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 KRTAP4-11 653240 broad.mit.edu 37 17 39274416 39274416 + Missense_Mutation SNP C C T rs408579 by1000genomes TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:39274416C>T ENST00000391413.2 - 1 190 c.152G>A c.(151-153)aGg>aAg p.R51K NM_033059.3 NP_149048.2 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 51 27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. Missing (in allele KAP4.14). keratin filament p.R51K(1) endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1) 33 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) GCACTGGGGCCTGCAGCAGCT 0.672000 5 108 0 0 0.000157383 0 0 C19orf57 79173 broad.mit.edu 37 19 14006305 14006305 + Missense_Mutation SNP T T G TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:14006305T>G ENST00000454313.1 - 3 144 c.86A>C c.(85-87)tAt>tCt p.Y29S C19orf57_ENST00000591586.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000586783.1_Missense_Mutation_p.Y29S|C19orf57_ENST00000346736.2_Missense_Mutation_p.Y29S Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 29 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGGGTCCCCATAGAAGTCTCC 0.547000 8 232 0 0 0.000442599 0 0 FOXR2 139628 broad.mit.edu 37 X 55651014 55651014 + Silent SNP T T G TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:55651014T>G ENST00000339140.3 + 1 1182 c.870T>G c.(868-870)gcT>gcG p.A290A NM_198451.3 NP_940853.1 Q6PJQ5 FOXR2_HUMAN forkhead box R2 290 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 TAGCCTTTGCTCAAAGGGAGA 0.493000 17 15 0 0 0.000566183 0 0 ADORA1 134 broad.mit.edu 37 1 203134669 203134669 + Missense_Mutation SNP C C T rs148415221 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:203134669C>T ENST00000367236.4 + 3 1543 c.622C>T c.(622-624)Cgc>Tgc p.R208C ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Missense_Mutation_p.R208C|ADORA1_ENST00000309502.3_Missense_Mutation_p.R208C NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor 208 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane p.R208C(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CTACCTAATCCGCAAGCAGCT 0.552000 5 77 0 0 0.00116845 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128685 45128685 + RNA SNP T T C rs145089594 by1000genomes TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:45128685T>C ENST00000575173.1 - 0 418 TTCCAGGATATGGCTATACTG 0.303000 5 121 0 0 0.000602214 0 0 AXDND1 126859 broad.mit.edu 37 1 179437608 179437608 + Missense_Mutation SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:179437608G>A ENST00000367618.3 + 17 2216 c.1829G>A c.(1828-1830)aGt>aAt p.S610N AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_3'UTR NM_144696.4 NP_653297.3 Q5T1B0 AXDN1_HUMAN axonemal dynein light chain domain containing 1 610 NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 59 AGTTTGATTAGTTCTCTTGAC 0.294000 4 50 0 0 0.000602214 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936083 178936083 + Missense_Mutation SNP A A C TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:178936083A>C ENST00000263967.3 + 10 1782 c.1625A>C c.(1624-1626)gAa>gCa p.E542A NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 542 PI3K helical. E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542V(8)|p.E542A(4)|p.E542G(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCTCTCTCTGAAATCACTGAG 0.333000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 5 56 0 0 0.00116845 0 0 PIK3CA 5290 broad.mit.edu 37 3 178921552 178921552 + Missense_Mutation SNP A A T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:178921552A>T ENST00000263967.3 + 5 1191 c.1034A>T c.