662 c.1522T>C c.(1522-1524)Tca>Cca p.S508P NM_005955.2 NP_005946.2 Q14872 MTF1_HUMAN metal-regulatory transcription factor 1 508 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding p.S508P(1) endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1) 31 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) GCCGCTGCTGATGCAGAAGCC 0.587000 3 43 0 0 0.004672 0 0 MARK1 4139 broad.mit.edu 37 1 220808734 220808734 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:220808734C>G ENST00000402574.1 + 12 1736 c.734C>G c.(733-735)tCg>tGg p.S245W MARK1_ENST00000366918.4_Missense_Mutation_p.S358W|MARK1_ENST00000366917.4_Missense_Mutation_p.S380W NM_018650.3 NP_061120.3 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 380 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.S380W(1) central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) GGTGGTGAATCGTTATCCAGT 0.403000 3 58 0 0 0.004672 0 0 HSPA12A 259217 broad.mit.edu 37 10 118460544 118460544 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr10:118460544G>A ENST00000369209.3 - 4 455 c.351C>T c.(349-351)gcC>gcT p.A117A NM_025015.2 NP_079291.2 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 117 ATP binding p.A738A(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all cancers(201;0.0158) AGTCCCTGGCGGCATACCCGA 0.567000 9 82 0 0 0.004482 0 0 UBR4 23352 broad.mit.edu 37 1 19481946 19481946 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:19481946C>T ENST00000375267.2 - 43 6292 c.6289G>A c.(6289-6291)Gag>Aag p.E2097K UBR4_ENST00000375254.3_Missense_Mutation_p.E2097K|UBR4_ENST00000375217.2_Missense_Mutation_p.E2097K|UBR4_ENST00000375226.2_Missense_Mutation_p.E2097K Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2097 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding p.E2097K(2) breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TTCAGGTCCTCATGATTGATT 0.398000 5 85 0 0 0.000602 0 0 CACNA1G 8913 broad.mit.edu 37 17 48678500 48678500 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:48678500G>A ENST00000352832.5 + 18 4183 c.3811G>A c.(3811-3813)Gcc>Acc p.A1271T CACNA1G_ENST00000503485.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000515411.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000514717.1_Missense_Mutation_p.A1271T|CACNA1G_ENST00000515165.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000514079.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000507336.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000429973.2_Missense_Mutation_p.A1294T|CACNA1G_ENST00000515765.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000510366.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000507896.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000513964.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000510115.1_Missense_Mutation_p.A1271T|CACNA1G_ENST00000502264.1_Missense_Mutation_p.A1271T|CACNA1G_ENST00000512389.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000354983.4_Missense_Mutation_p.A1271T|CACNA1G_ENST00000507510.2_Missense_Mutation_p.A1294T|CACNA1G_ENST00000359106.5_Missense_Mutation_p.A1294T|CACNA1G_ENST00000514181.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000507609.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000513689.2_Missense_Mutation_p.A1294T|CACNA1G_ENST00000416767.4_Missense_Mutation_p.A1294T|CACNA1G_ENST00000358244.5_Missense_Mutation_p.A1271T|CACNA1G_ENST00000505165.1_Missense_Mutation_p.A1294T|CACNA1G_ENST00000360761.4_Missense_Mutation_p.A1271T|CACNA1G_ENST00000442258.2_Missense_Mutation_p.A1271T 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 1294 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity p.A1294T(3)|p.A1271T(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) CATCACCATCGCCATGGAGCG 0.592000 6 62 0 0 0.001168 0 0 CLINT1 9685 broad.mit.edu 37 5 157218721 157218721 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr5:157218721G>A ENST00000523094.1 - 10 1521 c.1316C>T c.(1315-1317)tCa>tTa p.S439L CLINT1_ENST00000411809.2_Missense_Mutation_p.S457L|CLINT1_ENST00000296951.5_Missense_Mutation_p.S439L|CLINT1_ENST00000523908.1_Missense_Mutation_p.S457L|CLINT1_ENST00000530742.1_Missense_Mutation_p.S439L NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 457 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding p.S439L(2) breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGTGATCTTGACATAGGCAA 0.378000 7 291 0 0 0.003080 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443439 5443439 + Missense_Mutation SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr11:5443439G>C ENST00000300778.4 + 1 99 c.9G>C c.(7-9)caG>caC p.Q3H HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Q3H(1) endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCATGTCCCAGGTGACTAACA 0.448000 16 115 0 0 0.004007 0 0 TP53 7157 broad.mit.edu 37 17 7578212 7578212 + Nonsense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:7578212G>A ENST00000420246.2 - 6 769 c.637C>T c.(637-639)Cga>Tga p.R213* TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 213 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACACTATGTCGAAAAGTGTTT 0.532000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 18 16 0 0 0.008871 0 0 DNAH2 146754 broad.mit.edu 37 17 7643738 7643738 + Splice_Site SNP G G T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:7643738G>T ENST00000572933.1 + 10 2837 c.1376_splice c.e10-1 p.K459_splice DNAH2_ENST00000389173.2_Splice_Site_p.K459_splice|DNAH2_ENST00000082259.3_Splice_Site_p.K541_splice|DNAH2_ENST00000570791.1_Splice_Site_p.K541_splice Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 459 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.K459N(1) NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) ACCGGTGCAGGTTCCGTGCCG 0.622000 25 123 1.96895e-08 2.59901e-08 0.002780 1 0 ZFHX3 463 broad.mit.edu 37 16 72991714 72991714 + Silent SNP C C A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:72991714C>A ENST00000268489.5 - 2 3003 c.2331G>T c.