(1033-1035)aAt>aTt p.N345I NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 345 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.N345I(4)|p.N345S(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ACCTACGTGAATGTAAATATT 0.303000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 4 105 0 0 0.00024832 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803543 142803543 + RNA SNP C C T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:142803543C>T ENST00000423385.1 - 0 1422 TGTTGGAATTCCTGATGAATC 0.269000 5 136 0 0 0.000602214 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255043 155255043 + RNA SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:155255043G>A ENST00000285718.7 + 0 1348 WASH6P_ENST00000461007.1_RNA ATCCTAGGGGGCTCCATGACA 0.642000 4 24 0 0 0.00024832 0 0 CYB5R4 51167 broad.mit.edu 37 6 84644322 84644322 + Missense_Mutation SNP T T C TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:84644322T>C ENST00000369681.4 + 11 963 c.823T>C c.(823-825)Tac>Cac p.Y275H CYB5R4_ENST00000479164.1_3'UTR NM_016230.3 NP_057314.2 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 275 FAD-binding FR-type. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) AGGTTTGTACTACAGAAAGTG 0.358000 15 20 0 0 0.000308642 0 0 RPL11 6135 broad.mit.edu 37 1 24019135 24019135 + Missense_Mutation SNP C C T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:24019135C>T ENST00000374550.3 + 2 88 c.43C>T c.(43-45)Ctt>Ttt p.L15F RPL11_ENST00000482370.1_3'UTR NM_000975.3|NM_001199802.1 NP_000966.2|NP_001186731.1 P62913 RL11_HUMAN ribosomal protein L11 15 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) CATGCGGGAACTTCGCATCCG 0.547000 8 145 0 0 0.000274275 0 0 CACNA1E 777 broad.mit.edu 37 1 181708361 181708361 + Missense_Mutation SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:181708361G>A ENST00000526775.1 + 24 3799 c.3634G>A c.(3634-3636)Gtt>Att p.V1212I CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1182I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1231I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1212I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1163I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V838I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1231I NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1231 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 TGTGGTGGTCGTTGGCGCATT 0.502000 52 144 0 0 0.000781405 0 0 MTTP 4547 broad.mit.edu 37 4 100503185 100503185 + Missense_Mutation SNP A A G TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr4:100503185A>G ENST00000457717.1 + 3 441 c.185A>G c.(184-186)aAc>aGc p.N62S MTTP_ENST00000511045.1_Missense_Mutation_p.N89S|MTTP_ENST00000422897.2_Missense_Mutation_p.N62S|MTTP_ENST00000265517.5_Missense_Mutation_p.N62S NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 62 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) ATTTCCTCCAACGTGGATGTG 0.463000 32 103 0 0 0.00283554 0 0 HMBS 3145 broad.mit.edu 37 11 118959361 118959361 + Missense_Mutation SNP C C T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:118959361C>T ENST00000537841.1 + 3 344 c.53C>T c.(52-54)aCg>aTg p.T18M HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000392841.1_Missense_Mutation_p.T18M|HMBS_ENST00000278715.3_Missense_Mutation_p.T35M|HMBS_ENST00000543090.1_Missense_Mutation_p.T17M|HMBS_ENST00000442944.2_Missense_Mutation_p.T18M|HMBS_ENST00000542729.1_Missense_Mutation_p.T18M|HMBS_ENST00000544387.1_Missense_Mutation_p.T35M P08397 HEM3_HUMAN hydroxymethylbilane synthase 35 M -> I (in AIP). peptidyl-pyrromethane cofactor linkage cytosol hydroxymethylbilane synthase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.72e-05) CGCATACAGACGGACAGTGTG 0.522000 13 98 0 0 0.000958276 0 0 HTR5A 3361 broad.mit.edu 37 7 154875945 154875945 + Silent SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:154875945G>A ENST00000287907.2 + 2 1398 c.822G>A c.