(2329-2331)gtG>gtT p.V777V ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 777 Poly-Ala. V -> A (in dbSNP:rs4788682). 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.V777V(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) ccgccgcagccaccgccgccg 0.637000 5 51 3.59834e-05 4.70278e-05 0.001168 1 0 SYP 6855 broad.mit.edu 37 X 49048091 49048091 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chrX:49048091C>T ENST00000263233.4 - 6 817 c.745G>A c.(745-747)Gcc>Acc p.A249T SYP_ENST00000538567.1_Missense_Mutation_p.A131T|SYP_ENST00000479808.1_Missense_Mutation_p.A249T NM_003179.2 NP_003170.1 P08247 SYPH_HUMAN synaptophysin 249 regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization cell junction|integral to synaptic vesicle membrane|synaptosome calcium ion binding|cholesterol binding|transporter activity p.A249T(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1) 15 all_lung(315;0.00016) TCGCCGTAGGCGTCCCCGGGT 0.706000 19 18 0 0 0.008871 0 0 SPHKAP 80309 broad.mit.edu 37 2 228881884 228881884 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:228881884C>T ENST00000392056.3 - 7 3732 c.3686G>A c.(3685-3687)cGa>cAa p.R1229Q SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1229Q NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1229 cytoplasm protein binding p.R1229Q(2) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CACTGGGGATCGCAGAGAAGG 0.567000 6 111 0 0 0.001168 0 0 STIP1 10963 broad.mit.edu 37 11 63965325 63965325 + Splice_Site SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr11:63965325G>C ENST00000358794.5 + 8 1596 c.e8-1 STIP1_ENST00000305218.4_Splice_Site|STIP1_ENST00000538945.1_Splice_Site P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 axon guidance|response to stress Golgi apparatus|nucleus p.?(1) endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 TTCTTTATCAGAGCATATGCT 0.463000 5 352 0 0 0.001168 0 0 PRDM2 7799 broad.mit.edu 37 1 14107311 14107311 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:14107311C>T ENST00000235372.7 + 8 3877 c.3021C>T c.(3019-3021)tgC>tgT p.C1007C PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.C806C|PRDM2_ENST00000343137.4_Silent_p.C806C|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Silent_p.C1007C NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1007 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.C1007C(1) endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) CACACCCATGCCCCTCTCCAC 0.617000 5 120 0 0 0.000602 0 0 SEC14L5 9717 broad.mit.edu 37 16 5064922 5064922 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:5064922C>T ENST00000251170.7 + 16 2222 c.2042C>T c.(2041-2043)tCg>tTg p.S681L RP11-165E7.1_ENST00000588778.1_RNA NM_014692.1 NP_055507.1 O43304 S14L5_HUMAN SEC14-like 5 (S. cerevisiae) 681 Ser-rich. integral to membrane|intracellular transporter activity p.S681L(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1) 29 GCCGCCACCTCGTCCTCCTCC 0.652000 7 81 0 0 0.004482 0 0 ATRNL1 26033 broad.mit.edu 37 10 117486774 117486774 + Missense_Mutation SNP G G T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr10:117486774G>T ENST00000355044.3 + 27 3938 c.3812G>T c.(3811-3813)cGa>cTa p.R1271L ATRNL1_ENST00000303745.7_Missense_Mutation_p.R64L|ATRNL1_ENST00000423111.2_Missense_Mutation_p.R322L NM_207303.2 NP_997186.1 Q5VV63 ATRN1_HUMAN attractin-like 1 1271 integral to membrane sugar binding p.R1271L(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CTTCGAGAACGACAGCAGATG 0.433000 7 48 0.000157383 0.000201695 0.003080 1 0 PARP3 10039 broad.mit.edu 37 3 51978890 51978890 + Missense_Mutation SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr3:51978890G>C ENST00000417220.2 + 6 1086 c.598G>C c.(598-600)Gag>Cag p.E200Q PARP3_ENST00000398755.3_Missense_Mutation_p.E207Q|PARP3_ENST00000431474.1_Missense_Mutation_p.E200Q Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 200 PARP alpha-helical. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding p.E207Q(1) ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CTTCAGCAAGGAGATGTTCAA 0.622000 5 45 0 0 0.001984 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411157 32411157 + Missense_Mutation SNP A A G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:32411157A>G ENST00000395388.2 + 3 633 c.524A>G c.(523-525)tAt>tGt p.Y175C HLA-DRA_ENST00000374982.5_Missense_Mutation_p.Y150C NM_019111.4 NP_061984.2 P01903 DRA_HUMAN major histocompatibility complex, class II, DR alpha 175 Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity p.Y175C(1) NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 19 AAGTTCCACTATCTCCCCTTC 0.547000 T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of 13 131 0 0 0.002450 0 0 RDH8 50700 broad.mit.edu 37 19 10127840 10127840 + Missense_Mutation SNP G G C rs144177019 TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:10127840G>C ENST00000591589.1 + 2 460 c.271G>C c.(271-273)Gag>Cag p.E91Q RDH8_ENST00000171214.1_Missense_Mutation_p.E71Q Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 71 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity p.E71Q(1) endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) GTGCAGTGATGAGTCGGTGGC 0.612000 3 16 0 0 0.004672 0 0 ARPC2 10109 broad.mit.edu 37 2 219103426 219103426 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:219103426C>T ENST00000295685.10 + 5 569 c.308C>T c.(307-309)cCg>cTg p.P103L ARPC2_ENST00000315717.5_Missense_Mutation_p.P103L|ARPC2_ENST00000477992.1_3'UTR NM_005731.2 NP_005722.1 O15144 ARPC2_HUMAN actin related protein 2/3 complex, subunit 2, 34kDa 103 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton p.P103L(1) cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 6 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) GAAAATCTTCCGGCATCCAAG 0.373000 5 224 0 0 0.000602 0 0 SLC7A2 6542 broad.mit.edu 37 8 17412165 17412165 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr8:17412165G>A ENST00000494857.1 + 8 1370 c.1152G>A c.(1150-1152)acG>acA p.T384T SLC7A2_ENST00000470360.1_Intron|SLC7A2_ENST00000398090.3_Intron|SLC7A2_ENST00000004531.10_Silent_p.T424T|SLC7A2_ENST00000522656.1_Silent_p.T384T NM_001008539.3 NP_001008539.3 P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 384 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity p.T384T(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) ATTCCAAAACGAAGACACCAA 0.433000 5 118 0 0 0.000602 0 0 AFG3L2 10939 broad.mit.edu 37 18 12367060 12367060 + Silent SNP C C T rs146182382 TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr18:12367060C>T ENST00000269143.3 - 5 687 c.456G>A c.(454-456)ctG>ctA p.L152L NM_006796.2 NP_006787.2 Q9Y4W6 AFG32_HUMAN AFG3-like AAA ATPase 2 152 cell death|protein catabolic process|proteolysis integral to membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding p.L152L(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1) 27 Adenosine triphosphate(DB00171) CACCCCAGAACAGAGCAGTCC 0.458000 16 48 0 0 0.003163 0 0 EFTUD1 79631 broad.mit.edu 37 15 82532838 82532838 + Missense_Mutation SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr15:82532838T>C ENST00000268206.7 - 6 605 c.437A>G c.(436-438)aAt>aGt p.N146S EFTUD1_ENST00000359445.3_Missense_Mutation_p.N95S NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 146 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity p.N146S(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 ATCAATCTTATTAATCACTAA 0.348000 14 26 0 0 0.002450 0 0 GABRA6 2559 broad.mit.edu 37 5 161117220 161117220 + Silent SNP A A T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr5:161117220A>T ENST00000523217.1 + 7 899 c.657A>T c.(655-657)atA>atT p.I219I GABRA6_ENST00000274545.5_Silent_p.I229I NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 229 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.I229I(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AATACGTTATAATGACAGTTT 0.358000 TCGA Ovarian(5;0.080) 7 106 0 0 0.003080 0 0 ZFP91 80829 broad.mit.edu 37 11 58381734 58381734 + Missense_Mutation SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr11:58381734G>C ENST00000316059.6 + 9 1191 c.1020G>C c.(1018-1020)aaG>aaC p.K340N ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.K340N NM_001197051.1|NM_053023.4 NP_001183980.1|NP_444251.1 Q96JP5 ZFP91_HUMAN ZFP91 zinc finger protein 340 Interaction with MAP3K14/NIK. activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding p.K340N(2) cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 26 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TGCTGAAGAAGAAATATGTAT 0.398000 14 73 0 0 0.002450 0 0 TRIM39 56658 broad.mit.edu 37 6 30309601 30309601 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:30309601G>A ENST00000376659.5 + 8 1630 c.1032G>A c.(1030-1032)agG>agA p.R344R TRIM39_ENST00000376656.4_Silent_p.R374R|TRIM39_ENST00000396548.1_Silent_p.R344R|TRIM39_ENST00000396547.1_Silent_p.R374R|TRIM39_ENST00000540416.1_Silent_p.R344R|TRIM39-RPP21_ENST00000513556.1_Silent_p.R256R|TRIM39_ENST00000396551.3_Silent_p.R344R NM_172016.2 NP_742013.1 tripartite motif containing 39 p.R374R(1) ovary(3) 3 ACACACCAAGGCGTTTCACCT 0.572000 6 55 0 0 0.001984 0 0 NDUFB11 54539 broad.mit.edu 37 X 47001817 47001817 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chrX:47001817C>T ENST00000377811.3 - 3 1185 c.361G>A c.(361-363)Gaa>Aaa p.E121K NDUFB11_ENST00000276062.8_Missense_Mutation_p.E131K NM_001135998.2 NP_001129470.1 Q9NX14 NDUBB_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 121 respiratory electron transport chain|transport integral to membrane|mitochondrial respiratory chain complex I p.E131K(1) endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1) 7 CTCTCAGCTTCGCGGCGGGAC 0.552000 3 55 0 0 0.004672 0 0 MYH4 4622 broad.mit.edu 37 17 10352023 10352023 + Silent SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:10352023G>C ENST00000255381.2 - 32 4553 c.4443C>G c.(4441-4443)ctC>ctG p.L1481L CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1481 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.L1481L(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GCTCAGTGCTGAGAGAACGCG 0.453000 7 112 0 0 0.003080 0 0 OR5D13 390142 broad.mit.edu 37 11 55541387 55541387 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr11:55541387C>T ENST00000361760.1 + 1 474 c.474C>T c.(472-474)tcC>tcT p.S158S NM_001001967.1 NP_001001967.1 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, member 13 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S158S(2) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) TAGTGTGCTCCCTGATACTCA 0.408000 20 229 0 0 0.007413 0 0 SETD6 79918 broad.mit.edu 37 16 58550737 58550737 + Missense_Mutation SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:58550737G>C ENST00000394266.4 + 6 546 c.490G>C c.(490-492)Gag>Cag p.E164Q SETD6_ENST00000219315.4_Missense_Mutation_p.E233Q|SETD6_ENST00000310682.2_Missense_Mutation_p.E209Q|SETD6_ENST00000418480.1_3'UTR Q8TBK2 SETD6_HUMAN SET domain containing 6 233 SET. negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity p.E209Q(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 7 GGAGGAAGAAGAGGATGAAAA 0.517000 9 210 0 0 0.006214 0 0 RPS26 6231 broad.mit.edu 37 12 56436228 56436228 + Missense_Mutation SNP A A G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr12:56436228A>G ENST00000356464.5 + 2 337 c.23A>G c.