(820-822)acG>acA p.T274T HTR5A_ENST00000486819.1_3'UTR NM_024012.3 NP_076917.1 P47898 5HT5A_HUMAN 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled 274 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) AAGGGGACACGTGGCGGGAGC 0.607000 13 39 0 0 0.00185496 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 4 119 0 0 0.00024832 0 0 CCNL2 81669 broad.mit.edu 37 1 1325908 1325908 + Missense_Mutation SNP C C G TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:1325908C>G ENST00000400809.3 - 7 800 c.795G>C c.(793-795)ttG>ttC p.L265F CCNL2_ENST00000505849.1_5'UTR|CCNL2_ENST00000408952.5_Missense_Mutation_p.L43F NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 265 Cyclin-like 2. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) TTGCTCCAAACAAAAGAAACC 0.408000 23 78 0 0 0.00229938 0 0 BTLA 151888 broad.mit.edu 37 3 112198518 112198518 + Missense_Mutation SNP A A G TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:112198518A>G ENST00000334529.5 - 2 389 c.187T>C c.(187-189)Tgt>Cgt p.C63R BTLA_ENST00000383680.4_Missense_Mutation_p.C63R NM_181780.3 NP_861445.3 Q7Z6A9 BTLA_HUMAN B and T lymphocyte associated 63 Ig-like V-type. T cell costimulation receptor activity breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1) 11 Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361) CTGTTAGCACAGTATTTCACA 0.398000 46 75 0 0 0.000781405 0 0 TTLL8 164714 broad.mit.edu 37 22 50480096 50480096 + Missense_Mutation SNP C C T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr22:50480096C>T ENST00000266182.6 - 7 783 c.784G>A c.(784-786)Gag>Aag p.E262K TTLL8_ENST00000440475.1_Missense_Mutation_p.E262K tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) CACTCGGCCTCAGTGAGGTCC 0.607000 5 27 0 0 0.000602214 0 0 PALM2-AKAP2 0 broad.mit.edu 37 9 112899835 112899835 + Missense_Mutation SNP G G A rs147886830 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:112899835G>A ENST00000374530.3 + 8 2191 c.2011G>A c.(2011-2013)Gcc>Acc p.A671T AKAP2_ENST00000434623.2_Missense_Mutation_p.A529T|AKAP2_ENST00000374525.1_Missense_Mutation_p.A529T|AKAP2_ENST00000259318.7_Missense_Mutation_p.A440T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.A671T|AKAP2_ENST00000510514.5_Missense_Mutation_p.A671T|AKAP2_ENST00000555236.1_Missense_Mutation_p.A671T NM_007203.4|NM_147150.2 NP_009134.1|NP_671492.1 Q9Y2D5 AKAP2_HUMAN 440 enzyme binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 44 ATTTACGAGCGCCCGGGCTGT 0.537000 33 88 0 0 0.00283554 0 0 COL1A2 1278 broad.mit.edu 37 7 94037158 94037158 + Splice_Site SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:94037158G>A ENST00000297268.6 + 13 1065 c.e13-1 NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TCTCCATGTAGGGTGAACCTG 0.323000 HNSCC(75;0.22) 5 27 0 0 0.00116845 0 0 SHANK1 50944 broad.mit.edu 37 19 51217187 51217187 + Silent SNP C C T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:51217187C>T ENST00000293441.1 - 5 678 c.660G>A c.(658-660)gcG>gcA p.A220A SHANK1_ENST00000391814.1_Silent_p.A220A|SHANK1_ENST00000359082.3_Silent_p.A220A NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 220 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CGGTCTGGGCCGCCAGTGTCA 0.617000 9 30 0 0 0.000673444 0 0 OR2A12 346525 broad.mit.edu 37 7 143793017 143793017 + Missense_Mutation SNP C C T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:143793017C>T ENST00000408949.2 + 1 877 c.817C>T c.