(22-24)aAt>aGt p.N8S RPS26_ENST00000552361.1_Missense_Mutation_p.N8S P62854 RS26_HUMAN ribosomal protein S26 8 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit mRNA binding|protein binding|structural constituent of ribosome p.N8S(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 7 OV - Ovarian serous cystadenocarcinoma(18;0.123) AGAAGGAACAATGGTCGTGCC 0.552000 11 53 0 0 0.001368 0 0 DCX 1641 broad.mit.edu 37 X 110654183 110654183 + Missense_Mutation SNP T T C rs150627878 TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chrX:110654183T>C ENST00000338081.3 - 1 191 c.20A>G c.(19-21)cAt>cGt p.H7R DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000488120.1_Intron|DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 7 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding p.H7R(1) breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 ACAATGACTATGAAGGGGGAG 0.438000 70 102 0 0 0.003610 0 0 TNFSF10 8743 broad.mit.edu 37 3 172224321 172224321 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr3:172224321G>A ENST00000241261.2 - 5 929 c.807C>T c.(805-807)gaC>gaT p.D269D TNFSF10_ENST00000420541.2_3'UTR NM_003810.3 NP_003801.1 P50591 TNF10_HUMAN tumor necrosis factor (ligand) superfamily, member 10 269 activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane|soluble fraction cytokine activity|metal ion binding|tumor necrosis factor receptor binding p.D269D(1) breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4) 15 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) TGGCTTCATGGTCCATGTCTA 0.368000 4 64 0 0 0.000248 0 0 ARL16 339231 broad.mit.edu 37 17 79650121 79650121 + Silent SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:79650121T>C ENST00000397498.4 - 3 326 c.228A>G c.(226-228)agA>agG p.R76R ARL16_ENST00000573392.1_Intron|ARL16_ENST00000570561.1_5'UTR|ARL16_ENST00000576135.1_5'UTR|ARL16_ENST00000574938.1_Intron NM_001040025.1 NP_001035114.1 Q0P5N6 ARL16_HUMAN ADP-ribosylation factor-like 16 76 GTP binding p.R76R(1) central_nervous_system(1)|endometrium(1)|lung(4)|skin(1) 7 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TGGTGATCTTTCTCTGTGCCA 0.507000 5 213 0 0 0.000602 0 0 UBQLN2 29978 broad.mit.edu 37 X 56591554 56591554 + Silent SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chrX:56591554T>C ENST00000338222.5 + 1 1529 c.1248T>C c.(1246-1248)ttT>ttC p.F416F NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 416 cytoplasm|nucleus|plasma membrane binding p.F416F(1) breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 GCCCGCTGTTTACTGCAAATC 0.527000 9 22 0 0 0.004482 0 0 LINGO4 339398 broad.mit.edu 37 1 151773644 151773644 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:151773644C>T ENST00000368820.3 - 2 2474 c.1537G>A c.(1537-1539)Gac>Aac p.D513N NM_001004432.2 NP_001004432.1 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 513 integral to membrane p.D513N(1) breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ATGTTGGGGTCAGAAAGTGTG 0.577000 18 218 0 0 0.004990 0 0 SGK3 23678 broad.mit.edu 37 8 67734616 67734616 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr8:67734616C>T ENST00000396596.1 + 6 553 c.339C>T c.(337-339)gtC>gtT p.V113V SGK3_ENST00000345714.4_Silent_p.V113V|SGK3_ENST00000521198.2_Silent_p.V113V|C8orf44-SGK3_ENST00000519289.1_Silent_p.V113V|SGK3_ENST00000522398.1_Silent_p.V113V|SGK3_ENST00000520976.1_Silent_p.V113V NM_013257.4 NP_037389.4 Q96BR1 SGK3_HUMAN serum/glucocorticoid regulated kinase family, member 3 113 PX. cell communication|response to stress cytoplasmic membrane-bounded vesicle|early endosome ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity p.V46V(1)|p.V113V(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 18 Breast(64;0.186) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206) GTCCAGATGTCAGAGCATTCC 0.333000 12 166 0 0 0.000978 0 0 SYNGAP1 8831 broad.mit.edu 37 6 33406039 33406039 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:33406039C>T ENST00000418600.2 + 8 1458 c.1357C>T c.(1357-1359)Cac>Tac p.H453Y SYNGAP1_ENST00000428982.2_Missense_Mutation_p.H394Y|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.H453Y|SYNGAP1_ENST00000496374.1_3'UTR NM_006772.2 NP_006763.2 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 453 Ras-GAP. negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding p.H453Y(1)|p.H438Y(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1) 43 TGCACTAGTTCACATCCTGCA 0.547000 21 214 0 0 0.001882 0 0 SCIN 85477 broad.mit.edu 37 7 12692224 12692224 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:12692224C>T ENST00000297029.5 + 16 2133 c.2032C>T c.(2032-2034)Ctt>Ttt p.L678F SCIN_ENST00000519209.1_Missense_Mutation_p.L431F|SCIN_ENST00000445618.2_Missense_Mutation_p.L431F NM_001112706.2 NP_001106177.1 Q9Y6U3 ADSV_HUMAN scinderin 678 Ca(2+)-dependent actin binding. actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation cell cortex|cytoskeleton 1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding p.L678F(2) endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2) 17 UCEC - Uterine corpus endometrioid carcinoma (126;0.195) CAAAATGTACCTTGAGACAGA 0.393000 3 80 0 0 0.004672 0 0 ACO2 50 broad.mit.edu 37 22 41919908 41919908 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr22:41919908C>T ENST00000396512.3 + 12 1537 c.1520C>T c.(1519-1521)gCa>gTa p.A507V ACO2_ENST00000216254.4_Missense_Mutation_p.A482V Q99798 ACON_HUMAN aconitase 2, mitochondrial 482 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity p.A482V(1) breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CGCAACGACGCAAACCCCGAG 0.607000 15 28 0 0 0.004007 0 0 IRF9 10379 broad.mit.edu 37 14 24621036 24621036 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr14:24621036C>T ENST00000558468.1 + 3 390 c.390C>T c.(388-390)agC>agT p.S130S RNF31_ENST00000559275.1_Silent_p.S504S|RNF31_ENST00000324103.6_Silent_p.S655S|RNF31_ENST00000382687.3_Silent_p.S504S p.S655S(1) CACTCCCCAGCTGGGGCCGGG 0.617000 17 112 0 0 0.007413 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 44 67 0 0 0.002522 0 0 NDUFB2 4708 broad.mit.edu 37 7 140402790 140402790 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:140402790C>T ENST00000476279.1 + 2 297 c.223C>T c.(223-225)Cat>Tat p.H75Y NDUFB2_ENST00000204307.5_Missense_Mutation_p.H65Y|NDUFB2_ENST00000247866.4_Missense_Mutation_p.H75Y|NDUFB2_ENST00000460088.1_Missense_Mutation_p.H11Y|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000471136.1_Missense_Mutation_p.H63Y|NDUFB2_ENST00000482954.1_Missense_Mutation_p.H11Y|NDUFB2_ENST00000465506.1_Missense_Mutation_p.H75Y|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000472695.1_Missense_Mutation_p.H11Y|NDUFB2_ENST00000476470.1_Missense_Mutation_p.H11Y|NDUFB2_ENST00000475276.1_Missense_Mutation_p.H48Y O95178 NDUB2_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa 75 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity p.H75Y(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1) 10 Melanoma(164;0.00956) NADH(DB00157) GCGCTTTTGGCATGACTCAGA 0.507000 5 319 0 0 0.001984 0 0 PKD1L1 168507 broad.mit.edu 37 7 47835714 47835714 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:47835714C>G ENST00000289672.2 - 55 8278 c.8228G>C c.(8227-8229)aGa>aCa p.R2743T C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2743 cell-cell adhesion integral to membrane p.R2743T(1) BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AAAAGATTTTCTTTTTTGGGG 0.343000 12 102 0 0 0.001368 0 0 F2RL3 9002 broad.mit.edu 37 19 17000388 17000388 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:17000388C>G ENST00000248076.3 + 2 444 c.114C>G c.(112-114)agC>agG p.S38R F2RL3_ENST00000599210.1_Splice_Site_p.A37_splice NM_003950.2 NP_003941.2 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 38 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity p.S38R(1) cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 TCCCAGACAGCACGCCCTCAA 0.667000 7 80 0 0 0.004482 0 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 5 59 0 0 0.001168 0 0 ACAA2 10449 broad.mit.edu 37 18 47322175 47322175 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr18:47322175C>G ENST00000285093.10 - 4 864 c.389G>C c.(388-390)aGa>aCa p.R130T ACAA2_ENST00000589432.1_Missense_Mutation_p.R75T|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000587994.1_Missense_Mutation_p.R127T NM_006111.2 NP_006102.2 P42765 THIM_HUMAN acetyl-CoA acyltransferase 2 130 anti-apoptosis|cholesterol biosynthetic process acetyl-CoA C-acyltransferase activity|protein binding p.R130T(1) large_intestine(2)|lung(7)|ovary(1) 10 ACGCACATTTCTGACACAGTA 0.323000 7 86 0 0 0.004482 0 0 BCL2L12 83596 broad.mit.edu 37 19 50170394 50170394 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:50170394C>T ENST00000246785.3 + 3 736 c.478C>T c.(478-480)Cgc>Tgc p.R160C BCL2L12_ENST00000246784.3_Intron|BCL2L12_ENST00000441864.2_Missense_Mutation_p.R159C NM_001040668.1|NM_138639.1 NP_001035758.1|NP_619580.1 Q9HB09 B2L12_HUMAN BCL2-like 12 (proline rich) 160 apoptosis p.R160C(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) TCTGCCCATCCGCCCCTGCTA 0.567000 11 212 0 0 0.008291 0 0 SAMD12 401474 broad.mit.edu 37 8 119391896 119391896 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr8:119391896C>T ENST00000409003.4 - 4 494 c.366G>A c.(364-366)atG>atA p.M122I AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000314727.4_Missense_Mutation_p.M122I NM_001101676.1 NP_001095146.1 Q8N8I0 SAM12_HUMAN sterile alpha motif domain containing 12 122 SAM. p.M122I(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) GGGCAATCCCCATTCGCTCGA 0.468000 23 132 0 0 0.003330 0 0 HEY2 23493 broad.mit.edu 37 6 126080673 126080673 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:126080673G>A ENST00000368364.3 + 5 936 c.739G>A c.(739-741)Gcc>Acc p.A247T HEY2_ENST00000368365.1_Missense_Mutation_p.A201T NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 247 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding p.A247T(1) breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) GGGCAGCGTCGCCCCCTGCGT 0.662000 28 281 0 0 0.007291 0 0 SMAD4 4089 broad.mit.edu 37 18 48591919 48591919 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr18:48591919G>A ENST00000342988.3 + 9 1620 c.1082G>A c.(1081-1083)cGc>cAc p.R361H SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H NM_005359.5 NP_005350.1 Q13485 SMAD4_HUMAN SMAD family member 4 361 MH2. R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation). BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway activin responsive factor complex|centrosome|cytosol I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity p.0?(36)|p.R361H(12)|p.?(2) NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1) 454 all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336) Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155) GGAGGAGATCGCTTTTGTTTG 0.413000 4 68 0 0 0.000248 0 0 ABCC1 4363 broad.mit.edu 37 16 16215937 16215937 + Nonsense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:16215937C>T ENST00000399408.2 + 25 3701 c.3526C>T c.(3526-3528)Cga>Tga p.R1176* ABCC1_ENST00000349029.5_Nonsense_Mutation_p.R1051*|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.R1166*|ABCC1_ENST00000399410.3_Nonsense_Mutation_p.R1166*|ABCC1_ENST00000351154.5_Nonsense_Mutation_p.R1107*|ABCC1_ENST00000346370.5_Nonsense_Mutation_p.R1110* P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1166 ABC transmembrane type-1 2. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R1166*(1) breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CAGCGTCATTCGAGCCTTCGA 0.612000 4 81 0 0 0.000248 0 0 MED11 400569 broad.mit.edu 37 17 4636427 4636427 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:4636427C>T ENST00000293777.5 + 3 355 c.299C>T c.