(817-819)Ctt>Ttt p.L273F NM_001004135.1 NP_001004135.1 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, member 12 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2) 25 Melanoma(164;0.0783) GAGGAAGATCCTTTCCCTGTT 0.522000 80 216 0 0 0.000781405 0 0 MAS1L 116511 broad.mit.edu 37 6 29454710 29454710 + Missense_Mutation SNP T T C TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:29454710T>C ENST00000377127.3 - 1 1028 c.970A>G c.(970-972)Agg>Ggg p.R324G NM_052967.1 NP_443199.1 P35410 MAS1L_HUMAN MAS1 oncogene-like 324 cytoplasm|integral to membrane|nucleus|plasma membrane G-protein coupled receptor activity p.R324G(1) NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2) 28 TCCTTCAGCCTTTTCTTTCTG 0.463000 3 172 0 0 6.4e-05 0 0 LINC00969 0 broad.mit.edu 37 3 195385023 195385023 + RNA SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr3:195385023C>A ENST00000445430.1 + 0 76 TTGGCGCTGGCGCTGGCCAAG 0.771000 3 4 6.4e-05 0.00091264 6.4e-05 1 0 MACF1 23499 broad.mit.edu 37 1 39747939 39747939 + Silent SNP C C T rs143261539 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:39747939C>T ENST00000564288.1 + 7 1365 c.588C>T c.(586-588)ctC>ctT p.L196L MACF1_ENST00000545844.1_Silent_p.L201L|MACF1_ENST00000372915.3_Silent_p.L201L|MACF1_ENST00000536367.1_Silent_p.L164L|MACF1_ENST00000539005.1_Silent_p.L201L|MACF1_ENST00000317713.7_Silent_p.L201L|MACF1_ENST00000567887.1_Silent_p.L233L|MACF1_ENST00000361689.2_Silent_p.L201L Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 201 Actin-binding.|CH 2. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGAAACTACTCCTGTGGACCC 0.438000 7 92 0 0 0.000157383 0 0 CEP170B 283638 broad.mit.edu 37 14 105354172 105354172 + Missense_Mutation SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr14:105354172G>A ENST00000453495.1 + 12 3827 c.3599G>A c.(3598-3600)aGt>aAt p.S1200N CEP170B_ENST00000556508.1_Missense_Mutation_p.S1129N|CEP170B_ENST00000418279.1_Missense_Mutation_p.S1129N|CEP170B_ENST00000414716.3_Missense_Mutation_p.S1199N centrosomal protein 170B TCTGGCCGCAGTGTGGAGTTG 0.692000 8 4 0 0 0.000978159 0 0 IFT172 26160 broad.mit.edu 37 2 27682634 27682634 + Missense_Mutation SNP C C T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr2:27682634C>T ENST00000260570.3 - 24 2687 c.2584G>A c.(2584-2586)Gac>Aac p.D862N NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 862 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) ACCAGGTGGTCCCCCCATGCC 0.527000 18 195 0 0 0.00074312 0 0 DLL3 10683 broad.mit.edu 37 19 39995921 39995921 + Missense_Mutation SNP G G A rs141671275 byFrequency TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:39995921G>A ENST00000205143.4 + 6 930 c.923G>A c.(922-924)cGg>cAg p.R308Q DLL3_ENST00000356433.5_Missense_Mutation_p.R308Q NM_016941.3 NP_058637.1 Q9NYJ7 DLL3_HUMAN delta-like 3 (Drosophila) 308 EGF-like 2. Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TACGGGCTGCGGTGTGAGGTG 0.592000 28 86 0 0 0.00127121 0 0 SLC3A2 6520 broad.mit.edu 37 11 62649502 62649502 + Missense_Mutation SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr11:62649502G>A ENST00000377892.1 + 6 1182 c.958G>A c.(958-960)Gat>Aat p.D320N SLC3A2_ENST00000377890.2_Missense_Mutation_p.D289N|SLC3A2_ENST00000377891.2_Missense_Mutation_p.D290N|SLC3A2_ENST00000377889.2_Missense_Mutation_p.D227N|SLC3A2_ENST00000535296.1_Missense_Mutation_p.D258N|SLC3A2_ENST00000338663.7_Missense_Mutation_p.D188N|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000536981.1_5'UTR P08195 4F2_HUMAN solute carrier family 3 (amino acid transporter heavy chain), member 2 289 S -> F (in Ref. 5; AAA35489). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 CTCCAAGGAAGATTTTGACAG 0.488000 19 65 0 0 0.000958276 0 0 NLRP4 147945 broad.mit.edu 37 19 56363700 56363700 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:56363700G>T ENST00000301295.6 + 2 676 c.254G>T c.