(298-300)gCc>gTc p.A100V MED11_ENST00000575284.1_3'UTR NM_001001683.2 NP_001001683.1 Q9P086 MED11_HUMAN mediator complex subunit 11 100 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex protein binding p.A100V(1) lung(2)|ovary(2) 4 GTGGACTATGCCCGCCTCAAG 0.577000 3 53 0 0 0.004672 0 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 4 23 0 0 0.000248 0 0 COL12A1 1303 broad.mit.edu 37 6 75801215 75801215 + Silent SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:75801215T>C ENST00000322507.8 - 61 8985 c.8676A>G c.(8674-8676)aaA>aaG p.K2892K COL12A1_ENST00000483888.2_Silent_p.K2888K|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000416123.2_Silent_p.K2816K|COL12A1_ENST00000345356.6_Silent_p.K1728K NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2892 Triple-helical region (COL2) with 1 imperfection. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength p.K2892K(1) breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CCCTATCACCTTTTTCTCCTT 0.284000 3 88 0 0 0.000248 0 0 LPA 4018 broad.mit.edu 37 6 160978538 160978538 + Missense_Mutation SNP T T G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:160978538T>G ENST00000447678.1 - 30 4817 c.4697A>C c.(4696-4698)gAt>gCt p.D1566A LPA_ENST00000316300.5_Missense_Mutation_p.D1566A NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 4074 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.D1566A(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) CACACACGGATCGGTTGTGTA 0.498000 3 134 0 0 0.000248 0 0 CPS1 1373 broad.mit.edu 37 2 211444463 211444463 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:211444463C>T ENST00000233072.5 + 5 693 c.497C>T c.(496-498)aCa>aTa p.T166I CPS1_ENST00000430249.2_Missense_Mutation_p.T172I NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 166 Anthranilate phosphoribosyltransferase homolog. 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.T172I(1)|p.T166I(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) GGAGTGGACACAAGAATGCTG 0.358000 7 105 0 0 0.004482 0 0 FAT4 79633 broad.mit.edu 37 4 126389827 126389827 + Silent SNP C C T rs144476127 byFrequency TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr4:126389827C>T ENST00000394329.3 + 11 12073 c.12060C>T c.(12058-12060)ggC>ggT p.G4020G FAT4_ENST00000335110.5_Silent_p.G2283G NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4020 Laminin G-like 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G4020G(2)|p.G3985G(2) NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 ACCAGACAGGCGACCGGGCTG 0.398000 11 69 0 0 0.001368 0 0 PLXNA4 91584 broad.mit.edu 37 7 131866933 131866933 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:131866933C>T ENST00000359827.3 - 17 4137 c.3175G>A c.(3175-3177)Gcc>Acc p.A1059T PLXNA4_ENST00000321063.4_Missense_Mutation_p.A1059T Q9HCM2 PLXA4_HUMAN plexin A4 1059 IPT/TIG 3. integral to membrane|intracellular|plasma membrane p.A1059T(4) NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CCCCATACGGCGATGGGTGTG 0.507000 13 63 0 0 0.001855 0 0 PAPPA2 60676 broad.mit.edu 37 1 176758977 176758977 + Missense_Mutation SNP G G T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:176758977G>T ENST00000367662.3 + 18 5912 c.4748G>T c.(4747-4749)gGa>gTa p.G1583V NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1583 Sushi 3. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.G1583V(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 CTGGAAGGTGGAATCTGGGAG 0.463000 18 27 6.94344e-10 9.25792e-10 0.006122 1 0 TTN 7273 broad.mit.edu 37 2 179650412 179650412 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:179650412G>A ENST00000589042.1 - 15 2652 c.2428C>T c.(2428-2430)Cgc>Tgc p.R810C TTN_ENST00000591111.1_Missense_Mutation_p.R810C|TTN_ENST00000360870.5_Missense_Mutation_p.R810C|TTN_ENST00000460472.2_Missense_Mutation_p.R764C|TTN_ENST00000359218.5_Missense_Mutation_p.R764C|TTN_ENST00000342175.6_Missense_Mutation_p.R764C|TTN_ENST00000342992.6_Missense_Mutation_p.R810C NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 810 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R764C(3)|p.R810C(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) CTAGCTGTGCGGGGGCGTTTA 0.388000 7 153 0 0 0.001984 0 0 CCDC93 54520 broad.mit.edu 37 2 118703137 118703137 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:118703137G>A ENST00000376300.2 - 17 1455 c.1318C>T c.(1318-1320)Cct>Tct p.P440S CCDC93_ENST00000319432.5_Missense_Mutation_p.P439S NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 440 p.P440S(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 AAGGTACCAGGCGGCTCTCCA 0.512000 5 99 0 0 0.001984 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 5 237 0 0 0.001168 0 0 OR4Q3 441669 broad.mit.edu 37 14 20215725 20215725 + Missense_Mutation SNP G G T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr14:20215725G>T ENST00000331723.1 + 1 139 c.139G>T c.(139-141)Gta>Tta p.V47L NM_172194.1 NP_751944.1 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, member 3 47 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V47L(1) NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTTGATAGTGGTAACAGTGCA 0.418000 24 501 6.32553e-13 8.5201e-13 0.004656 1 0 PLA2G2D 26279 broad.mit.edu 37 1 20442055 20442055 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:20442055G>A ENST00000375105.3 - 3 295 c.237C>T c.(235-237)tgC>tgT p.C79C NM_012400.2 NP_036532.1 Q9UNK4 PA2GD_HUMAN phospholipase A2, group IID 79 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity p.C79C(1) endometrium(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) TGTAGATGCTGCACCCCTGGG 0.582000 Multiple Myeloma(11;0.12) 9 116 0 0 0.000978 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 4 144 0 0 0.001168 0 0 CLCA2 9635 broad.mit.edu 37 1 86909605 86909605 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:86909605G>A ENST00000370565.4 + 10 1786 c.1624G>A c.(1624-1626)Gat>Aat p.D542N NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 542 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity p.D542N(1) NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) TATATTATTTGATCCTGATGG 0.398000 7 118 0 0 0.001984 0 0 CARD11 84433 broad.mit.edu 37 7 2985559 2985559 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr7:2985559C>T ENST00000396946.4 - 4 655 c.252G>A c.(250-252)ggG>ggA p.G84G AC004906.3_ENST00000423194.1_RNA NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 84 CARD. 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.G77G(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) AGCCCCTTTGCCCCTTGGTAT 0.493000 Mis DLBCL 5 334 0 0 0.000602 0 0 RP1 6101 broad.mit.edu 37 8 55534023 55534023 + Missense_Mutation SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr8:55534023C>T ENST00000220676.1 + 2 645 c.497C>T c.(496-498)aCg>aTg p.T166M NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 166 Doublecortin 2. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.T166M(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GACCCGAAGACGAGGCGTGCG 0.642000 15 96 0 0 0.004007 0 0 PYROXD1 79912 broad.mit.edu 37 12 21621467 21621467 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr12:21621467C>G ENST00000538582.1 + 12 1822 c.1069C>G c.(1069-1071)Cag>Gag p.Q357E PYROXD1_ENST00000240651.9_Missense_Mutation_p.Q428E Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase domain 1 428 oxidoreductase activity p.Q428E(1) endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1) 18 ATACAATGCACAGGGCTTAGG 0.363000 9 59 0 0 0.008291 0 0 ENG 2022 broad.mit.edu 37 9 130581017 130581017 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr9:130581017G>A ENST00000344849.3 - 11 1686 c.1406C>T c.(1405-1407)cCg>cTg p.P469L ENG_ENST00000480266.1_5'UTR|ENG_ENST00000373203.4_Missense_Mutation_p.P469L|RP11-228B15.4_ENST00000439298.1_RNA|RP11-228B15.4_ENST00000425991.1_RNA P17813 EGLN_HUMAN endoglin 469 Ser/Thr-rich. artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding p.P469L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 CTGCTGCCCCGGCTCGATGGT 0.612000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 6 124 0 0 0.001984 0 0 TFCP2 7024 broad.mit.edu 37 12 51497949 51497949 + Missense_Mutation SNP G G C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr12:51497949G>C ENST00000307660.4 - 8 1522 c.802C>G c.(802-804)Cca>Gca p.P268A TFCP2_ENST00000548115.1_Missense_Mutation_p.P268A|TFCP2_ENST00000257915.5_Missense_Mutation_p.P319A|TFCP2_ENST00000549867.1_Intron NM_001173453.1 NP_001166924.1 Q12800 TFCP2_HUMAN transcription factor CP2 319 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity p.P319A(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1) 23 TCTGTGACTGGAGGGGGTGGC 0.408000 6 59 0 0 0.003080 0 0 LINC00264 645528 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 37 0 0 0.004672 0 0 ZNF525 170958 broad.mit.edu 37 19 53885195 53885195 + Missense_Mutation SNP A A C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:53885195A>C ENST00000467003.1 + 4 1456 c.1255A>C c.(1255-1257)Acc>Ccc p.T419P ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000474037.1_Missense_Mutation_p.T455P|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000355326.3_Missense_Mutation_p.T173P zinc finger protein 525 endometrium(3)|kidney(3)|lung(3) 9 GTTATCCCTTACCTGCCATTG 0.373000 4 34 0 0 0.000602 0 0 GRM6 2916 broad.mit.edu 37 5 178408745 178408745 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr5:178408745C>T ENST00000231188.5 - 10 2725 c.2547G>A c.(2545-2547)caG>caA p.Q849Q GRM6_ENST00000517717.1_Silent_p.Q849Q|RP11-281O15.4_ENST00000519491.1_RNA NM_000843.3 NP_000834.2 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 849 detection of visible light|visual perception integral to plasma membrane p.Q849Q(1) NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1) 55 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) TCTGCACATTCTGCTCTGGAT 0.607000 7 170 0 0 0.001984 0 0 PANX1 24145 broad.mit.edu 37 11 93911638 93911638 + Missense_Mutation SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr11:93911638T>C ENST00000227638.3 + 3 810 c.425T>C c.(424-426)aTc>aCc p.I142T PANX1_ENST00000436171.2_Missense_Mutation_p.I142T NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 142 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding p.I142T(1) endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TTGAAGTTTATCATGGAAGAA 0.502000 3 92 0 0 0.004672 0 0 SLC16A13 201232 broad.mit.edu 37 17 6941599 6941599 + Missense_Mutation SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr17:6941599T>C ENST00000308027.6 + 3 780 c.472T>C c.(472-474)Ttt>Ctt p.F158L NM_201566.2 NP_963860.1 Q7RTY0 MOT13_HUMAN solute carrier family 16, member 13 158 integral to membrane|plasma membrane symporter activity p.F158L(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 ATTTGCCCCCTTTTTCCAGTG 0.652000 3 74 0 0 0.004672 0 0 NRDE2 55051 broad.mit.edu 37 14 90764706 90764706 + Missense_Mutation SNP A A G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr14:90764706A>G ENST00000354366.3 - 8 1796 c.1564T>C c.(1564-1566)Ttt>Ctt p.F522L NRDE2_ENST00000357904.3_Missense_Mutation_p.F291L NM_017970.3 NP_060440.2 NRDE-2, necessary for RNA interference, domain containing p.F522L(1) CTGTCCCAAAAGGGTTCAAAG 0.547000 4 90 0 0 0.000602 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337402 13337402 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chrX:13337402C>G ENST00000380622.2 - 1 1116 c.652G>C c.