(253-255)tGc>tTc p.C85F NLRP4_ENST00000346986.5_Missense_Mutation_p.C85F NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 85 DAPIN. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AAGGATCTCTGCATGAAGGTC 0.443000 27 60 1.2476e-16 1.89263e-15 0.00106085 1 0 HDAC9 9734 broad.mit.edu 37 7 18975506 18975506 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:18975506G>T ENST00000406451.3 + 23 3019 c.2869G>T c.(2869-2871)Gat>Tat p.D957Y HDAC9_ENST00000441542.2_Missense_Mutation_p.D960Y|HDAC9_ENST00000432645.2_Missense_Mutation_p.D957Y|HDAC9_ENST00000401921.1_Missense_Mutation_p.D916Y NM_178423.1|NM_178425.2 NP_848510.1|NP_848512.1 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 957 Histone deacetylase. B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AGGAGGACATGATCTCACAGC 0.423000 18 220 8.00594e-06 0.000116495 0.000958276 1 0 MAMDC2 256691 broad.mit.edu 37 9 72755164 72755164 + Missense_Mutation SNP A A T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr9:72755164A>T ENST00000377182.4 + 8 1715 c.1098A>T c.(1096-1098)aaA>aaT p.K366N MAMDC2-AS1_ENST00000591368.1_RNA NM_153267.4 NP_694999.3 Q7Z304 MAMC2_HUMAN MAM domain containing 2 366 MAM 3. endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 TGAAAGTAAAACCAAACATGT 0.463000 7 127 0 0 0.000442599 0 0 TNRC6A 27327 broad.mit.edu 37 16 24801364 24801364 + Silent SNP C C T rs145186487 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr16:24801364C>T ENST00000395799.3 + 6 1530 c.1401C>T c.(1399-1401)tcC>tcT p.S467S TNRC6A_ENST00000315183.7_Silent_p.S467S NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 467 Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TACCAAACTCCGGTTCAGTGC 0.438000 7 65 0 0 0.00198382 0 0 KRIT1 889 broad.mit.edu 37 7 91864869 91864869 + Missense_Mutation SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:91864869G>A ENST00000394507.1 - 9 1360 c.577C>T c.(577-579)Cct>Tct p.P193S KRIT1_ENST00000394505.2_Missense_Mutation_p.P193S|KRIT1_ENST00000412043.2_Missense_Mutation_p.P193S|KRIT1_ENST00000340022.2_Missense_Mutation_p.P193S|KRIT1_ENST00000394503.2_Missense_Mutation_p.P193S NM_194456.1 NP_919438.1 O00522 KRIT1_HUMAN KRIT1, ankyrin repeat containing 193 angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction cell-cell junction|cytoskeleton protein binding|small GTPase regulator activity autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1) 22 all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GCATATGCAGGATTTATGACA 0.393000 7 103 0 0 0.000274275 0 0 PIK3R2 5296 broad.mit.edu 37 19 18278049 18278049 + Missense_Mutation SNP G G T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:18278049G>T ENST00000593731.1 + 13 2229 c.1669G>T c.(1669-1671)Gac>Tac p.D557Y PIK3R2_ENST00000222254.7_Missense_Mutation_p.D557Y O00459 P85B_HUMAN phosphoinositide-3-kinase, regulatory subunit 2 (beta) 557 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway phosphatidylinositol 3-kinase complex GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1) 24 CAGAGAGATCGACAAGCGCAT 0.622000 12 88 1.08611e-07 1.61332e-06 0.000978159 1 0 TNFRSF21 27242 broad.mit.edu 37 6 47200572 47200572 + Nonsense_Mutation SNP C C A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr6:47200572C>A ENST00000296861.2 - 6 2290 c.1897G>T c.(1897-1899)Gga>Tga p.G633* NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 633 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) CTCTTGACTCCAATAATTTCG 0.478000 45 120 1.41504e-22 2.1933e-21 0.00285205 1 0 NBPF15 284565 broad.mit.edu 37 1 148594439 148594439 + Silent SNP A A G rs146739148 byFrequency TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:148594439A>G ENST00000442702.2 + 21 2879 c.1812A>G c.