(652-654)Gag>Cag p.E218Q GS1-600G8.3_ENST00000431486.1_RNA NM_001135995.1 NP_001129467.1 Q9H3M9 ATX3L_HUMAN ataxin 3-like 218 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity p.E218Q(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 GTTCCAGACTCATCACTTTCT 0.378000 12 592 0 0 0.000978 0 0 C22orf29 79680 broad.mit.edu 37 22 19839740 19839740 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr22:19839740G>A ENST00000405640.1 - 2 713 c.45C>T c.(43-45)atC>atT p.I15I C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Silent_p.I15I|GNB1L_ENST00000460402.1_Intron|GNB1L_ENST00000403325.1_Intron|C22orf29_ENST00000328554.4_Silent_p.I15I|GNB1L_ENST00000405009.1_Intron Q7L3V2 CV029_HUMAN chromosome 22 open reading frame 29 15 p.I15I(1) NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1) 7 Colorectal(54;0.0993) CGGCTGCCCAGATGGGAATGC 0.637000 27 75 0 0 0.006320 0 0 AKR1E2 83592 broad.mit.edu 37 10 4881968 4881968 + Silent SNP C C T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr10:4881968C>T ENST00000298375.7 + 6 701 c.630C>T c.(628-630)tgC>tgT p.C210C AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000532248.1_Intron NM_001040177.1 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 210 cytoplasm 1,5-anhydro-D-fructose reductase activity p.C210C(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 TCAGTTTTTGCCAATCCAGAG 0.433000 4 111 0 0 0.000602 0 0 PRDM9 56979 broad.mit.edu 37 5 23522507 23522507 + Silent SNP T T C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr5:23522507T>C ENST00000296682.3 + 7 785 c.603T>C c.(601-603)gaT>gaC p.D201D NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 201 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding p.D201D(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 AGGATGATGATTACCTCTGTA 0.443000 HNSCC(3;0.000094) 15 237 0 0 0.004007 0 0 CD207 50489 broad.mit.edu 37 2 71060878 71060878 + Missense_Mutation SNP G G T TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr2:71060878G>T ENST00000410009.3 - 3 509 c.464C>A c.(463-465)cCa>cAa p.P155Q NM_015717.3 NP_056532.3 Q9UJ71 CLC4K_HUMAN CD207 molecule, langerin 155 defense response to virus endocytic vesicle|integral to membrane mannose binding p.P155Q(1) endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1) 20 TTTTAACTCTGGGATTTGGGC 0.438000 7 90 0.000157383 0.000201695 0.003080 1 0 ZSCAN29 146050 broad.mit.edu 37 15 43658995 43658995 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr15:43658995G>A ENST00000396976.2 - 3 669 c.535C>T c.(535-537)Cct>Tct p.P179S ZSCAN29_ENST00000396972.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.P178S|ZSCAN29_ENST00000568898.1_Intron NM_152455.3 NP_689668.3 Q8IWY8 ZSC29_HUMAN zinc finger and SCAN domain containing 29 179 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P179S(1) cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2) 24 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) CCGGATTTAGGAAATGGCAAT 0.458000 17 58 0 0 0.004990 0 0 SLC24A1 9187 broad.mit.edu 37 15 65917985 65917985 + Missense_Mutation SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr15:65917985G>A ENST00000261892.6 + 2 1854 c.1567G>A c.(1567-1569)Gtg>Atg p.V523M SLC24A1_ENST00000546330.1_Missense_Mutation_p.V523M|SLC24A1_ENST00000537259.1_Missense_Mutation_p.V523M|SLC24A1_ENST00000399033.4_Missense_Mutation_p.V523M|SLC24A1_ENST00000339868.6_Missense_Mutation_p.V523M|SLC24A1_ENST00000544319.2_Missense_Mutation_p.V523M NM_001254740.1|NM_004727.2 NP_001241669.1|NP_004718.1 O60721 NCKX1_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 523 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity p.V523M(1) breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 CCACAGCAACGTGGGCATTGG 0.547000 5 163 0 0 0.000602 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135239586 135239586 + Silent SNP G G A TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr6:135239586G>A ENST00000265605.2 - 7 1499 c.1431C>T c.(1429-1431)ttC>ttT p.F477F ALDH8A1_ENST00000367847.2_Silent_p.F427F|ALDH8A1_ENST00000367845.2_Silent_p.F423F NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 477 retinal metabolic process cytoplasm retinal dehydrogenase activity p.F477F(1) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TGATCTCAGTGAAGAAGTCGT 0.502000 4 51 0 0 0.000248 0 0 CRNN 49860 broad.mit.edu 37 1 152382681 152382682 + Frame_Shift_Del DEL TC TC - TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr1:152382681_152382682delTC ENST00000271835.3 - 3 938_939 c.876_877delGA c.(874-879)ggcafs p.GT292fs RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 292 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TGGGTGTGTGTCCCTGCCTGTA 0.609 33 488 --- --- --- --- LINC00969 440993 broad.mit.edu 37 3 195400918 195400919 + RNA INS - - T rs55992531 by1000genomes TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr3:195400918_195400919insT ENST00000445430.1 + 0 1454 AGTCttttttctttttttttga 0.525 4 7 --- --- --- --- LONP1 9361 broad.mit.edu 37 19 5699070 5699071 + Frame_Shift_Ins INS - - C rs147331639 byFrequency TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr19:5699070_5699071insC ENST00000360614.3 - 10 1809_1810 c.1652_1653insG c.(1651-1653)gatfs p.D551fs LONP1_ENST00000590729.1_Frame_Shift_Ins_p.D421fs|LONP1_ENST00000593119.1_Frame_Shift_Ins_p.D487fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.D437fs|LONP1_ENST00000540670.2_Frame_Shift_Ins_p.D355fs NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 551 cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CGTCAGTCATGCCCCCGACGCT 0.644 8 47 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11085863 11085864 + RNA INS - - C TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 Untested Somatic Phase_I WXS none Illumina GAIIx 940455cf-aa91-432a-bc39-9dfba206e32b 75ddc632-0535-4209-b189-302eedf4741c g.chr21:11085863_11085864insC ENST00000470054.1 - 0 324 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) catcaccaccaccaccatcacc 0.579 2 4 --- --- --- ---