(1810-1812)ttA>ttG p.L604L NBPF15_ENST00000369187.3_Silent_p.L604L NM_001170755.1 NP_001164226.1 Q8N660 NBPFF_HUMAN neuroblastoma breakpoint family, member 15 604 NBPF 6. cytoplasm NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_hematologic(923;0.032) CTGAAGTCTTACAGGACTCAC 0.463000 4 369 0 0 0.00116845 0 0 AJ271736.10 0 broad.mit.edu 37 X 155255062 155255062 + RNA SNP C C G TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chrX:155255062C>G ENST00000285718.7 + 0 1367 WASH6P_ENST00000461007.1_RNA CACCTTCCCCCCCAGACCCAG 0.627000 4 28 0 0 0.00116845 0 0 PIK3R6 146850 broad.mit.edu 37 17 8731970 8731970 + Silent SNP G G A TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr17:8731970G>A ENST00000311434.9 - 11 1466 c.1227C>T c.(1225-1227)ggC>ggT p.G409G PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 409 platelet activation cytosol GCCGGGACACGCCGGGCAGCA 0.701000 5 29 0 0 0.00116845 0 0 NCF2 4688 broad.mit.edu 37 1 183534901 183534901 + Missense_Mutation SNP G G A rs137937390 byFrequency TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:183534901G>A ENST00000413720.1 - 9 1077 c.803C>T c.(802-804)cCg>cTg p.P268L NCF2_ENST00000418089.1_Missense_Mutation_p.P232L|NCF2_ENST00000367536.1_Missense_Mutation_p.P313L|NCF2_ENST00000367535.3_Missense_Mutation_p.P313L NM_001190794.1 NP_001177723.1 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 313 SH3 1. cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 GTCGGACTGCGGAGAGCTTTC 0.597000 16 69 0 0 0.000308642 0 0 NBPF1 55672 broad.mit.edu 37 1 16893822 16893822 + Frame_Shift_Del DEL C C - TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr1:16893822delC ENST00000430580.2 - 25 3578 c.2691delG c.(2689-2691)gafs p.E897fs NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 897 NBPF 5. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) CAGGCCCTTTCTCATCCAGCA 0.493 9 1785 --- --- --- --- CTC-338M12.9 0 broad.mit.edu 37 5 180708776 180708777 + RNA INS - - G rs140221514 TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr5:180708776_180708777insG ENST00000412295.2 + 0 238 gggcggtaggagggggctggag 0.728 2 4 --- --- --- --- CCT6P1 0 broad.mit.edu 37 7 65222951 65222951 + RNA DEL T T - TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr7:65222951delT ENST00000442266.1 + 0 561 TTTCTGTAACTTTTTTTTTTT 0.323 2 4 --- --- --- --- NT5DC3 51559 broad.mit.edu 37 12 104192373 104192374 + Frame_Shift_Del DEL AA AA - TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr12:104192373_104192374delAA ENST00000392876.3 - 5 646_647 c.606_607delTT c.(604-609)ttacfs p.FY202fs NT5DC3_ENST00000465502.1_5'UTR NM_001031701.2 NP_001026871.1 Q86UY8 NT5D3_HUMAN 5'-nucleotidase domain containing 3 202 hydrolase activity|metal ion binding NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2) 30 ACCTTTCCGTAAAAGTCACTCA 0.441 8 89 --- --- --- --- RP11-799B12.4 0 broad.mit.edu 37 18 21741578 21741579 + RNA INS - - T TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr18:21741578_21741579insT ENST00000583267.1 - 0 315 TTTTGTATTGCTTTTTTTTGTA 0.371 7 17 --- --- --- --- ZNF568 374900 broad.mit.edu 37 19 37440624 37440627 + Frame_Shift_Del DEL ACTT ACTT - TCGA-HC-7081-01A-11D-1961-08 TCGA-HC-7081-10A-01D-1962-08 Untested Somatic Phase_I WXS none Illumina GAIIx 76733f2c-8d48-477e-87df-d407287e2cbe 0bc728e9-ef17-4595-b98a-4d83e59dfca9 g.chr19:37440624_37440627delACTT ENST00000415168.1 + 5 753_756 c.377_380delACTT c.(376-381)gafs p.DL126fs ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000333987.7_Frame_Shift_Del_p.DL190fs|ZNF568_ENST00000427117.1_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 190 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CATAATTTAGACTTACTTAGATAT 0.363 34 93 --- --- --- ---